Genetic Distance (cM) Physical Distance (bp) LOD score Human_symbol Ensemble ID Approved Name Genomic Coordinate Function Description Human Disease KO Mouse Phenotype Pathway Biological Process Cellular Component Molecular Function GeneCards UniprotKB HPO OMIM MGI PubMed 20_50.701_78.701 Chr20:25016495-51804476 1.1 AAR2 ENSG00000131043 AAR2 splicing factor homolog chr20:34824381-34858840 This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] GO:0000244;spliceosomal tri-snRNP complex assembly;IBA http://www.genecards.org/index.php?path=/Search/keyword/AAR2 https://www.uniprot.org/uniprot/Q9Y312 https://www.ncbi.nlm.nih.gov/omim/?term=617365 http://www.informatics.jax.org/searchtool/Search.do?query=AAR2&submit=Quick%0D%6482ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AAR2 11_21.322_43.322 Chr11:11392976-25199292 1.269 ABCC8 ENSG00000006071 ATP binding cassette subfamily C member 8 chr11:17414432-17498449 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; BMI- Edema rosiglitazone or pioglitazone; hyperglycemia insulin; diabetes, gestational; Albumins; beta-cell function body mass cholesterol, HDL diabetic complications stroke; Diabetes Mellitus; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Type 2 Diabetes| edema | rosiglitazone; Hypercholesterolemia|LDLC levels; Kidney Failure, Chronic; esophageal adenocarcinoma; glucose tolerance; Diabetes Mellitus, Type 1; sulfonylurea or insulin treatment; high insulin concentrations in non-diabetic Mexican Ameri; Diabetes Mellitus, Type 2|Hypoglycemia; Persistent Hyperinsulinemia Hypoglycemia of Infancy; Insulin Resistance; metabolic syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; diabetes, type 2 insulin; Alzheimer's disease ; insulin; diabetes, type 2; drug-related genes ; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; beta-cell function; Type 2 diabetes Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0001678;cellular glucose homeostasis;IEA|GO:0006810;transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007165;signal transduction;IEA|GO:0007565;female pregnancy;IEA|GO:0009268;response to pH;IEA|GO:0010043;response to zinc ion;IEA|GO:0010989;negative regulation of low-density lipoprotein particle clearance;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IEA|GO:0042493;response to drug;IBA|GO:0043268;positive regulation of potassium ion transport;IEA|GO:0046676;negative regulation of insulin secretion;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0055085;transmembrane transport;TAS|GO:0060253;negative regulation of glial cell proliferation;IEA|GO:0061855;negative regulation of neuroblast migration;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0098655;cation transmembrane transport;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1900721;positive regulation of uterine smooth muscle relaxation;IEA|GO:1903818;positive regulation of voltage-gated potassium channel activity;IEA|GO:1904469;positive regulation of tumor necrosis factor secretion;IEA|GO:1905605;positive regulation of maintenance of permeability of blood-brain barrier;IEA GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0042383;sarcolemma;IBA GO:0000166;nucleotide binding;IEA|GO:0005267;potassium channel activity;IMP|GO:0005524;ATP binding;IEA|GO:0008281;sulfonylurea receptor activity;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019905;syntaxin binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;IBA|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ABCC8 https://www.uniprot.org/uniprot/Q09428 https://hpo.jax.org/app/browse/search?q=ABCC8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600509 http://www.informatics.jax.org/searchtool/Search.do?query=ABCC8&submit=Quick%0D%388ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC8 20_50.701_78.701 Chr20:25016495-51804476 1.1 ABHD12 ENSG00000100997 abhydrolase domain containing 12 chr20:25275379-25371619 This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011] Alkaline Phosphatase Mice homozygous for a knock-out allele exhibit neurological symptoms of neurodegeneration, hearing loss, ataxia, microgliosis and reduced brain lysophosphatidylserine lipase activity. Arachidonate production from DAG GO:0006660;phosphatidylserine catabolic process;IEA|GO:0007628;adult walking behavior;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0046464;acylglycerol catabolic process;IDA|GO:0046475;glycerophospholipid catabolic process;IDA|GO:0052651;monoacylglycerol catabolic process;IDA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032281;AMPA glutamate receptor complex;IEA GO:0004622;lysophospholipase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0047372;acylglycerol lipase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ABHD12 https://www.uniprot.org/uniprot/Q8N2K0 https://hpo.jax.org/app/browse/search?q=ABHD12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613599 http://www.informatics.jax.org/searchtool/Search.do?query=ABHD12&submit=Quick%0D%2635ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABHD12 4_17.387_23.387 Chr4:7152608-8704080 0.68 ABLIM2 ENSG00000163995 actin binding LIM protein family member 2 chr4:7967039-8160559 Prostatic Neoplasms; Tobacco Use Disorder; Coronary Artery Disease; Basophils DCC mediated attractive signaling GO:0006351;transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0030036;actin cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ABLIM2 https://www.ncbi.nlm.nih.gov/omim/?term=612544 http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM2&submit=Quick%0D%11154ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM2 19_20.212_38.212 Chr19:6565245-15124834 0.429 AC010323.1 ENSG00000167774 chr19:8410894-8410980 http://www.genecards.org/index.php?path=/Search/keyword/AC010323.1 http://www.informatics.jax.org/searchtool/Search.do?query=AC010323.1&submit=Quick%0D%12113ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AC010323.1 16_129.974_134.474 Chr16:87933002-90108832 0.174 AC092143.1 ENSG00000198211 chr16:89985273-89987375 GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AC092143.1 http://www.informatics.jax.org/searchtool/Search.do?query=AC092143.1&submit=Quick%0D%16848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AC092143.1 20_50.701_78.701 Chr20:25016495-51804476 1.1 ACOT8 ENSG00000101473 acyl-CoA thioesterase 8 chr20:44470360-44486045 The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010] Beta-oxidation of very long chain fatty acids GO:0006637;acyl-CoA metabolic process;TAS|GO:0006699;bile acid biosynthetic process;TAS|GO:0007031;peroxisome organization;IEA|GO:0009062;fatty acid catabolic process;IBA|GO:0016032;viral process;IEA|GO:0016559;peroxisome fission;IDA|GO:0033540;fatty acid beta-oxidation using acyl-CoA oxidase;TAS|GO:0036109;alpha-linolenic acid metabolic process;TAS|GO:0043649;dicarboxylic acid catabolic process;IDA|GO:0045225;negative regulation of CD4 biosynthetic process;IDA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005782;peroxisomal matrix;TAS GO:0003986;acetyl-CoA hydrolase activity;TAS|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0016289;CoA hydrolase activity;TAS|GO:0016290;palmitoyl-CoA hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0033882;choloyl-CoA hydrolase activity;IEA|GO:0047617;acyl-CoA hydrolase activity;TAS|GO:0052689;carboxylic ester hydrolase activity;IEA|GO:0052815;medium-chain acyl-CoA hydrolase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACOT8 https://www.uniprot.org/uniprot/O14734 https://www.ncbi.nlm.nih.gov/omim/?term=608123 http://www.informatics.jax.org/searchtool/Search.do?query=ACOT8&submit=Quick%0D%2753ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOT8 4_17.387_23.387 Chr4:7152608-8704080 0.68 ACOX3 ENSG00000087008 acyl-CoA oxidase 3, pristanoyl chr4:8368009-8442450 Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Narcolepsy Beta-oxidation of pristanoyl-CoA GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;IEA|GO:0008152;metabolic process;IEA|GO:0033540;fatty acid beta-oxidation using acyl-CoA oxidase;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0016020;membrane;IDA GO:0003995;acyl-CoA dehydrogenase activity;IEA|GO:0003997;acyl-CoA oxidase activity;IEA|GO:0005102;receptor binding;IPI|GO:0016402;pristanoyl-CoA oxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACOX3 https://www.uniprot.org/uniprot/O15254 https://www.ncbi.nlm.nih.gov/omim/?term=603402 http://www.informatics.jax.org/searchtool/Search.do?query=ACOX3&submit=Quick%0D%1943ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACOX3 19_20.212_38.212 Chr19:6565245-15124834 0.429 ACP5 ENSG00000102575 acid phosphatase 5, tartrate resistant chr19:11685475-11689823 This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008] Chronic renal failure|Kidney Failure, Chronic; multiple sclerosis (severity); Osteonecrosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma Homozygous mutation of this gene results in skeletal defects such as osteopetrosis, and shortening and widening of the bones. Heterozygous mutants display the same phenotype with lesser severity. Vitamin B2 (riboflavin) metabolism GO:0006771;riboflavin metabolic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032691;negative regulation of interleukin-1 beta production;IEA|GO:0032695;negative regulation of interleukin-12 production;IEA|GO:0032720;negative regulation of tumor necrosis factor production;IEA|GO:0032929;negative regulation of superoxide anion generation;IEA|GO:0034097;response to cytokine;IEA|GO:0045019;negative regulation of nitric oxide biosynthetic process;IEA|GO:0045453;bone resorption;IEA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0060349;bone morphogenesis;IEA GO:0005764;lysosome;IEA|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0003993;acid phosphatase activity;TAS|GO:0008198;ferrous iron binding;IDA|GO:0008199;ferric iron binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACP5 https://www.uniprot.org/uniprot/P13686 https://hpo.jax.org/app/browse/search?q=ACP5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=171640 http://www.informatics.jax.org/searchtool/Search.do?query=ACP5&submit=Quick%0D%2894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACP5 22_57.194_74.694 Chr22:45430165-51215481 0.519 ACR ENSG00000283539 acrosin chr22:51176624-51183762 Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008] Males homozygous for a targeted null mutation produce sperm that shows delayed fertilization in vitro. Sperm from mutant gonial cells are ineffective at fertilization in competition with normal sperm both in vitro and in vivo. Acrosome Reaction GO:0002077;acrosome matrix dispersal;NAS|GO:0006508;proteolysis;IEA|GO:0007190;activation of adenylate cyclase activity;IDA|GO:0007338;single fertilization;ISS|GO:0007340;acrosome reaction;TAS GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0043159;acrosomal matrix;TAS|GO:0043234;protein complex;IDA GO:0002020;protease binding;TAS|GO:0003677;DNA binding;NAS|GO:0004040;amidase activity;ISS|GO:0004252;serine-type endopeptidase activity;IDA|GO:0005507;copper ion binding;NAS|GO:0005515;protein binding;IPI|GO:0005537;mannose binding;IDA|GO:0008144;drug binding;ISS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0008270;zinc ion binding;NAS|GO:0016787;hydrolase activity;IEA|GO:0042806;fucose binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/ACR https://www.uniprot.org/uniprot/P10323 https://www.ncbi.nlm.nih.gov/omim/?term=102480 http://www.informatics.jax.org/searchtool/Search.do?query=ACR&submit=Quick%0D%22752ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACR 16_129.974_134.474 Chr16:87933002-90108832 0.174 ACSF3 ENSG00000176715 acyl-CoA synthetase family member 3 chr16:89154783-89222254 This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013] Acquired Immunodeficiency Syndrome|Disease Progression; Hemoglobin A, Glycosylated Synthesis of very long-chain fatty acyl-CoAs GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IDA|GO:0006633;fatty acid biosynthetic process;IDA|GO:0008152;metabolic process;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0090410;malonate catabolic process;IDA GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0016878;acid-thiol ligase activity;IDA|GO:0031957;very long-chain fatty acid-CoA ligase activity;TAS|GO:0090409;malonyl-CoA synthetase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ACSF3 https://hpo.jax.org/app/browse/search?q=ACSF3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614245 http://www.informatics.jax.org/searchtool/Search.do?query=ACSF3&submit=Quick%0D%13899ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSF3 20_50.701_78.701 Chr20:25016495-51804476 1.1 ACSS1 ENSG00000154930 acyl-CoA synthetase short chain family member 1 chr20:24986868-25039616 This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; hypertension; Kidney Diseases; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage Mice with disruptions in this gene display abnormalities in acetate metabolism. Ability to maintain body temperature under fasting conditions is reduced. Ethanol oxidation GO:0006069;ethanol oxidation;TAS|GO:0006085;acetyl-CoA biosynthetic process;IDA|GO:0008152;metabolic process;IEA|GO:0019413;acetate biosynthetic process;IEA|GO:0019427;acetyl-CoA biosynthetic process from acetate;IEA|GO:0019542;propionate biosynthetic process;IEA GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003987;acetate-CoA ligase activity;EXP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016208;AMP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACSS1 https://www.uniprot.org/uniprot/Q9NUB1 https://www.ncbi.nlm.nih.gov/omim/?term=614355 http://www.informatics.jax.org/searchtool/Search.do?query=ACSS1&submit=Quick%0D%9823ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSS1 20_50.701_78.701 Chr20:25016495-51804476 1.1 ACSS2 ENSG00000131069 acyl-CoA synthetase short chain family member 2 chr20:33459949-33515769 This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels Ethanol oxidation GO:0006069;ethanol oxidation;TAS|GO:0006085;acetyl-CoA biosynthetic process;IEA|GO:0007005;mitochondrion organization;TAS|GO:0008152;metabolic process;IEA|GO:0008610;lipid biosynthetic process;IMP|GO:0019413;acetate biosynthetic process;IEA|GO:0019427;acetyl-CoA biosynthetic process from acetate;IEA|GO:0019542;propionate biosynthetic process;IEA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IC|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003987;acetate-CoA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016208;AMP binding;IC|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACSS2 https://www.uniprot.org/uniprot/Q9NR19 https://www.ncbi.nlm.nih.gov/omim/?term=605832 http://www.informatics.jax.org/searchtool/Search.do?query=ACSS2&submit=Quick%0D%6491ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSS2 12_78.016_106.016 Chr12:64973018-92996828 1.299 ACSS3 ENSG00000111058 acyl-CoA synthetase short chain family member 3 chr12:81331594-81650533 Tobacco Use Disorder; Mental Competency; Kidney Diseases; Body Mass Index; Creatinine; Body Height Synthesis of Ketone Bodies GO:0008152;metabolic process;IEA|GO:0046951;ketone body biosynthetic process;TAS GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0003987;acetate-CoA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACSS3 https://www.uniprot.org/uniprot/Q9H6R3 https://www.ncbi.nlm.nih.gov/omim/?term=614356 http://www.informatics.jax.org/searchtool/Search.do?query=ACSS3&submit=Quick%0D%4026ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSS3 20_50.701_78.701 Chr20:25016495-51804476 1.1 ACTL10 ENSG00000182584 actin like 10 chr20:32254304-32256331 http://www.genecards.org/index.php?path=/Search/keyword/ACTL10 http://www.informatics.jax.org/searchtool/Search.do?query=ACTL10&submit=Quick%0D%14819ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTL10 19_20.212_38.212 Chr19:6565245-15124834 0.429 ACTL9 ENSG00000181786 actin like 9 chr19:8807751-8809172 GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/ACTL9 http://www.informatics.jax.org/searchtool/Search.do?query=ACTL9&submit=Quick%0D%14670ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTL9 20_50.701_78.701 Chr20:25016495-51804476 1.1 ACTR5 ENSG00000101442 ARP5 actin related protein 5 homolog chr20:37377085-37400834 Amyotrophic Lateral Sclerosis|Anoxia| DNA Damage Recognition in GG-NER GO:0006281;DNA repair;IEA|GO:0006302;double-strand break repair;IMP|GO:0006310;DNA recombination;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016579;protein deubiquitination;TAS|GO:0070914;UV-damage excision repair;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0031011;Ino80 complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ACTR5 https://www.uniprot.org/uniprot/Q9H9F9 http://www.informatics.jax.org/searchtool/Search.do?query=ACTR5&submit=Quick%0D%2740ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTR5 20_50.701_78.701 Chr20:25016495-51804476 1.1 ADA ENSG00000196839 adenosine deaminase chr20:43248163-43280874 This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008] Lymphopenia|SCID|Severe Combined Immunodeficiency; colorectal cancer; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Hyperbilirubinemia, Neonatal; asthma; Coronary Artery Disease|Metabolic Syndrome X; Alcoholism; Birth Weight; Arthritis, Rheumatoid|Rheumatoid Arthritis; mental retardation; Hyperemia; metabolic syndrome; hypertension; diabetes, type 2; Waist Circumference; IgE; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Malaria; Crohn's disease; asthma; malaria; Fatigue|Sleep Disorders|Sleep Initiation and Maintenance Disorders; Coronary Artery Disease|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Body Height; diabetes, type 1; Tunica Media; autism; Colonic Neoplasms; intrauterine growth; hepatitis C, chronic; hepatitis C; atherosclerosis, coronary; several psychiatric disorders Mice homozygous for targeted mutations that inactivate the gene die perinatally with defective purine metabolism and severe liver cell degeneration, but lack thymic abnormalities. Replacement of placental ADA can rescue ADA-deficient fetuses, resulting in mice that are T and B-cell deficient, have elevated dATP levels, and immune deficiencies resembling human ADA deficiency. Purine salvage GO:0001666;response to hypoxia;IDA|GO:0001701;in utero embryonic development;IEA|GO:0001821;histamine secretion;IEA|GO:0001829;trophectodermal cell differentiation;IEA|GO:0001889;liver development;IEA|GO:0001890;placenta development;IEA|GO:0002314;germinal center B cell differentiation;IEA|GO:0002636;positive regulation of germinal center formation;IEA|GO:0002686;negative regulation of leukocyte migration;IEA|GO:0002906;negative regulation of mature B cell apoptotic process;IEA|GO:0006154;adenosine catabolic process;IDA|GO:0006157;deoxyadenosine catabolic process;IEA|GO:0007155;cell adhesion;IEA|GO:0007568;aging;IEA|GO:0009117;nucleotide metabolic process;IEA|GO:0009168;purine ribonucleoside monophosphate biosynthetic process;IEA|GO:0010460;positive regulation of heart rate;IEA|GO:0030324;lung development;IEA|GO:0030890;positive regulation of B cell proliferation;IEA|GO:0032261;purine nucleotide salvage;IMP|GO:0033089;positive regulation of T cell differentiation in thymus;IEA|GO:0033197;response to vitamin E;IEA|GO:0033632;regulation of cell-cell adhesion mediated by integrin;IDA|GO:0042110;T cell activation;IDA|GO:0042323;negative regulation of circadian sleep/wake cycle, non-REM sleep;IEA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043101;purine-containing compound salvage;TAS|GO:0043278;response to morphine;IEA|GO:0045187;regulation of circadian sleep/wake cycle, sleep;IEA|GO:0045580;regulation of T cell differentiation;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045987;positive regulation of smooth muscle contraction;IEA|GO:0046061;dATP catabolic process;IEA|GO:0046085;adenosine metabolic process;IEA|GO:0046101;hypoxanthine biosynthetic process;IEA|GO:0046103;inosine biosynthetic process;IDA|GO:0046111;xanthine biosynthetic process;IEA|GO:0046638;positive regulation of alpha-beta T cell differentiation;IEA|GO:0048286;lung alveolus development;IEA|GO:0048541;Peyer's patch development;IEA|GO:0048566;embryonic digestive tract development;IEA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050850;positive regulation of calcium-mediated signaling;IEA|GO:0050862;positive regulation of T cell receptor signaling pathway;IEA|GO:0050870;positive regulation of T cell activation;IEA|GO:0060169;negative regulation of adenosine receptor signaling pathway;IDA|GO:0060407;negative regulation of penile erection;IEA|GO:0070244;negative regulation of thymocyte apoptotic process;IEA|GO:0070256;negative regulation of mucus secretion;IEA GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032839;dendrite cytoplasm;IEA|GO:0043025;neuronal cell body;IEA|GO:0060205;cytoplasmic vesicle lumen;IEA GO:0001883;purine nucleoside binding;IEA|GO:0004000;adenosine deaminase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IMP|GO:0016787;hydrolase activity;IEA|GO:0019239;deaminase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADA https://hpo.jax.org/app/browse/search?q=ADA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608958 http://www.informatics.jax.org/searchtool/Search.do?query=ADA&submit=Quick%0D%16477ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADA 19_20.212_38.212 Chr19:6565245-15124834 0.429 ADAMTS10 ENSG00000142303 ADAM metallopeptidase with thrombospondin type 1 motif 10 chr19:8645126-8675620 This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008] height; Dermatitis, Atopic; Body Height O-glycosylation of TSR domain-containing proteins GO:0006508;proteolysis;IEA|GO:0008150;biological_process;ND GO:0001527;microfibril;IDA|GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IDA GO:0003674;molecular_function;ND|GO:0004222;metalloendopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADAMTS10 https://www.uniprot.org/uniprot/Q9H324 https://hpo.jax.org/app/browse/search?q=ADAMTS10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608990 http://www.informatics.jax.org/searchtool/Search.do?query=ADAMTS10&submit=Quick%0D%8273ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADAMTS10 20_50.701_78.701 Chr20:25016495-51804476 1.1 ADIG ENSG00000182035 adipogenin chr20:37209838-37217106 ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM, Mar 2008] GO:0007283;spermatogenesis;IEA|GO:0045444;fat cell differentiation;IEA|GO:0045600;positive regulation of fat cell differentiation;ISS|GO:0050872;white fat cell differentiation;ISS|GO:0050873;brown fat cell differentiation;ISS GO:0005634;nucleus;ISS|GO:0005737;cytoplasm;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADIG https://www.ncbi.nlm.nih.gov/omim/?term=611396 http://www.informatics.jax.org/searchtool/Search.do?query=ADIG&submit=Quick%0D%14706ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADIG 22_57.194_74.694 Chr22:45430165-51215481 0.519 ADM2 ENSG00000128165 adrenomedullin 2 chr22:50919985-50924869 This gene encodes a member of the calcitonin gene-related peptide (CGRP)/calcitonin family of hormones that play a role in the regulation of cardiovascular homeostasis, prolactin release, anti-diuresis, anti-natriuresis, and regulation of food and water intake. The encoded protein is proteolytically processed to generate one or more biologically active peptides. [provided by RefSeq, Jul 2015] Calcitonin-like ligand receptors GO:0001525;angiogenesis;IDA|GO:0006468;protein phosphorylation;IDA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007586;digestion;IEA|GO:0007631;feeding behavior;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0045766;positive regulation of angiogenesis;IDA|GO:0045776;negative regulation of blood pressure;IEA GO:0005576;extracellular region;TAS GO:0005179;hormone activity;IEA|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ADM2 https://www.uniprot.org/uniprot/Q7Z4H4 https://www.ncbi.nlm.nih.gov/omim/?term=608682 http://www.informatics.jax.org/searchtool/Search.do?query=ADM2&submit=Quick%0D%6103ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADM2 20_50.701_78.701 Chr20:25016495-51804476 1.1 ADNP ENSG00000101126 activity dependent neuroprotector homeobox chr20:49505585-49547958 Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] diabetic nephropathy Developmental defects including the failure of the cranial neural tube to close lead to embryonic death between E8.5 and E9. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007614;short-term memory;IEA|GO:0009743;response to carbohydrate;IEA|GO:0010035;response to inorganic substance;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010835;regulation of protein ADP-ribosylation;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0030828;positive regulation of cGMP biosynthetic process;IEA|GO:0031668;cellular response to extracellular stimulus;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0032147;activation of protein kinase activity;IEA|GO:0033484;nitric oxide homeostasis;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0044849;estrous cycle;IEA|GO:0045773;positive regulation of axon extension;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050805;negative regulation of synaptic transmission;IEA|GO:0051965;positive regulation of synapse assembly;IEA GO:0005615;extracellular space;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0042277;peptide binding;IEA|GO:0046872;metal ion binding;IEA|GO:0048487;beta-tubulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ADNP https://www.uniprot.org/uniprot/Q9H2P0 https://hpo.jax.org/app/browse/search?q=ADNP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611386 http://www.informatics.jax.org/searchtool/Search.do?query=ADNP&submit=Quick%0D%2654ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ADNP 4_17.387_23.387 Chr4:7152608-8704080 0.68 AFAP1 ENSG00000196526 actin filament associated protein 1 chr4:7760441-7941653 The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] monocyte chemoattractant protein 1 (66-77); Leukocyte Count Mice homozygous for a knock-out allele exhibit inability to nurse pups due to failed secretory activation, reduced milk lipid synthesis and precocious mammary gland involution. GO:0009966;regulation of signal transduction;IEA|GO:0051493;regulation of cytoskeleton organization;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AFAP1 https://www.ncbi.nlm.nih.gov/omim/?term=608252 http://www.informatics.jax.org/searchtool/Search.do?query=AFAP1&submit=Quick%0D%16391ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AFAP1 20_50.701_78.701 Chr20:25016495-51804476 1.1 AHCY ENSG00000101444 adenosylhomocysteinase chr20:32868074-32899608 S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] colorectal cancer; Spinal Dysraphism; Fatigue|Sleep Disorders|Sleep Initiation and Maintenance Disorders; Type 2 Diabetes| edema | rosiglitazone; Cleft Lip|Cleft Palate|Tooth Abnormalities; thromboembolism, venous; Apoplexy|Brain Ischemia|Stroke; Hyperhomocysteinemia; Aortic Aneurysm, Abdominal|; Cleft Lip|Cleft Palate See the ax allele for a deletion that includes the Ahcy gene. Metabolism of ingested SeMet, Sec, MeSec into H2Se GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001666;response to hypoxia;IEA|GO:0002439;chronic inflammatory response to antigenic stimulus;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0007584;response to nutrient;IEA|GO:0019510;S-adenosylhomocysteine catabolic process;IEA|GO:0032259;methylation;TAS|GO:0033353;S-adenosylmethionine cycle;IBA|GO:0042745;circadian sleep/wake cycle;IEA|GO:0071268;homocysteine biosynthetic process;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0042470;melanosome;IEA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA GO:0004013;adenosylhomocysteinase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0030554;adenyl nucleotide binding;IEA|GO:0042802;identical protein binding;IEA|GO:0051287;NAD binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AHCY https://www.uniprot.org/uniprot/P23526 https://hpo.jax.org/app/browse/search?q=AHCY&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=180960 http://www.informatics.jax.org/searchtool/Search.do?query=AHCY&submit=Quick%0D%2742ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AHCY 20_50.701_78.701 Chr20:25016495-51804476 1.1 AL121753.1 ENSG00000261582 chr20:33802392-33802492 GO:0042256;mature ribosome assembly;IEA GO:0043022;ribosome binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/AL121753.1 http://www.informatics.jax.org/searchtool/Search.do?query=AL121753.1&submit=Quick%0D%20413ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AL121753.1 22_57.194_74.694 Chr22:45430165-51215481 0.519 ALG12 ENSG00000182858 ALG12, alpha-1,6-mannosyltransferase chr22:50293877-50312106 This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008] Congenital disorder of glycosylation type 1G Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein GO:0006457;protein folding;NAS|GO:0006486;protein glycosylation;IEA|GO:0006488;dolichol-linked oligosaccharide biosynthetic process;TAS|GO:0097502;mannosylation;IEA GO:0005783;endoplasmic reticulum;IBA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0000009;alpha-1,6-mannosyltransferase activity;IC|GO:0000030;mannosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0052917;dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALG12 https://hpo.jax.org/app/browse/search?q=ALG12&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607144 http://www.informatics.jax.org/searchtool/Search.do?query=ALG12&submit=Quick%0D%14867ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALG12 12_78.016_106.016 Chr12:64973018-92996828 1.299 ALX1 ENSG00000180318 ALX homeobox 1 chr12:85673885-85695562 The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008] Spinal Dysraphism; Lipoproteins, HDL Homozygous mutant mice exhibit perinatal lethality with acrania and meroanencephaly, but the neural tube closure defect can be ameliorated with prenatal folic acid treatment. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001502;cartilage condensation;TAS|GO:0001755;neural crest cell migration;IEA|GO:0001843;neural tube closure;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;TAS|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0014031;mesenchymal cell development;IEA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0060021;palate development;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IEA|GO:0005794;Golgi apparatus;IDA|GO:0016604;nuclear body;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ALX1 https://hpo.jax.org/app/browse/search?q=ALX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601527 http://www.informatics.jax.org/searchtool/Search.do?query=ALX1&submit=Quick%0D%14461ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ALX1 19_20.212_38.212 Chr19:6565245-15124834 0.429 ANGPTL4 ENSG00000167772 angiopoietin like 4 chr19:8428173-8439257 This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013] Type 2 Diabetes| edema | rosiglitazone; Atherosclerosis|Coronary Disease; Coronary Artery Disease; Cholesterol, HDL; lipid metabolism and adiposity; Atherosclerosis|Weight Gain; Dyslipidemias|Syndrome; plasma HDL-C levels; Chronic renal failure|Kidney Failure, Chronic; HDL cholesterol; Myocardial Infarction; diabetes, type 2; Amyotrophic Lateral Sclerosis|Anoxia| Mice homozygous for disruptions in this gene display decreased levels of triglycerides and cholesterol and a lower increase in body fat after exposure to gut microbiota. Assembly of active LPL and LIPC lipase complexes GO:0001525;angiogenesis;IEA|GO:0001666;response to hypoxia;NAS|GO:0007275;multicellular organism development;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030154;cell differentiation;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0045766;positive regulation of angiogenesis;TAS|GO:0051005;negative regulation of lipoprotein lipase activity;IDA|GO:0051260;protein homooligomerization;IEA|GO:0070328;triglyceride homeostasis;IEA|GO:2000352;negative regulation of endothelial cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0072562;blood microparticle;IDA GO:0004857;enzyme inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ANGPTL4 https://hpo.jax.org/app/browse/search?q=ANGPTL4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605910 http://www.informatics.jax.org/searchtool/Search.do?query=ANGPTL4&submit=Quick%0D%12112ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANGPTL4 19_20.212_38.212 Chr19:6565245-15124834 0.429 ANGPTL6 ENSG00000130812 angiopoietin like 6 chr19:10203014-10213472 metabolic syndrome; protein quantitative trait loci; Thyrotropin Most mice homozygous for a knock-out allele die around E13 with cardiovascular defects; survivors develop obesity, lipid accumulation in skeletal muscle and liver, hyperglycemia and hyperinsulinemia, and insulin resistance accompanied by reduced energy expenditure and whole-body oxygen consumption. GO:0001525;angiogenesis;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA GO:0005576;extracellular region;IEA|GO:0030141;secretory granule;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/ANGPTL6 https://www.uniprot.org/uniprot/Q8NI99 https://hpo.jax.org/app/browse/search?q=ANGPTL6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609336 http://www.informatics.jax.org/searchtool/Search.do?query=ANGPTL6&submit=Quick%0D%6450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANGPTL6 16_129.974_134.474 Chr16:87933002-90108832 0.174 ANKRD11 ENSG00000167522 ankyrin repeat domain 11 chr16:89334038-89556969 This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012] Heart Failure; Schizophrenia; Blood Pressure Determination Mice homozygous for a spontaneous allele die by E9.5, are small and fail to turn. Mice heterozygous for a spontaneous allele exhibit craniofacial abnormalities, decreased weight, osteoporosis and osteopenia. GO:0001701;in utero embryonic development;IEA|GO:0001894;tissue homeostasis;IEA|GO:0035264;multicellular organism growth;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IMP|GO:0048705;skeletal system morphogenesis;IMP|GO:0060323;head morphogenesis;IEA|GO:0060325;face morphogenesis;IMP|GO:0060348;bone development;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA http://www.genecards.org/index.php?path=/Search/keyword/ANKRD11 https://hpo.jax.org/app/browse/search?q=ANKRD11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611192 http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD11&submit=Quick%0D%12026ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD11 11_21.322_43.322 Chr11:11392976-25199292 1.269 ANO5 ENSG00000171714 anoctamin 5 chr11:22214722-22304903 This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] miyoshi muscular dystrophy type 3 (MMD3) One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility. Stimuli-sensing channels GO:0006821;chloride transport;IDA|GO:0034220;ion transmembrane transport;TAS|GO:1902476;chloride transmembrane transport;IEA GO:0005622;intracellular;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031982;vesicle;IEA GO:0005229;intracellular calcium activated chloride channel activity;TAS|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ANO5 https://hpo.jax.org/app/browse/search?q=ANO5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608662 http://www.informatics.jax.org/searchtool/Search.do?query=ANO5&submit=Quick%0D%12991ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ANO5 19_20.212_38.212 Chr19:6565245-15124834 0.429 AP1M2 ENSG00000129354 adaptor related protein complex 1 mu 2 subunit chr19:10683347-10697991 This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Homozygous null mice show small intestine crypt hyperplasia and villous dysplasia due to altered polarity and hyperproliferation of epithelial cells, exhibit spontaneous chronic colitis due to epithelial immune dysfunction, and develop a digestive disorder that causes malnutrition, growth retardation and early death. Golgi Associated Vesicle Biogenesis GO:0006605;protein targeting;TAS|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006903;vesicle targeting;TAS|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0050690;regulation of defense response to virus by virus;TAS GO:0000139;Golgi membrane;TAS|GO:0005765;lysosomal membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0030131;clathrin adaptor complex;IEA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0030665;clathrin-coated vesicle membrane;IEA|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/AP1M2 https://www.uniprot.org/uniprot/Q9Y6Q5 https://www.ncbi.nlm.nih.gov/omim/?term=607309 http://www.informatics.jax.org/searchtool/Search.do?query=AP1M2&submit=Quick%0D%6244ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=AP1M2 16_129.974_134.474 Chr16:87933002-90108832 0.174 APRT ENSG00000198931 adenine phosphoribosyltransferase chr16:88875747-88878352 Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Adenine phosphoribosyltransferase deficiency Most homozygous null mutants may die by 6 months of age with highly abnormal kidney morphology and kidney tubule obstructions depending on the genetic background. Mice have elevated urinary 2,8-hydroxyadenine and crystalline deposits in kidney. Severity varies by genetic background. Purine salvage GO:0006166;purine ribonucleoside salvage;IEA|GO:0006168;adenine salvage;IEA|GO:0007595;lactation;IEA|GO:0007625;grooming behavior;IEA|GO:0009116;nucleoside metabolic process;IEA|GO:0032869;cellular response to insulin stimulus;IEA|GO:0043101;purine-containing compound salvage;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0044209;AMP salvage;IEA|GO:0046083;adenine metabolic process;IEA GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0002055;adenine binding;IEA|GO:0003999;adenine phosphoribosyltransferase activity;TAS|GO:0016208;AMP binding;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/APRT https://hpo.jax.org/app/browse/search?q=APRT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=102600 http://www.informatics.jax.org/searchtool/Search.do?query=APRT&submit=Quick%0D%17086ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=APRT 20_50.701_78.701 Chr20:25016495-51804476 1.1 ARFGEF2 ENSG00000124198 ADP ribosylation factor guanine nucleotide exchange factor 2 chr20:47538427-47653230 ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008] PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY Mice homozygous for a knock-out allele exhibit exencephaly, midline gut closure defects, periventricular and subependymal heterotopia, and impaired neuronal migration. Association of TriC/CCT with target proteins during biosynthesis GO:0001881;receptor recycling;IDA|GO:0006810;transport;IEA|GO:0006887;exocytosis;TAS|GO:0006893;Golgi to plasma membrane transport;IMP|GO:0007032;endosome organization;IMP|GO:0010256;endomembrane system organization;IMP|GO:0015031;protein transport;IEA|GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0032760;positive regulation of tumor necrosis factor production;IMP|GO:0035556;intracellular signal transduction;IDA|GO:0043547;positive regulation of GTPase activity;IEA GO:0000139;Golgi membrane;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005879;axonemal microtubule;IEA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032279;asymmetric synapse;IEA|GO:0032280;symmetric synapse;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0045202;synapse;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055037;recycling endosome;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0017022;myosin binding;IEA|GO:0034237;protein kinase A regulatory subunit binding;IDA|GO:0050811;GABA receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARFGEF2 https://www.uniprot.org/uniprot/Q9Y6D5 https://hpo.jax.org/app/browse/search?q=ARFGEF2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605371 http://www.informatics.jax.org/searchtool/Search.do?query=ARFGEF2&submit=Quick%0D%5612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARFGEF2 20_50.701_78.701 Chr20:25016495-51804476 1.1 ARHGAP40 ENSG00000124143 Rho GTPase activating protein 40 chr20:37230577-37279678 Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005829;cytosol;TAS GO:0005096;GTPase activator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP40 https://www.uniprot.org/uniprot/Q5TG30 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP40&submit=Quick%0D%5596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP40 19_20.212_38.212 Chr19:6565245-15124834 0.429 ARHGEF18 ENSG00000104880 Rho/Rac guanine nucleotide exchange factor 18 chr19:7459999-7537363 Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] Mice homozygous for a gene trap insertion exhibit greatly reduced viability. G alpha (12/13) signalling events GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0008360;regulation of cell shape;IDA|GO:0030036;actin cytoskeleton organization;IDA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;TAS|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ARHGEF18 https://www.uniprot.org/uniprot/Q6ZSZ5 https://hpo.jax.org/app/browse/search?q=ARHGEF18&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616432 http://www.informatics.jax.org/searchtool/Search.do?query=ARHGEF18&submit=Quick%0D%3187ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGEF18 11_21.322_43.322 Chr11:11392976-25199292 1.269 ARNTL ENSG00000133794 aryl hydrocarbon receptor nuclear translocator like chr11:13298199-13408813 The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] bipolar disorder schizoaffective disorder schizophrenia; hypertension; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Triglycerides; Type 2 Diabetes| edema | rosiglitazone; Alcoholism; prostate cancer; Obesity; Bipolar Disorder; bipolar disorder; depression; schizophrenia | bipolar disorder; Heart Failure; Sleep Disorders; metabolic syndrome Homozygous mutation of this gene results in abnormal light/dark cycle activity and decreases overall activity levels. Mice homozygous for another knock-out allele exhibit loss of circadian rhythm in locomotor activity, dyslipidemia, ectopic fat formationand altered energy homeostasis. Circadian Clock GO:0000060;protein import into nucleus, translocation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007283;spermatogenesis;ISS|GO:0007623;circadian rhythm;TAS|GO:0032007;negative regulation of TOR signaling;ISS|GO:0032922;circadian regulation of gene expression;IDA|GO:0042176;regulation of protein catabolic process;IEA|GO:0042634;regulation of hair cycle;IMP|GO:0042753;positive regulation of circadian rhythm;ISS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;ISS|GO:0045599;negative regulation of fat cell differentiation;ISS|GO:0045892;negative regulation of transcription, DNA-templated;ISS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IGI|GO:0048511;rhythmic process;IEA|GO:0050767;regulation of neurogenesis;ISS|GO:0050796;regulation of insulin secretion;ISS|GO:0051726;regulation of cell cycle;ISS|GO:0051775;response to redox state;IDA|GO:0060137;maternal process involved in parturition;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;ISS|GO:0090403;oxidative stress-induced premature senescence;ISS|GO:2000074;regulation of type B pancreatic cell development;ISS|GO:2000323;negative regulation of glucocorticoid receptor signaling pathway;ISS|GO:2000772;regulation of cellular senescence;ISS|GO:2001016;positive regulation of skeletal muscle cell differentiation;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IPI|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IEA|GO:0016605;PML body;IEA|GO:0033391;chromatoid body;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000976;transcription regulatory region sequence-specific DNA binding;ISS|GO:0000982;transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001046;core promoter sequence-specific DNA binding;IEA|GO:0001047;core promoter binding;ISS|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003677;DNA binding;IGI|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0017162;aryl hydrocarbon receptor binding;IPI|GO:0043425;bHLH transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;ISS|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA|GO:0051879;Hsp90 protein binding;IDA|GO:0070491;repressing transcription factor binding;IPI|GO:0070888;E-box binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ARNTL https://www.uniprot.org/uniprot/O00327 https://www.ncbi.nlm.nih.gov/omim/?term=602550 http://www.informatics.jax.org/searchtool/Search.do?query=ARNTL&submit=Quick%0D%6870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARNTL 22_57.194_74.694 Chr22:45430165-51215481 0.519 ARSA ENSG00000100299 arylsulfatase A chr22:51061182-51066607 The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010] alcoholism; Longevity; Alzheimer's disease; Down syndrome; metachromatic leukodystrophy; arylsulphatase A pseudodeficiency; normal nerve conduction; Chronic renal failure|Kidney Failure, Chronic; lead toxicity Homozygous mice exhibit impaired balance and spatial learning ability. Sulfatide accumulates in the white matter of the brain and a reduced myelin sheath thickness in the corpus callosum and optic nerves is seen. A low frequency of head tremor develops after 2 years of age. Neutrophil degranulation GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006914;autophagy;IEA|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0007417;central nervous system development;IEA|GO:0007584;response to nutrient;IEA|GO:0008152;metabolic process;IEA|GO:0009268;response to pH;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043627;response to estrogen;IEA|GO:0043687;post-translational protein modification;TAS|GO:0045471;response to ethanol;IEA|GO:0051597;response to methylmercury;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005768;endosome;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031232;extrinsic component of external side of plasma membrane;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;IEA|GO:0004098;cerebroside-sulfatase activity;TAS|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ARSA https://www.uniprot.org/uniprot/P15289 https://hpo.jax.org/app/browse/search?q=ARSA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607574 http://www.informatics.jax.org/searchtool/Search.do?query=ARSA&submit=Quick%0D%2466ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ARSA 19_20.212_38.212 Chr19:6565245-15124834 0.429 ASF1B ENSG00000105011 anti-silencing function 1B histone chaperone chr19:14230321-14247768 This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Mutant mice are viable and fertile and exhibit no overt abnormal phenotype. GO:0006333;chromatin assembly or disassembly;IEA|GO:0006334;nucleosome assembly;IEA|GO:0006335;DNA replication-dependent nucleosome assembly;IDA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030154;cell differentiation;IEA GO:0000785;chromatin;IEA|GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0042393;histone binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASF1B https://www.uniprot.org/uniprot/Q9NVP2 https://www.ncbi.nlm.nih.gov/omim/?term=609190 http://www.informatics.jax.org/searchtool/Search.do?query=ASF1B&submit=Quick%0D%3225ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASF1B 20_50.701_78.701 Chr20:25016495-51804476 1.1 ASIP ENSG00000101440 agouti signaling protein chr20:32782375-32857150 In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008] Carcinoma, Basal Cell|Melanoma|Neoplasm Metastasis|Skin Neoplasms; pigmentation; Burning and freckling; Carcinoma, Basal Cell|Melanoma|Skin Neoplasms; Melanoma; skin color; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; red vs non-red hair color; skin sensitivity to sun; freckles; melanoma; null; melanoma; pigmentation; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit embryonic lethality at E12.5 associated with growth retardation, abnormal heart development, and abnormal epicardial cell development. GO:0006091;generation of precursor metabolites and energy;TAS|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0008343;adult feeding behavior;IEA|GO:0009755;hormone-mediated signaling pathway;IEA|GO:0032402;melanosome transport;IEA|GO:0032438;melanosome organization;IEA|GO:0040030;regulation of molecular function, epigenetic;IEA|GO:0042438;melanin biosynthetic process;IEA|GO:0043473;pigmentation;IEA|GO:0048023;positive regulation of melanin biosynthetic process;IEA|GO:0071514;genetic imprinting;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS|GO:0005622;intracellular;IEA GO:0005102;receptor binding;TAS|GO:0031779;melanocortin receptor binding;IEA|GO:0031781;type 3 melanocortin receptor binding;IEA|GO:0031782;type 4 melanocortin receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASIP https://www.uniprot.org/uniprot/P42127 https://www.ncbi.nlm.nih.gov/omim/?term=600201 http://www.informatics.jax.org/searchtool/Search.do?query=ASIP&submit=Quick%0D%2738ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASIP 19_20.212_38.212 Chr19:6565245-15124834 0.429 ASNA1 ENSG00000198356 arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) chr19:12847953-12859137 This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011] Waist Circumference Mice homozygous for a null mutation display early embryonic lethality. XBP1(S) activates chaperone genes GO:0006810;transport;TAS|GO:0015698;inorganic anion transport;IEA|GO:0036498;IRE1-mediated unfolded protein response;TAS|GO:0045048;protein insertion into ER membrane;IEA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;TAS|GO:0005737;cytoplasm;TAS|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0015105;arsenite transmembrane transporter activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0043492;ATPase activity, coupled to movement of substances;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASNA1 https://www.ncbi.nlm.nih.gov/omim/?term=601913 http://www.informatics.jax.org/searchtool/Search.do?query=ASNA1&submit=Quick%0D%16877ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASNA1 20_50.701_78.701 Chr20:25016495-51804476 1.1 ASXL1 ENSG00000171456 additional sex combs like 1, transcriptional regulator chr20:30946155-31027122 This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] Leukemia, Myelomonocytic, Chronic; Leukemia, Myeloid, Acute|Leukemia, Myelomonocytic, Chronic|Myelodysplastic Syndromes|Preleukemia; myeloid leukemia; Leukemia, Myelomonocytic, Chronic|Myelodysplastic Syndromes; Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia; Myeloproliferative Disorders Disruption of this gene causes alterations in lymphocyte development in adult mice. Mice homozygous for a different knock-out allele exhibit complete lethality. Mice heterozygous for this allele exhibit eye opacity and abnormal vertebrae morphology. UCH proteinases GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000902;cell morphogenesis;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016579;protein deubiquitination;TAS|GO:0030097;hemopoiesis;IEA|GO:0032526;response to retinoic acid;IEA|GO:0035359;negative regulation of peroxisome proliferator activated receptor signaling pathway;IEA|GO:0035522;monoubiquitinated histone H2A deubiquitination;IDA|GO:0045599;negative regulation of fat cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048386;positive regulation of retinoic acid receptor signaling pathway;IEA|GO:0048387;negative regulation of retinoic acid receptor signaling pathway;IEA|GO:0048534;hematopoietic or lymphoid organ development;IEA|GO:0048538;thymus development;IEA|GO:0048539;bone marrow development;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0060348;bone development;IEA|GO:0060430;lung saccule development;IEA GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0035517;PR-DUB complex;IDA|GO:0070062;extracellular exosome;IDA GO:0003677;DNA binding;IEA|GO:0003713;transcription coactivator activity;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0042974;retinoic acid receptor binding;IEA|GO:0042975;peroxisome proliferator activated receptor binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ASXL1 https://hpo.jax.org/app/browse/search?q=ASXL1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612990 http://www.informatics.jax.org/searchtool/Search.do?query=ASXL1&submit=Quick%0D%12930ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ASXL1 19_20.212_38.212 Chr19:6565245-15124834 0.429 ATG4D ENSG00000130734 autophagy related 4D cysteine peptidase chr19:10654571-10664094 Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Macroautophagy GO:0000045;autophagosome assembly;IBA|GO:0000422;mitophagy;IBA|GO:0006501;C-terminal protein lipidation;IBA|GO:0006508;proteolysis;IEA|GO:0006612;protein targeting to membrane;IBA|GO:0006810;transport;IEA|GO:0006914;autophagy;IEA|GO:0006915;apoptotic process;IEA|GO:0015031;protein transport;IEA|GO:0044804;nucleophagy;IBA|GO:0051697;protein delipidation;IBA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005829;cytosol;IBA GO:0004197;cysteine-type endopeptidase activity;ISS|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATG4D https://www.uniprot.org/uniprot/Q86TL0 https://www.ncbi.nlm.nih.gov/omim/?term=611340 http://www.informatics.jax.org/searchtool/Search.do?query=ATG4D&submit=Quick%0D%6430ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATG4D 16_101.974_110.974 Chr16:79461830-82833302 0.225 ATMIN ENSG00000166454 ATM interactor chr16:81069452-81080963 smoking cessation; high-density lipoprotein cholesterol Mice homozygous for a knock-out allele exhibit fetal lethality, craniofacial defects, midbrain exencephaly, and premature senescence of mouse embryonic fibroblasts. Homozygotes for an ENU-induced mutation exhibit left-right patterning defects. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0044458;motile cilium assembly;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:1902857;positive regulation of non-motile cilium assembly;IEA GO:0005634;nucleus;IEA|GO:0016604;nuclear body;IDA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070840;dynein complex binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ATMIN https://www.ncbi.nlm.nih.gov/omim/?term=614693 http://www.informatics.jax.org/searchtool/Search.do?query=ATMIN&submit=Quick%0D%11799ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATMIN 12_78.016_106.016 Chr12:64973018-92996828 1.299 ATP2B1 ENSG00000070961 ATPase plasma membrane Ca2+ transporting 1 chr12:89981828-90103077 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Hypertension; Blood Pressure; Diastolic blood pressure; Type 2 Diabetes| edema | rosiglitazone; systolic blood pressure; Biomedical quantitative traits; normal variation; hypertension Homozygous null mice display embryonic lethality. Ion transport by P-type ATPases GO:0003407;neural retina development;IEA|GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0006874;cellular calcium ion homeostasis;IBA|GO:0007420;brain development;IEA|GO:0007568;aging;IEA|GO:0009409;response to cold;IEA|GO:0034220;ion transmembrane transport;TAS|GO:0051480;regulation of cytosolic calcium ion concentration;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071305;cellular response to vitamin D;IEA|GO:0071386;cellular response to corticosterone stimulus;IEA|GO:0099132;ATP hydrolysis coupled cation transmembrane transport;IEA|GO:1901660;calcium ion export;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1990034;calcium ion export from cell;IDA GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009898;cytoplasmic side of plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0032590;dendrite membrane;IEA|GO:0032591;dendritic spine membrane;IEA|GO:0032809;neuronal cell body membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IBA|GO:0045121;membrane raft;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005388;calcium-transporting ATPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0015085;calcium ion transmembrane transporter activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0030165;PDZ domain binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP2B1 https://www.uniprot.org/uniprot/P20020 https://www.ncbi.nlm.nih.gov/omim/?term=108731 http://www.informatics.jax.org/searchtool/Search.do?query=ATP2B1&submit=Quick%0D%1383ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP2B1 20_50.701_78.701 Chr20:25016495-51804476 1.1 ATP9A ENSG00000054793 ATPase phospholipid transporting 9A (putative) chr20:50213053-50385173 Tobacco Use Disorder Ion transport by P-type ATPases GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;IBA|GO:0006897;endocytosis;IBA|GO:0015914;phospholipid transport;IEA|GO:0045332;phospholipid translocation;NAS GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004012;phospholipid-translocating ATPase activity;IBA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATP9A https://www.uniprot.org/uniprot/O75110 https://www.ncbi.nlm.nih.gov/omim/?term=609126 http://www.informatics.jax.org/searchtool/Search.do?query=ATP9A&submit=Quick%0D%981ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP9A 22_57.194_74.694 Chr22:45430165-51215481 0.519 ATXN10 ENSG00000130638 ataxin 10 chr22:46067678-46241187 This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016] Cerebellar Ataxia|; spinocerebellar ataxia; Tobacco Use Disorder Homozygous null mice die at early postimplantation stages. GO:0007399;nervous system development;IMP|GO:0031175;neuron projection development;IDA|GO:0060271;cilium assembly;IEA|GO:0070207;protein homotrimerization;IEA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030425;dendrite;IDA|GO:0043025;neuronal cell body;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0042802;identical protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ATXN10 https://www.uniprot.org/uniprot/Q9UBB4 https://hpo.jax.org/app/browse/search?q=ATXN10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611150 http://www.informatics.jax.org/searchtool/Search.do?query=ATXN10&submit=Quick%0D%6402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATXN10 12_78.016_106.016 Chr12:64973018-92996828 1.299 ATXN7L3B ENSG00000253719 ataxin 7 like 3B chr12:74931551-74935223 Hematocrit; Cardiomegaly; Hemoglobins; Body Height; Osteoporosis http://www.genecards.org/index.php?path=/Search/keyword/ATXN7L3B https://www.ncbi.nlm.nih.gov/omim/?term=615579 http://www.informatics.jax.org/searchtool/Search.do?query=ATXN7L3B&submit=Quick%0D%20034ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ATXN7L3B 20_50.701_78.701 Chr20:25016495-51804476 1.1 B4GALT5 ENSG00000158470 beta-1,4-galactosyltransferase 5 chr20:48249482-48330415 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008] Homozygous mutation of this gene results in lethality before weaning. Heterozygous mutant mice exhibit increased anxiety-like response. N-Glycan antennae elongation GO:0005975;carbohydrate metabolic process;IEA|GO:0006486;protein glycosylation;IEA|GO:0016266;O-glycan processing;TAS|GO:0018146;keratan sulfate biosynthetic process;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032580;Golgi cisterna membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003831;beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity;TAS|GO:0008378;galactosyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/B4GALT5 https://www.ncbi.nlm.nih.gov/omim/?term=604016 http://www.informatics.jax.org/searchtool/Search.do?query=B4GALT5&submit=Quick%0D%10209ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=B4GALT5 16_129.974_134.474 Chr16:87933002-90108832 0.174 BANP ENSG00000172530 BTG3 associated nuclear protein chr16:87982850-88110924 This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] Fibrinogen; Menopause; Stroke; Cornea; Tobacco Use Disorder Regulation of TP53 Activity through Association with Co-factors GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0034504;protein localization to nucleus;IEA|GO:0042177;negative regulation of protein catabolic process;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016604;nuclear body;IDA GO:0002039;p53 binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BANP https://www.ncbi.nlm.nih.gov/omim/?term=611564 http://www.informatics.jax.org/searchtool/Search.do?query=BANP&submit=Quick%0D%13183ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BANP 12_78.016_106.016 Chr12:64973018-92996828 1.299 BBS10 ENSG00000179941 Bardet-Biedl syndrome 10 chr12:76738254-76742222 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010] Retinal Diseases Mice homozygous for a knock-out allele develop obesity, hyperleptinemia, retinal degeneration, structural defects in renal glomeruli, microalbuminuria, polyuria, increased circulating antidiuretic hormone levels, and vacuolated renal epithelial cells. BBSome-mediated cargo-targeting to cilium GO:0001895;retina homeostasis;IMP|GO:0007601;visual perception;IEA|GO:0043254;regulation of protein complex assembly;IMP|GO:0045494;photoreceptor cell maintenance;IMP|GO:0050896;response to stimulus;IEA|GO:0051131;chaperone-mediated protein complex assembly;IMP|GO:1905515;non-motile cilium assembly;IMP GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BBS10 https://hpo.jax.org/app/browse/search?q=BBS10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610148 http://www.informatics.jax.org/searchtool/Search.do?query=BBS10&submit=Quick%0D%14412ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BBS10 20_50.701_78.701 Chr20:25016495-51804476 1.1 BCAS4 ENSG00000124243 breast carcinoma amplified sequence 4 chr20:49411431-49493714 Coronary Artery Disease GO:0046907;intracellular transport;IBA GO:0005737;cytoplasm;IEA|GO:0031083;BLOC-1 complex;IBA http://www.genecards.org/index.php?path=/Search/keyword/BCAS4 https://www.uniprot.org/uniprot/Q8TDM0 https://www.ncbi.nlm.nih.gov/omim/?term=607471 http://www.informatics.jax.org/searchtool/Search.do?query=BCAS4&submit=Quick%0D%5632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BCAS4 20_50.701_78.701 Chr20:25016495-51804476 1.1 BCL2L1 ENSG00000171552 BCL2 like 1 chr20:30252255-30311792 The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015] colorectal cancer; benzene haematotoxicity; Lymphoma, B-Cell|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; bladder cancer; ovarian cancer; Alzheimer Disease|Alzheimer's Disease|Amnesia; esophageal adenocarcinoma; Lymphoma, Non-Hodgkin; multiple sclerosis; prostate cancer; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia Homozygous null mutants die at embryonic day 13 with extensive apoptotic cell death, hypomorphic mutants have severe reproductive defects due to abnormal germ cell development. Mice lacking the gamma isoform show immune defects. The NLRP1 inflammasome GO:0000910;cytokinesis;IMP|GO:0001541;ovarian follicle development;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006897;endocytosis;IEA|GO:0006915;apoptotic process;IEA|GO:0007093;mitotic cell cycle checkpoint;IMP|GO:0007281;germ cell development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008283;cell proliferation;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:0008637;apoptotic mitochondrial changes;TAS|GO:0009314;response to radiation;IEA|GO:0009566;fertilization;IEA|GO:0009615;response to virus;IEA|GO:0019050;suppression by virus of host apoptotic process;IDA|GO:0034097;response to cytokine;IDA|GO:0040007;growth;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0046898;response to cycloheximide;IEA|GO:0046902;regulation of mitochondrial membrane permeability;IDA|GO:0051402;neuron apoptotic process;IEA|GO:0051881;regulation of mitochondrial membrane potential;IDA|GO:0060154;cellular process regulating host cell cycle in response to virus;IEA|GO:0070584;mitochondrion morphogenesis;IEA|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071312;cellular response to alkaloid;IEA|GO:0071480;cellular response to gamma radiation;IEA|GO:0071839;apoptotic process in bone marrow;IEA|GO:0090005;negative regulation of establishment of protein localization to plasma membrane;IDA|GO:0090201;negative regulation of release of cytochrome c from mitochondria;IC|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:1900118;negative regulation of execution phase of apoptosis;IDA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IDA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;TAS|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IDA|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031965;nuclear membrane;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0045202;synapse;IEA|GO:0097136;Bcl-2 family protein complex;IDA GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA|GO:0051434;BH3 domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BCL2L1 https://www.ncbi.nlm.nih.gov/omim/?term=600039 http://www.informatics.jax.org/searchtool/Search.do?query=BCL2L1&submit=Quick%0D%12960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2L1 19_20.212_38.212 Chr19:6565245-15124834 0.429 BEST2 ENSG00000039987 bestrophin 2 chr19:12862516-12869272 This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008] Mice homozygous for a null allele exhibit ocular hypotension. Both heterozygous and homozygous null mice show a greater reduction in intraocular pressure following treatment with brinzolamide. Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0007608;sensory perception of smell;ISS|GO:0008150;biological_process;ND|GO:0051899;membrane depolarization;ISS|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0005929;cilium;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA GO:0003674;molecular_function;ND|GO:0005254;chloride channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/BEST2 https://www.uniprot.org/uniprot/Q8NFU1 https://www.ncbi.nlm.nih.gov/omim/?term=607335 http://www.informatics.jax.org/searchtool/Search.do?query=BEST2&submit=Quick%0D%814ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BEST2 12_78.016_106.016 Chr12:64973018-92996828 1.299 BEST3 ENSG00000127325 bestrophin 3 chr12:70037140-70093256 BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008] Tunica Media Stimuli-sensing channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0008150;biological_process;ND|GO:0015698;inorganic anion transport;IEA|GO:0043271;negative regulation of ion transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034707;chloride channel complex;IEA GO:0003674;molecular_function;ND|GO:0005254;chloride channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/BEST3 https://www.uniprot.org/uniprot/Q8N1M1 https://www.ncbi.nlm.nih.gov/omim/?term=607337 http://www.informatics.jax.org/searchtool/Search.do?query=BEST3&submit=Quick%0D%6021ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BEST3 20_50.701_78.701 Chr20:25016495-51804476 1.1 BLCAP ENSG00000166619 bladder cancer associated protein chr20:36120874-36156333 This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protein. This gene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating from the upstream promoter are expressed preferentially from the maternal allele, while transcript variants initiating downstream of the interspersed NNAT gene (GeneID:4826) are expressed from the paternal allele. Transcripts at this locus may also undergo A to I editing, resulting in amino acid changes at three positions in the N-terminus of the protein. [provided by RefSeq, Nov 2015] GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0030262;apoptotic nuclear changes;IDA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/BLCAP https://www.ncbi.nlm.nih.gov/omim/?term=613110 http://www.informatics.jax.org/searchtool/Search.do?query=BLCAP&submit=Quick%0D%11838ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BLCAP 20_50.701_78.701 Chr20:25016495-51804476 1.1 BPI ENSG00000101425 bactericidal/permeability-increasing protein chr20:36888551-36965907 This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014] Meningeal Neoplasms|meningioma; sepsis; Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; periodontal disease; myocardial infarct; Mental Disorders; Crohn's disease; ulcerative colitis; Colitis, Ulcerative|Crohn Disease|Inflammatory Bowel Diseases; Sepsis|Systemic infection; Heart Rate; bladder cancer; Nonsurvivors of sepsis (male only) Antimicrobial peptides GO:0006955;immune response;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0032715;negative regulation of interleukin-6 production;IDA|GO:0032717;negative regulation of interleukin-8 production;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0042742;defense response to bacterium;IEA|GO:0043031;negative regulation of macrophage activation;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0050829;defense response to Gram-negative bacterium;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0001530;lipopolysaccharide binding;IDA|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPI https://www.uniprot.org/uniprot/P17213 https://www.ncbi.nlm.nih.gov/omim/?term=109195 http://www.informatics.jax.org/searchtool/Search.do?query=BPI&submit=Quick%0D%2734ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPI 20_50.701_78.701 Chr20:25016495-51804476 1.1 BPIFA1 ENSG00000198183 BPI fold containing family A member 1 chr20:31823801-31831115 This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014] allergic rhinitis; Carcinoma, Squamous Cell|Nasopharyngeal Neoplasms; patent ductus arteriosus Mice homozygous for a knock-out or ENU-induced allele exhibit increased susceptiblity to Mycoplasma pneumoniae infection. Club cell-specific conditional or constitutive homozygous KO also increases susceptibility to Influenza A virus infection. Antimicrobial peptides GO:0002376;immune system process;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0019731;antibacterial humoral response;IDA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IDA|GO:0050828;regulation of liquid surface tension;IDA|GO:0050891;multicellular organismal water homeostasis;IDA|GO:1900229;negative regulation of single-species biofilm formation in or on host organism;IMP|GO:1902305;regulation of sodium ion transmembrane transport;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFA1 https://www.ncbi.nlm.nih.gov/omim/?term=607412 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFA1&submit=Quick%0D%16841ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFA1 20_50.701_78.701 Chr20:25016495-51804476 1.1 BPIFA2 ENSG00000131050 BPI fold containing family A member 2 chr20:31749574-31769218 This gene encodes a member of the palate, lung and nasal epithelium clone (Plunc) family of proteins. Members of this family have been proposed to play a role in the local antibacterial response in nose, mouth and upper respiratory pathways. The encoded soluble salivary protein binds bacterial lipopolysaccharide (LPS) and inhibits bacterial growth. This gene is present in a gene cluster on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Antimicrobial peptides GO:0019730;antimicrobial humoral response;TAS|GO:0042742;defense response to bacterium;IEA GO:0005576;extracellular region;TAS|GO:0070062;extracellular exosome;IDA GO:0001530;lipopolysaccharide binding;IDA|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFA2 https://www.uniprot.org/uniprot/Q96DR5 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFA2&submit=Quick%0D%6484ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFA2 20_50.701_78.701 Chr20:25016495-51804476 1.1 BPIFA3 ENSG00000131059 BPI fold containing family A member 3 chr20:31805116-31815564 Blood Pressure; Body Weight; Body Height; Bone Density Male mice homozygous for a null allele exhibit normal fecundity. GO:0005576;extracellular region;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFA3 https://www.uniprot.org/uniprot/Q9BQP9 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFA3&submit=Quick%0D%6487ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFA3 20_50.701_78.701 Chr20:25016495-51804476 1.1 BPIFB1 ENSG00000125999 BPI fold containing family B member 1 chr20:31861286-31897684 The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit strain background sensitive transmission ratio distortion and increased basal MUC5B production. Antimicrobial peptides GO:0002227;innate immune response in mucosa;IDA|GO:0002376;immune system process;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0034144;negative regulation of toll-like receptor 4 signaling pathway;IDA|GO:0045087;innate immune response;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB1 https://www.uniprot.org/uniprot/Q8TDL5 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB1&submit=Quick%0D%5898ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB1 20_50.701_78.701 Chr20:25016495-51804476 1.1 BPIFB2 ENSG00000078898 BPI fold containing family B member 2 chr20:31595406-31611515 This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008] Post-translational protein phosphorylation GO:0019730;antimicrobial humoral response;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB2 https://www.uniprot.org/uniprot/Q8N4F0 https://www.ncbi.nlm.nih.gov/omim/?term=614108 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB2&submit=Quick%0D%1679ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB2 20_50.701_78.701 Chr20:25016495-51804476 1.1 BPIFB3 ENSG00000186190 BPI fold containing family B member 3 chr20:31643230-31661434 Mice homozygous for disruptions in this gene display a normal phenotype. GO:0045087;innate immune response;NAS GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IDA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB3 https://www.ncbi.nlm.nih.gov/omim/?term=615717 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB3&submit=Quick%0D%15590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB3 20_50.701_78.701 Chr20:25016495-51804476 1.1 BPIFB4 ENSG00000186191 BPI fold containing family B member 4 chr20:31667450-31699557 Antimicrobial peptides GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB4 https://www.ncbi.nlm.nih.gov/omim/?term=615718 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB4&submit=Quick%0D%15591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB4 20_50.701_78.701 Chr20:25016495-51804476 1.1 BPIFB6 ENSG00000167104 BPI fold containing family B member 6 chr20:31619454-31631853 BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3 Antimicrobial peptides GO:0005576;extracellular region;IEA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BPIFB6 https://www.ncbi.nlm.nih.gov/omim/?term=614110 http://www.informatics.jax.org/searchtool/Search.do?query=BPIFB6&submit=Quick%0D%11947ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BPIFB6 22_57.194_74.694 Chr22:45430165-51215481 0.519 BRD1 ENSG00000100425 bromodomain containing 1 chr22:50166931-50221160 This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schozophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015] Tobacco Use Disorder; schizophrenia; schizophrenia | bipolar disorder Mice homozygous for a knock-out allele exhibit prenatal letahlity associated with severe growth retardation, abnormal lens, anemia, and impaired fetal hematopoiesis and erythropoiesis. Regulation of TP53 Activity through Acetylation GO:0016569;covalent chromatin modification;IEA|GO:0035902;response to immobilization stress;IEA|GO:0043966;histone H3 acetylation;IDA|GO:0051602;response to electrical stimulus;IEA GO:0005634;nucleus;IDA|GO:0016607;nuclear speck;IDA|GO:0030425;dendrite;IEA|GO:0043204;perikaryon;IEA|GO:0070776;MOZ/MORF histone acetyltransferase complex;IDA GO:0008270;zinc ion binding;IEA|GO:0042393;histone binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/BRD1 https://www.uniprot.org/uniprot/O95696 https://www.ncbi.nlm.nih.gov/omim/?term=604589 http://www.informatics.jax.org/searchtool/Search.do?query=BRD1&submit=Quick%0D%2519ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BRD1 11_21.322_43.322 Chr11:11392976-25199292 1.269 BTBD10 ENSG00000148925 BTB domain containing 10 chr11:13409548-13484844 Tobacco Use Disorder GO:0042327;positive regulation of phosphorylation;ISS|GO:0044342;type B pancreatic cell proliferation;ISS|GO:1901215;negative regulation of neuron death;ISS GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/BTBD10 https://www.uniprot.org/uniprot/Q9BSF8 https://www.ncbi.nlm.nih.gov/omim/?term=615933 http://www.informatics.jax.org/searchtool/Search.do?query=BTBD10&submit=Quick%0D%9173ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTBD10 12_78.016_106.016 Chr12:64973018-92996828 1.299 BTG1 ENSG00000133639 BTG anti-proliferation factor 1 chr12:92536286-92539673 This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008] Multiple Sclerosis|Recurrence Mice homozygous for a knock-out allele exhibit abnormal neurogenesis in the dentate gyrus, decreased proliferation and increased apoptosis in the dentate gyrus and subventricular zone, impaired spatial learning and abnormal contextual conditioning behavior. GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006479;protein methylation;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007283;spermatogenesis;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016477;cell migration;NAS|GO:0030308;negative regulation of cell growth;NAS|GO:0043434;response to peptide hormone;IEA|GO:0045603;positive regulation of endothelial cell differentiation;IMP|GO:0045663;positive regulation of myoblast differentiation;NAS|GO:0045766;positive regulation of angiogenesis;IMP|GO:2000271;positive regulation of fibroblast apoptotic process;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IMP GO:0003712;transcription cofactor activity;NAS|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019900;kinase binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/BTG1 https://www.uniprot.org/uniprot/P62324 https://www.ncbi.nlm.nih.gov/omim/?term=109580 http://www.informatics.jax.org/searchtool/Search.do?query=BTG1&submit=Quick%0D%6852ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=BTG1 11_21.322_43.322 Chr11:11392976-25199292 1.269 C11orf58 ENSG00000110696 chromosome 11 open reading frame 58 chr11:16634679-16778428 GO:0008150;biological_process;ND GO:0005575;cellular_component;ND GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C11orf58 https://www.uniprot.org/uniprot/O00193 http://www.informatics.jax.org/searchtool/Search.do?query=C11orf58&submit=Quick%0D%3980ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C11orf58 12_78.016_106.016 Chr12:64973018-92996828 1.299 C12orf29 ENSG00000133641 chromosome 12 open reading frame 29 chr12:88427623-88443937 GO:0002244;hematopoietic progenitor cell differentiation;IEA http://www.genecards.org/index.php?path=/Search/keyword/C12orf29 https://www.uniprot.org/uniprot/Q8N999 http://www.informatics.jax.org/searchtool/Search.do?query=C12orf29&submit=Quick%0D%6854ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf29 12_78.016_106.016 Chr12:64973018-92996828 1.299 C12orf50 ENSG00000165805 chromosome 12 open reading frame 50 chr12:88373816-88427814 Coronary Artery Disease; Tobacco Use Disorder GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C12orf50 http://www.informatics.jax.org/searchtool/Search.do?query=C12orf50&submit=Quick%0D%11629ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C12orf50 16_101.974_110.974 Chr16:79461830-82833302 0.225 C16orf46 ENSG00000166455 chromosome 16 open reading frame 46 chr16:81087102-81110872 Attention deficit hyperactivity disorder and conduct disorder; smoking cessation; Tobacco Use Disorder; Body Weights and Measures GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA http://www.genecards.org/index.php?path=/Search/keyword/C16orf46 http://www.informatics.jax.org/searchtool/Search.do?query=C16orf46&submit=Quick%0D%11800ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C16orf46 19_20.212_38.212 Chr19:6565245-15124834 0.429 C19orf38 ENSG00000214212 chromosome 19 open reading frame 38 chr19:10947251-10980466 Eosinophils; Lipoproteins, LDL GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/C19orf38 http://www.informatics.jax.org/searchtool/Search.do?query=C19orf38&submit=Quick%0D%18222ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf38 19_20.212_38.212 Chr19:6565245-15124834 0.429 C19orf43 ENSG00000123144 telomerase RNA component interacting RNase chr19:12841454-12845589 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C19orf43 https://www.uniprot.org/uniprot/Q9BQ61 http://www.informatics.jax.org/searchtool/Search.do?query=C19orf43&submit=Quick%0D%5492ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf43 19_20.212_38.212 Chr19:6565245-15124834 0.429 C19orf53 ENSG00000104979 chromosome 19 open reading frame 53 chr19:13884982-13889276 GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA http://www.genecards.org/index.php?path=/Search/keyword/C19orf53 https://www.uniprot.org/uniprot/Q9UNZ5 http://www.informatics.jax.org/searchtool/Search.do?query=C19orf53&submit=Quick%0D%3221ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf53 19_20.212_38.212 Chr19:6565245-15124834 0.429 C19orf57 ENSG00000132016 chromosome 19 open reading frame 57 chr19:13993161-14017265 Stroke GO:0007275;multicellular organism development;NAS GO:0005575;cellular_component;ND GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C19orf57 https://www.uniprot.org/uniprot/Q0VDD7 http://www.informatics.jax.org/searchtool/Search.do?query=C19orf57&submit=Quick%0D%6619ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf57 19_20.212_38.212 Chr19:6565245-15124834 0.429 C19orf66 ENSG00000130813 chromosome 19 open reading frame 66 chr19:10196798-10203928 GO:0034340;response to type I interferon;IDA|GO:0034341;response to interferon-gamma;IDA|GO:0034342;response to type III interferon;IDA|GO:0045071;negative regulation of viral genome replication;IMP|GO:0051607;defense response to virus;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/C19orf66 https://www.uniprot.org/uniprot/Q9NUL5 https://www.ncbi.nlm.nih.gov/omim/?term=616808 http://www.informatics.jax.org/searchtool/Search.do?query=C19orf66&submit=Quick%0D%6451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf66 19_20.212_38.212 Chr19:6565245-15124834 0.429 C19orf67 ENSG00000188032 chromosome 19 open reading frame 67 chr19:14192431-14196687 http://www.genecards.org/index.php?path=/Search/keyword/C19orf67 http://www.informatics.jax.org/searchtool/Search.do?query=C19orf67&submit=Quick%0D%15950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C19orf67 20_50.701_78.701 Chr20:25016495-51804476 1.1 C20orf144 ENSG00000149609 chromosome 20 open reading frame 144 chr20:32250090-32253425 http://www.genecards.org/index.php?path=/Search/keyword/C20orf144 https://www.uniprot.org/uniprot/Q9BQM9 http://www.informatics.jax.org/searchtool/Search.do?query=C20orf144&submit=Quick%0D%9263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf144 20_50.701_78.701 Chr20:25016495-51804476 1.1 C20orf173 ENSG00000125975 chromosome 20 open reading frame 173 chr20:34111014-34117481 GO:0009311;oligosaccharide metabolic process;IBA|GO:0018279;protein N-linked glycosylation via asparagine;IBA|GO:0097503;sialylation;IEA GO:0047288;monosialoganglioside sialyltransferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/C20orf173 https://www.uniprot.org/uniprot/Q96LM9 http://www.informatics.jax.org/searchtool/Search.do?query=C20orf173&submit=Quick%0D%5893ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf173 20_50.701_78.701 Chr20:25016495-51804476 1.1 C20orf24 ENSG00000101084 chromosome 20 open reading frame 24 chr20:35234137-35240960 Acquired Immunodeficiency Syndrome|Disease Progression GO:0008150;biological_process;ND GO:0005575;cellular_component;ND GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/C20orf24 https://www.uniprot.org/uniprot/Q9BUV8 http://www.informatics.jax.org/searchtool/Search.do?query=C20orf24&submit=Quick%0D%2648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C20orf24 19_20.212_38.212 Chr19:6565245-15124834 0.429 C3 ENSG00000125730 complement C3 chr19:6677715-6730573 Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015] cirrhosis; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; Lymphoma, Non-Hodgkin; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; scar hypertrophy; Macular Degeneration; ovarian cancer; metabolic syndrome; Choroidal Neovascularization|Geographic Atrophy; respiratory syncytial virus bronchiolitis; Coronary Disease; age-related maculopathy; Type 2 Diabetes| edema | rosiglitazone; asthma; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; Erythema Nodosum|Sarcoidosis; Geographic Atrophy|Macular Degeneration; inflammatory bowel disease; Cholesterol; Recurrence|Venous Thromboembolism; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Alzheimer's disease ; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Coronary Artery Disease|Inflammation; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; systemic lupus erythematosus; kidney aging; Chlamydia Infections|Inflammation|Trachoma; macular degeneration; null; Inflammation|Venous Thromboembolism; Haemolytic-uraemic syndrome|Hemolytic-Uremic Syndrome; longevity; tuberculosis; Diseases in Twins|Macular Degeneration|Retinal Drusen; Macular Degeneration|Vision, Low; Lupus Erythematosus, Systemic; Asthma|Hypersensitivity; Migraine Disorders; Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity; benzene haematotoxicity; Meningeal Neoplasms|meningioma; Tobacco Use Disorder; Brain Ischemia|Inflammation|Stroke; Dermatitis, Atopic; Choroidal Neovascularization|Retinal Drusen|Wet Macular Degeneration; Hip; obstructive chronic bronchopneumopathie Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response. Regulation of Complement cascade GO:0001798;positive regulation of type IIa hypersensitivity;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0001970;positive regulation of activation of membrane attack complex;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0006956;complement activation;TAS|GO:0006957;complement activation, alternative pathway;TAS|GO:0006958;complement activation, classical pathway;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0010575;positive regulation of vascular endothelial growth factor production;IDA|GO:0010828;positive regulation of glucose transport;IDA|GO:0010866;regulation of triglyceride biosynthetic process;IDA|GO:0010884;positive regulation of lipid storage;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030449;regulation of complement activation;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045745;positive regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0045766;positive regulation of angiogenesis;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050776;regulation of immune response;TAS|GO:2000427;positive regulation of apoptotic cell clearance;IMP GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0034774;secretory granule lumen;TAS|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA GO:0004252;serine-type endopeptidase activity;TAS|GO:0004866;endopeptidase inhibitor activity;IEA|GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031715;C5L2 anaphylatoxin chemotactic receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/C3 https://www.uniprot.org/uniprot/P01024 https://hpo.jax.org/app/browse/search?q=C3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120700 http://www.informatics.jax.org/searchtool/Search.do?query=C3&submit=Quick%0D%5818ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=C3 16_129.974_134.474 Chr16:87933002-90108832 0.174 CA5A ENSG00000174990 carbonic anhydrase 5A chr16:87921625-87970135 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for a knock-out allele exhibit decreased body size, hyperammonemia, and increased levels of urinary metabolites. Reversible hydration of carbon dioxide GO:0006730;one-carbon metabolic process;IEA|GO:0015701;bicarbonate transport;TAS GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS GO:0004089;carbonate dehydratase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0016829;lyase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CA5A https://hpo.jax.org/app/browse/search?q=CA5A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114761 http://www.informatics.jax.org/searchtool/Search.do?query=CA5A&submit=Quick%0D%13617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CA5A 19_20.212_38.212 Chr19:6565245-15124834 0.429 CACNA1A ENSG00000141837 calcium voltage-gated channel subunit alpha1 A chr19:13317256-13734804 Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016] spinocerebellar ataxia type 6; epilepsy; Parkinson's disease ; Cerebellar Ataxia|; Parkinson's disease; episodic ataxia type 2; Spinocerebellar Ataxias; cluster headache; Tobacco Use Disorder; Ataxia; Migraine with Aura; cerebellar ataxia; Genomic Instability|Spinocerebellar Ataxias; Alzheimer's disease ; Migraine with Aura|Migraine without Aura; migraine; ataxia (SCA); spinocerebellar ataxia; restless legs syndrome; migraine, hemiplegic; schizophrenia; Hemiplegia|Migraine Disorders Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy. Regulation of insulin secretion GO:0001505;regulation of neurotransmitter levels;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007214;gamma-aminobutyric acid signaling pathway;IEA|GO:0007268;chemical synaptic transmission;IEA|GO:0007270;neuron-neuron synaptic transmission;IEA|GO:0007274;neuromuscular synaptic transmission;IEA|GO:0007416;synapse assembly;IEA|GO:0007628;adult walking behavior;IEA|GO:0008219;cell death;IDA|GO:0010817;regulation of hormone levels;IEA|GO:0014051;gamma-aminobutyric acid secretion;IEA|GO:0014056;regulation of acetylcholine secretion, neurotransmission;IEA|GO:0016049;cell growth;IEA|GO:0017156;calcium ion regulated exocytosis;IEA|GO:0017158;regulation of calcium ion-dependent exocytosis;IEA|GO:0019226;transmission of nerve impulse;IEA|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021590;cerebellum maturation;IEA|GO:0021679;cerebellar molecular layer development;IEA|GO:0021680;cerebellar Purkinje cell layer development;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0021750;vestibular nucleus development;IEA|GO:0021953;central nervous system neuron differentiation;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031335;regulation of sulfur amino acid metabolic process;IEA|GO:0032353;negative regulation of hormone biosynthetic process;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0042391;regulation of membrane potential;IEA|GO:0042593;glucose homeostasis;IEA|GO:0043113;receptor clustering;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0048265;response to pain;IEA|GO:0048266;behavioral response to pain;IEA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0050770;regulation of axonogenesis;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IEA|GO:0050883;musculoskeletal movement, spinal reflex action;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0050905;neuromuscular process;IEA|GO:0051899;membrane depolarization;TAS|GO:0055085;transmembrane transport;IEA|GO:0060024;rhythmic synaptic transmission;IEA|GO:0070588;calcium ion transmembrane transport;IDA|GO:0086010;membrane depolarization during action potential;IBA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005891;voltage-gated calcium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IDA|GO:0043025;neuronal cell body;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005245;voltage-gated calcium channel activity;TAS|GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0008331;high voltage-gated calcium channel activity;IDA|GO:0019905;syntaxin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CACNA1A https://www.uniprot.org/uniprot/O00555 https://hpo.jax.org/app/browse/search?q=CACNA1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601011 http://www.informatics.jax.org/searchtool/Search.do?query=CACNA1A&submit=Quick%0D%8225ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CACNA1A 11_21.322_43.322 Chr11:11392976-25199292 1.269 CALCA ENSG00000110680 calcitonin related polypeptide alpha chr11:14988214-14993900 This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator and as an antimicrobial peptide while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2014] bone density; bone responsiveness; bone density osteocalcin; bone density; Parkinson's disease; schizophrenia; depression, manic; Bone Mineral Density; osteoarthritis; ovarian cancer; bone mineral density; Postoperative Complications|Prosthesis Failure; hypertension; Type 2 Diabetes| edema | rosiglitazone; osteoporosis; Hypertension; Migraine Disorders; Multiple Organ Failure|Multiple Trauma|Respiratory Distress Syndrome, Adult|Sepsis|Shock, Septic|Systemic Inflammatory Response Syndrome; several psychiatric disorders; Pain, Postoperative|Radius Fractures|Reflex Sympathetic Dystrophy Two separate peptides, calcitonin and calcitonin gene related peptide-alpha (CGRP-alpha), are derived from this locus by alternative splicing. Mice homozygous null for CGRP-alpha have changes in the vascular and nervous system. Mice lacking calcitonin have increased bone mineralization. Amyloid fiber formation GO:0001935;endothelial cell proliferation;IDA|GO:0001944;vasculature development;IDA|GO:0001984;artery vasodilation involved in baroreceptor response to increased systemic arterial blood pressure;IEA|GO:0002027;regulation of heart rate;IEA|GO:0002031;G-protein coupled receptor internalization;IDA|GO:0002548;monocyte chemotaxis;IDA|GO:0006468;protein phosphorylation;IDA|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0006954;inflammatory response;IEA|GO:0007159;leukocyte cell-cell adhesion;IDA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007190;activation of adenylate cyclase activity;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0007218;neuropeptide signaling pathway;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007566;embryo implantation;IDA|GO:0007568;aging;IEA|GO:0007631;feeding behavior;IEA|GO:0008016;regulation of heart contraction;IEA|GO:0008217;regulation of blood pressure;NAS|GO:0009408;response to heat;IEA|GO:0010523;negative regulation of calcium ion transport into cytosol;IDA|GO:0030279;negative regulation of ossification;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031623;receptor internalization;IDA|GO:0031645;negative regulation of neurological system process;IEA|GO:0032147;activation of protein kinase activity;IDA|GO:0032730;positive regulation of interleukin-1 alpha production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0042311;vasodilation;IEA|GO:0043542;endothelial cell migration;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0045651;positive regulation of macrophage differentiation;IDA|GO:0045671;negative regulation of osteoclast differentiation;IDA|GO:0045762;positive regulation of adenylate cyclase activity;IDA|GO:0045776;negative regulation of blood pressure;IEA|GO:0045778;positive regulation of ossification;IEA|GO:0045779;negative regulation of bone resorption;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045986;negative regulation of smooth muscle contraction;IEA|GO:0048265;response to pain;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0051480;regulation of cytosolic calcium ion concentration;IDA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IDA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0097755;positive regulation of blood vessel diameter;IDA|GO:1990090;cellular response to nerve growth factor stimulus;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0030424;axon;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043195;terminal bouton;IEA GO:0005102;receptor binding;IDA|GO:0005179;hormone activity;IEA|GO:0005515;protein binding;IPI|GO:0031716;calcitonin receptor binding;IPI|GO:0032403;protein complex binding;IDA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CALCA https://www.uniprot.org/uniprot/P01258 https://www.ncbi.nlm.nih.gov/omim/?term=114130 http://www.informatics.jax.org/searchtool/Search.do?query=CALCA&submit=Quick%0D%3978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CALCA 11_21.322_43.322 Chr11:11392976-25199292 1.269 CALCB ENSG00000175868 calcitonin related polypeptide beta chr11:14926543-15103888 several psychiatric disorders Two separate peptides, calcitonin and calcitonin gene related peptide-alpha (CGRP-alpha), are derived from this locus by alternative splicing. Mice homozygous null for CGRP-alpha have changes in the vascular and nervous system. Mice lacking calcitonin have increased bone mineralization. Calcitonin-like ligand receptors GO:0006874;cellular calcium ion homeostasis;TAS|GO:0007165;signal transduction;TAS GO:0005576;extracellular region;IEA|GO:0005623;cell;IEA GO:0005179;hormone activity;IEA|GO:0005184;neuropeptide hormone activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CALCB https://www.ncbi.nlm.nih.gov/omim/?term=114160 http://www.informatics.jax.org/searchtool/Search.do?query=CALCB&submit=Quick%0D%13765ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CALCB 19_20.212_38.212 Chr19:6565245-15124834 0.429 CALR ENSG00000179218 calreticulin chr19:13049392-13055303 Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Homozygotes for targeted null mutations exhibit decreased cardiac cell mass, increased apoptosis of cardiac myocytes, neural tube defects (sometimes associated with exencephaly), omphalocele, and mid- to late-gestational lethality. Antigen Presentation: Folding, assembly and peptide loading of class I MHC GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0002474;antigen processing and presentation of peptide antigen via MHC class I;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0002502;peptide antigen assembly with MHC class I protein complex;ISS|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006457;protein folding;TAS|GO:0006611;protein export from nucleus;IDA|GO:0006874;cellular calcium ion homeostasis;TAS|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007283;spermatogenesis;IEA|GO:0008284;positive regulation of cell proliferation;IGI|GO:0010033;response to organic substance;IEA|GO:0010595;positive regulation of endothelial cell migration;IMP|GO:0010628;positive regulation of gene expression;IEA|GO:0017148;negative regulation of translation;IDA|GO:0022417;protein maturation by protein folding;TAS|GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0032355;response to estradiol;IEA|GO:0033144;negative regulation of intracellular steroid hormone receptor signaling pathway;IDA|GO:0033574;response to testosterone;IEA|GO:0034504;protein localization to nucleus;IDA|GO:0034975;protein folding in endoplasmic reticulum;TAS|GO:0036500;ATF6-mediated unfolded protein response;TAS|GO:0040020;regulation of meiotic nuclear division;IEA|GO:0042493;response to drug;IEA|GO:0042921;glucocorticoid receptor signaling pathway;TAS|GO:0042981;regulation of apoptotic process;TAS|GO:0045665;negative regulation of neuron differentiation;IDA|GO:0045740;positive regulation of DNA replication;IGI|GO:0045787;positive regulation of cell cycle;IGI|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048387;negative regulation of retinoic acid receptor signaling pathway;IDA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050821;protein stabilization;TAS|GO:0051208;sequestering of calcium ion;TAS|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0061077;chaperone-mediated protein folding;IEA|GO:0071157;negative regulation of cell cycle arrest;IGI|GO:0071285;cellular response to lithium ion;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0090398;cellular senescence;IGI|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP|GO:1901164;negative regulation of trophoblast cell migration;IMP|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IEA|GO:1990668;vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane;TAS|GO:2000510;positive regulation of dendritic cell chemotaxis;IMP GO:0001669;acrosomal vesicle;IEA|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IMP|GO:0005622;intracellular;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005790;smooth endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0005844;polysome;IDA|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;TAS|GO:0016020;membrane;IDA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0031012;extracellular matrix;IEA|GO:0033018;sarcoplasmic reticulum lumen;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;TAS|GO:0042824;MHC class I peptide loading complex;ISS|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0071556;integral component of lumenal side of endoplasmic reticulum membrane;TAS|GO:0071682;endocytic vesicle lumen;TAS GO:0001849;complement component C1q binding;TAS|GO:0001948;glycoprotein binding;IPI|GO:0003677;DNA binding;NAS|GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IDA|GO:0005178;integrin binding;IPI|GO:0005506;iron ion binding;IEA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;TAS|GO:0030246;carbohydrate binding;TAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042277;peptide binding;IEA|GO:0042562;hormone binding;IEA|GO:0044183;protein binding involved in protein folding;TAS|GO:0046872;metal ion binding;IEA|GO:0050681;androgen receptor binding;IDA|GO:0051082;unfolded protein binding;TAS|GO:0051087;chaperone binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/CALR https://hpo.jax.org/app/browse/search?q=CALR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=109091 http://www.informatics.jax.org/searchtool/Search.do?query=CALR&submit=Quick%0D%14310ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CALR 19_20.212_38.212 Chr19:6565245-15124834 0.429 CAMSAP3 ENSG00000076826 calmodulin regulated spectrin associated protein family member 3 chr19:7660788-7683190 Mice homozygous for a null allele display variable penetrance of vascular, liver, nervous system, rib and eye abnormalities. Mice homozygous for an allele with loss of microtubule binding show partial lethality, decreased body size and abnormal alignment of microtubles in polarized epithelial cells. GO:0000226;microtubule cytoskeleton organization;IMP|GO:0010923;negative regulation of phosphatase activity;IDA|GO:0031175;neuron projection development;IEA|GO:0033043;regulation of organelle organization;IMP|GO:0034453;microtubule anchoring;IMP|GO:0045218;zonula adherens maintenance;IMP|GO:0070507;regulation of microtubule cytoskeleton organization;IMP|GO:0090136;epithelial cell-cell adhesion;IMP GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0030054;cell junction;IEA GO:0005516;calmodulin binding;IEA|GO:0008017;microtubule binding;IEA|GO:0030507;spectrin binding;IEA|GO:0051011;microtubule minus-end binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CAMSAP3 https://www.uniprot.org/uniprot/Q9P1Y5 https://www.ncbi.nlm.nih.gov/omim/?term=612685 http://www.informatics.jax.org/searchtool/Search.do?query=CAMSAP3&submit=Quick%0D%1596ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAMSAP3 12_78.016_106.016 Chr12:64973018-92996828 1.299 CAND1 ENSG00000111530 cullin associated and neddylation dissociated 1 chr12:67663061-67713731 This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Body Weight; Tunica Media; Osteoporosis; Body Fat Distribution; hippocampal atrophy; Cholesterol; Echocardiography Iron uptake and transport GO:0006879;cellular iron ion homeostasis;TAS|GO:0010265;SCF complex assembly;IDA|GO:0016567;protein ubiquitination;IDA|GO:0030154;cell differentiation;IDA|GO:0043086;negative regulation of catalytic activity;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0043687;post-translational protein modification;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045899;positive regulation of RNA polymerase II transcriptional preinitiation complex assembly;IEA GO:0000151;ubiquitin ligase complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031461;cullin-RING ubiquitin ligase complex;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0005515;protein binding;IPI|GO:0017025;TBP-class protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CAND1 https://www.uniprot.org/uniprot/Q86VP6 https://www.ncbi.nlm.nih.gov/omim/?term=607727 http://www.informatics.jax.org/searchtool/Search.do?query=CAND1&submit=Quick%0D%4084ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAND1 12_78.016_106.016 Chr12:64973018-92996828 1.299 CAPS2 ENSG00000180881 calcyphosine 2 chr12:75669759-75784708 Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008] GO:0035725;sodium ion transmembrane transport;IEA|GO:0055074;calcium ion homeostasis;IBA GO:0005432;calcium:sodium antiporter activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CAPS2 https://www.ncbi.nlm.nih.gov/omim/?term=607724 http://www.informatics.jax.org/searchtool/Search.do?query=CAPS2&submit=Quick%0D%14541ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPS2 19_20.212_38.212 Chr19:6565245-15124834 0.429 CARM1 ENSG00000142453 coactivator associated arginine methyltransferase 1 chr19:10982189-11033453 This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts specifically on histones and other chromatin-associated proteins and is involved in regulation of gene expression. The enzyme may act in association with other proteins or within multi-protein complexes and may play a role in cell type-specific functions and cell lineage specification. A related pseudogene is located on chromosome 9. [provided by RefSeq, Aug 2013] Spinal Dysraphism; Eosinophils; plasma HDL cholesterol (HDL-C) levels; Lipoproteins, LDL; breast cancer Homozygous null fetuses are small and die perinatally, whereas heterozygotes are born at the expected Mendelian ratio but show decreased survival through weaning. Mice homozygous for a kinase null allele exhibit neonatal lethality, arrested T cell development, and impaired adipogenesis. RUNX3 regulates YAP1-mediated transcription GO:0003420;regulation of growth plate cartilage chondrocyte proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006479;protein methylation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007568;aging;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016571;histone methylation;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0019919;peptidyl-arginine methylation, to asymmetrical-dimethyl arginine;IEA|GO:0030518;intracellular steroid hormone receptor signaling pathway;IEA|GO:0030520;intracellular estrogen receptor signaling pathway;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0032259;methylation;IEA|GO:0033146;regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0034969;histone arginine methylation;IEA|GO:0034970;histone H3-R2 methylation;IMP|GO:0034971;histone H3-R17 methylation;IEA|GO:0035246;peptidyl-arginine N-methylation;IEA|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051591;response to cAMP;IEA|GO:0060350;endochondral bone morphogenesis;IEA|GO:0071168;protein localization to chromatin;IEA|GO:1902415;regulation of mRNA binding;IEA|GO:2000171;negative regulation of dendrite development;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0043234;protein complex;IEA|GO:0090575;RNA polymerase II transcription factor complex;IEA GO:0001105;RNA polymerase II transcription coactivator activity;IEA|GO:0003713;transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;TAS|GO:0008168;methyltransferase activity;IEA|GO:0008276;protein methyltransferase activity;IEA|GO:0008469;histone-arginine N-methyltransferase activity;IDA|GO:0016274;protein-arginine N-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IEA|GO:0035242;protein-arginine omega-N asymmetric methyltransferase activity;IEA|GO:0035642;histone methyltransferase activity (H3-R17 specific);IEA|GO:0042054;histone methyltransferase activity;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0070577;lysine-acetylated histone binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CARM1 https://www.uniprot.org/uniprot/Q86X55 https://www.ncbi.nlm.nih.gov/omim/?term=603934 http://www.informatics.jax.org/searchtool/Search.do?query=CARM1&submit=Quick%0D%8284ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CARM1 20_50.701_78.701 Chr20:25016495-51804476 1.1 CBFA2T2 ENSG00000078699 CBFA2/RUNX1 translocation partner 2 chr20:32077881-32237842 In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008] Homozygotes for a null allele are smaller and show reduced numbers of intestinal goblet, Paneth and enteroendocrine cells, small intestine inflammation, and strain dependent postnatal lethality. Homozygotes for a different null allele are infertile due to defects in primordial germ cell maturation. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0010977;negative regulation of neuron projection development;ISS|GO:0030855;epithelial cell differentiation;IEA|GO:0045746;negative regulation of Notch signaling pathway;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0060575;intestinal epithelial cell differentiation;IEA GO:0005634;nucleus;IDA GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CBFA2T2 https://www.uniprot.org/uniprot/O43439 https://www.ncbi.nlm.nih.gov/omim/?term=603672 http://www.informatics.jax.org/searchtool/Search.do?query=CBFA2T2&submit=Quick%0D%1672ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CBFA2T2 16_129.974_134.474 Chr16:87933002-90108832 0.174 CBFA2T3 ENSG00000129993 CBFA2/RUNX1 translocation partner 3 chr16:88941266-89043612 This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] Glucose Mice that are homozygote null for this gene display skewing of the early myeloid progenitor cells toward the granulocytic/macrophage lineage while reducing the numbers of megakaryocyte-erythroid progenitor cells. GO:0001666;response to hypoxia;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008283;cell proliferation;TAS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0030154;cell differentiation;IEA|GO:0030851;granulocyte differentiation;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0045820;negative regulation of glycolytic process;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:1903715;regulation of aerobic respiration;IDA GO:0000139;Golgi membrane;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CBFA2T3 https://www.uniprot.org/uniprot/O75081 https://www.ncbi.nlm.nih.gov/omim/?term=603870 http://www.informatics.jax.org/searchtool/Search.do?query=CBFA2T3&submit=Quick%0D%6302ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CBFA2T3 19_20.212_38.212 Chr19:6565245-15124834 0.429 CC2D1A ENSG00000132024 coiled-coil and C2 domain containing 1A chr19:14017014-14041692 This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009] Macular Degeneration Mice homozygous for a knock-out allele exhibit partial neonatal lethality, reduced body weight, hunched posture, respiratory distress, increased sensitivity of neurons to hydrogen peroxide, reduced dendrite length, abnormal brain vasculature and reduced synaptic number and density. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007165;signal transduction;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0004871;signal transducer activity;IMP|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CC2D1A https://www.uniprot.org/uniprot/Q6P1N0 https://hpo.jax.org/app/browse/search?q=CC2D1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610055 http://www.informatics.jax.org/searchtool/Search.do?query=CC2D1A&submit=Quick%0D%6621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CC2D1A 19_20.212_38.212 Chr19:6565245-15124834 0.429 CCDC105 ENSG00000160994 coiled-coil domain containing 105 chr19:15121556-15134081 benzene haematotoxicity; Blood Pressure GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCDC105 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC105&submit=Quick%0D%10544ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC105 19_20.212_38.212 Chr19:6565245-15124834 0.429 CCDC130 ENSG00000104957 coiled-coil domain containing 130 chr19:13842574-13874110 GO:0009615;response to virus;IEP GO:0005575;cellular_component;ND GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC130 https://www.uniprot.org/uniprot/P13994 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC130&submit=Quick%0D%3211ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC130 19_20.212_38.212 Chr19:6565245-15124834 0.429 CCDC151 ENSG00000198003 coiled-coil domain containing 151 chr19:11531272-11546603 This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] Primary cillary dyskineasia Mico homozygous for an ENU-induced allele exhibit dextrocardia associated with situs inversus totalis and hypoplastic spleen, adrenal anomalies and immotile/dyskinetic tracheal airway cilia. Mice homozygous for a conditional allele activated ubiquitously in adults exhibit reduced sperm number and motility. GO:0003341;cilium movement;IMP|GO:0007368;determination of left/right symmetry;IMP|GO:0030030;cell projection organization;IEA|GO:0036158;outer dynein arm assembly;IDA|GO:0070286;axonemal dynein complex assembly;IEA|GO:1902017;regulation of cilium assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005814;centriole;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IDA|GO:0036064;ciliary basal body;ISS|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC151 https://hpo.jax.org/app/browse/search?q=CCDC151&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=615956 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC151&submit=Quick%0D%16783ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC151 19_20.212_38.212 Chr19:6565245-15124834 0.429 CCDC159 ENSG00000183401 coiled-coil domain containing 159 chr19:11455360-11465620 http://www.genecards.org/index.php?path=/Search/keyword/CCDC159 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC159&submit=Quick%0D%14985ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC159 11_21.322_43.322 Chr11:11392976-25199292 1.269 CCDC179 ENSG00000255359 coiled-coil domain containing 179 chr11:22868477-22881972 http://www.genecards.org/index.php?path=/Search/keyword/CCDC179 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC179&submit=Quick%0D%20129ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC179 12_78.016_106.016 Chr12:64973018-92996828 1.299 CCDC59 ENSG00000133773 coiled-coil domain containing 59 chr12:82617460-82752584 Sodium Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS) GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0044267;cellular protein metabolic process;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCDC59 https://www.uniprot.org/uniprot/Q9P031 http://www.informatics.jax.org/searchtool/Search.do?query=CCDC59&submit=Quick%0D%6868ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC59 12_78.016_106.016 Chr12:64973018-92996828 1.299 CCER1 ENSG00000197651 coiled-coil glutamate rich protein 1 chr12:91299399-91348953 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CCER1 http://www.informatics.jax.org/searchtool/Search.do?query=CCER1&submit=Quick%0D%16686ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCER1 19_20.212_38.212 Chr19:6565245-15124834 0.429 CCL25 ENSG00000131142 C-C motif chemokine ligand 25 chr19:8117651-8127534 This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] Hyperparathyroidism, Secondary; respiratory syncytial virus bronchiolitis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections Mice homozygous for a knock-out allele exhibit impaired accumulation of antigen-specific CD8+ T lymphocytes within both lamina propria and epithelium of the small intestine. G alpha (i) signalling events GO:0001954;positive regulation of cell-matrix adhesion;IDA|GO:0002548;monocyte chemotaxis;IBA|GO:0006935;chemotaxis;TAS|GO:0006954;inflammatory response;IEA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0030593;neutrophil chemotaxis;IBA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0048247;lymphocyte chemotaxis;IBA|GO:0050900;leukocyte migration;IEA|GO:0060326;cell chemotaxis;IDA|GO:0070098;chemokine-mediated signaling pathway;IBA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IBA|GO:0071346;cellular response to interferon-gamma;IBA|GO:0071347;cellular response to interleukin-1;IBA|GO:0071356;cellular response to tumor necrosis factor;IBA|GO:1903237;negative regulation of leukocyte tethering or rolling;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA GO:0005125;cytokine activity;IEA|GO:0005179;hormone activity;TAS|GO:0008009;chemokine activity;IDA|GO:0031735;CCR10 chemokine receptor binding;IDA|GO:0042379;chemokine receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CCL25 https://www.uniprot.org/uniprot/O15444 https://www.ncbi.nlm.nih.gov/omim/?term=602565 http://www.informatics.jax.org/searchtool/Search.do?query=CCL25&submit=Quick%0D%6502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCL25 20_50.701_78.701 Chr20:25016495-51804476 1.1 CCM2L ENSG00000101331 CCM2 like scaffolding protein chr20:30598245-30619984 Mice homozygous for a reporter allele exhibit delayed wound healing and show impaired tumor growth, poor tumor vascularization, and decreased metastatic potential following injection of Lewis Lung Carcinoma (LLC) cells. GO:0003209;cardiac atrium morphogenesis;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0008150;biological_process;ND|GO:0032091;negative regulation of protein binding;IEA|GO:0034111;negative regulation of homotypic cell-cell adhesion;IEA|GO:0042060;wound healing;IEA|GO:0055017;cardiac muscle tissue growth;IEA|GO:0090271;positive regulation of fibroblast growth factor production;IEA GO:0005575;cellular_component;ND GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/CCM2L https://www.uniprot.org/uniprot/Q9NUG4 http://www.informatics.jax.org/searchtool/Search.do?query=CCM2L&submit=Quick%0D%2709ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCM2L 12_78.016_106.016 Chr12:64973018-92996828 1.299 CCT2 ENSG00000166226 chaperonin containing TCP1 subunit 2 chr12:69979114-69995350 The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; height; Creatinine; hypertension Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding GO:0006457;protein folding;TAS|GO:0007339;binding of sperm to zona pellucida;IEA|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0050821;protein stabilization;IMP|GO:0051086;chaperone mediated protein folding independent of cofactor;IMP|GO:0051131;chaperone-mediated protein complex assembly;IMP|GO:0051973;positive regulation of telomerase activity;IMP|GO:0090666;scaRNA localization to Cajal body;IMP|GO:1901998;toxin transport;IEA|GO:1904851;positive regulation of establishment of protein localization to telomere;IMP|GO:1904871;positive regulation of protein localization to Cajal body;IMP|GO:1904874;positive regulation of telomerase RNA localization to Cajal body;IMP GO:0002199;zona pellucida receptor complex;IEA|GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005832;chaperonin-containing T-complex;IDA|GO:0005874;microtubule;IDA|GO:0031012;extracellular matrix;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0043209;myelin sheath;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0044183;protein binding involved in protein folding;IPI|GO:0051082;unfolded protein binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/CCT2 https://www.ncbi.nlm.nih.gov/omim/?term=605139 http://www.informatics.jax.org/searchtool/Search.do?query=CCT2&submit=Quick%0D%11734ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CCT2 19_20.212_38.212 Chr19:6565245-15124834 0.429 CD209 ENSG00000090659 CD209 molecule chr19:7804879-7812464 This gene encodes a transmembrane receptor and is often referred to as DC-SIGN because of its expression on the surface of dendritic cells and macrophages. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are rare but have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 10332; often referred to as L-SIGN). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009] Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease; respiratory syncytial virus bronchiolitis; celiac disease; HIV Infections|Tuberculosis; HTLV-I Infections; Lymphadenitis|Mycobacterium Infections|Periodontitis; HIV Infections|[X]Human immunodeficiency virus disease; leprosy; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Nasopharyngeal Neoplasms; dengue disease; Hepatitis C|Remission, Spontaneous; Cytomegalovirus Infections; Dengue Hemorrhagic Fever; Hepatitis C, Chronic|Liver Cirrhosis|Liver Diseases; HIV; Dermatitis, Atopic|Eczema allergic; Arthritis, Rheumatoid|; HIV Infections; tuberculosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; null; Severe Acute Respiratory Syndrome; Tuberculosis; HIV Infections|Sexually Transmitted Diseases; Meningeal Neoplasms|meningioma; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Tuberculosis, Pulmonary Mice homozygous for a knock-out allele exhibit normal susceptibility to bacterial infection despite altered lymphocyte numbers and increased inflammatory response.. Butyrophilin (BTN) family interactions GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006897;endocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;TAS|GO:0007159;leukocyte cell-cell adhesion;NAS|GO:0009988;cell-cell recognition;TAS|GO:0016032;viral process;IEA|GO:0019048;modulation by virus of host morphology or physiology;TAS|GO:0019062;virion attachment to host cell;TAS|GO:0019079;viral genome replication;NAS|GO:0019882;antigen processing and presentation;NAS|GO:0035556;intracellular signal transduction;NAS|GO:0042129;regulation of T cell proliferation;IDA|GO:0045087;innate immune response;IEA|GO:0046718;viral entry into host cell;IEA|GO:0046968;peptide antigen transport;NAS|GO:0075733;intracellular transport of virus;TAS GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;NAS|GO:0005886;plasma membrane;TAS|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0005537;mannose binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0042605;peptide antigen binding;NAS|GO:0046790;virion binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CD209 https://www.uniprot.org/uniprot/Q9NNX6 https://www.ncbi.nlm.nih.gov/omim/?term=604672 http://www.informatics.jax.org/searchtool/Search.do?query=CD209&submit=Quick%0D%2114ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD209 19_20.212_38.212 Chr19:6565245-15124834 0.429 CD320 ENSG00000167775 CD320 molecule chr19:8367011-8373240 This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011] Neural Tube Defects The homozygous mutant and heterozygous mice exhibited an increased mean retinal artery-to-vein ratio when compared with controls. Mice homozygous for a gene trap knock-out allele exhibit vitamin B12 deficiency in the central nervous system. Defective CD320 causes methylmalonic aciduria GO:0009235;cobalamin metabolic process;TAS|GO:0015889;cobalamin transport;IMP|GO:0030656;regulation of vitamin metabolic process;IEA|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0031296;B cell costimulation;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0015235;cobalamin transporter activity;TAS|GO:0031419;cobalamin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CD320 https://hpo.jax.org/app/browse/search?q=CD320&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606475 http://www.informatics.jax.org/searchtool/Search.do?query=CD320&submit=Quick%0D%12114ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD320 20_50.701_78.701 Chr20:25016495-51804476 1.1 CD40 ENSG00000101017 CD40 molecule chr20:44746911-44758502 This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014] Multiple Sclerosis; antibiotic-induced cutaneous allergic reactions; Hodgkin Disease|Lymphoma, Non-Hodgkin; Pemphigus; kawasaki disease; Multiple Myeloma; Autoimmune Diseases|Endometriosis; rheumatoid arthritis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; atherosclerosis; acute coronary syndrome diabetes, type 2 hypertension; respiratory syncytial virus bronchiolitis; Acute Coronary Syndrome|; bladder cancer; hepatitis B; Graves Disease; asthma IgE; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Type 2 Diabetes| edema | rosiglitazone; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; multiple sclerosis; benzene haematotoxicity; Acute Coronary Syndrome|Atherosclerosis|Coronary Disease|Coronary heart disease; Type 2 diabetes; Giant Cell Arteritis|Ischemia|Temporal Arteritis; null; Apoplexy|Brain Ischemia|Stroke; Mucocutaneous Lymph Node Syndrome; Graves' disease; Arthritis, Rheumatoid; Chronic Obstructive Pulmonary Disease; lung cancer; atherosclerosis, coronary; Pulmonary Disease, Chronic Obstructive; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Acute Coronary Syndrome|Coronary Artery Disease|Rupture, Spontaneous; Arthritis, Rheumatoid|Rheumatoid Arthritis; Graves Disease|Graves' Disease; Graves' disease; Hashimoto's thyroiditis; autoimmune thyroiditis Graves' disease Hashimoto's thyroiditis; Graves' disease myasthenia gravis; lung cancer ; Lymphoma, Non-Hodgkin; Chronic renal failure|Kidney Failure, Chronic; Wegener's granulomatosis; Asthma|; Arthritis, Rheumatoid|; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; chronic obstructive pulmonary disease; Lymphoma, Follicular; tuberculosis; Arthritis, Juvenile Rheumatoid|Arthritis, Rheumatoid|Chronic Childhood Arthritis|Rheumatoid Arthritis; diabetes, type 1 ; acute coronary syndrome; Graves Disease|Graves' Disease|Recurrence Homozygous inactivation of this gene may cause impaired immunoglobulin class switching and germinal center formation, reduced susceptibility to type II hypersensitivity reaction, impaired priming of T cells and control of M. tuberculosis infection, and altered response to transplant. TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002376;immune system process;IEA|GO:0002768;immune response-regulating cell surface receptor signaling pathway;IEA|GO:0006461;protein complex assembly;TAS|GO:0006874;cellular calcium ion homeostasis;IMP|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;IBA|GO:0007275;multicellular organism development;IBA|GO:0009617;response to bacterium;IEA|GO:0030168;platelet activation;NAS|GO:0030890;positive regulation of B cell proliferation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032496;response to lipopolysaccharide;IBA|GO:0032735;positive regulation of interleukin-12 production;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0033590;response to cobalamin;IEA|GO:0034341;response to interferon-gamma;IEA|GO:0036018;cellular response to erythropoietin;IEA|GO:0042100;B cell proliferation;NAS|GO:0042113;B cell activation;IEA|GO:0042127;regulation of cell proliferation;IBA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IMP|GO:0042832;defense response to protozoan;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEP|GO:0043406;positive regulation of MAP kinase activity;IMP|GO:0043491;protein kinase B signaling;IEA|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048304;positive regulation of isotype switching to IgG isotypes;IEA|GO:0050776;regulation of immune response;TAS|GO:0051023;regulation of immunoglobulin secretion;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0051607;defense response to virus;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071260;cellular response to mechanical stimulus;IEP|GO:0071347;cellular response to interleukin-1;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0090037;positive regulation of protein kinase C signaling;IMP|GO:0097190;apoptotic signaling pathway;IBA|GO:1901652;response to peptide;IEA|GO:2000353;positive regulation of endothelial cell apoptotic process;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035631;CD40 receptor complex;ISS|GO:0043025;neuronal cell body;IEA|GO:0043196;varicosity;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070062;extracellular exosome;IDA GO:0003823;antigen binding;IEA|GO:0004871;signal transducer activity;TAS|GO:0004872;receptor activity;TAS|GO:0005031;tumor necrosis factor-activated receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CD40 https://www.uniprot.org/uniprot/P25942 https://hpo.jax.org/app/browse/search?q=CD40&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=109535 http://www.informatics.jax.org/searchtool/Search.do?query=CD40&submit=Quick%0D%2639ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD40 19_20.212_38.212 Chr19:6565245-15124834 0.429 CD70 ENSG00000125726 CD70 molecule chr19:6583194-6604114 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [provided by RefSeq, Jul 2008] Multiple Myeloma; Waldenstrom macroglobulinaemia; chronic lymphocytic leukaemia; ovarian cancer; benzene haematotoxicity; null Expansion of CD8+ cells after viral expansion is significantly less in mice with a homozygous deletion than in controls. However, the restimulation response is comparable to controls. TNFs bind their physiological receptors GO:0006955;immune response;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0008283;cell proliferation;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IDA GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0002020;protease binding;IPI|GO:0005102;receptor binding;TAS|GO:0005125;cytokine activity;IEA|GO:0005164;tumor necrosis factor receptor binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CD70 https://www.uniprot.org/uniprot/P32970 https://hpo.jax.org/app/browse/search?q=CD70&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602840 http://www.informatics.jax.org/searchtool/Search.do?query=CD70&submit=Quick%0D%5817ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CD70 19_20.212_38.212 Chr19:6565245-15124834 0.429 CDC37 ENSG00000105401 cell division cycle 37 chr19:10501810-10530797 The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [provided by RefSeq, Jul 2008] Downregulation of ERBB2 signaling GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0006457;protein folding;IBA|GO:0006605;protein targeting;TAS|GO:0010608;posttranscriptional regulation of gene expression;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0038128;ERBB2 signaling pathway;TAS|GO:0045859;regulation of protein kinase activity;IEA|GO:0050821;protein stabilization;IBA|GO:0051301;cell division;IEA|GO:0060334;regulation of interferon-gamma-mediated signaling pathway;IMP|GO:0060338;regulation of type I interferon-mediated signaling pathway;IMP|GO:0098779;positive regulation of macromitophagy in response to mitochondrial depolarization;IEA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA|GO:1990565;HSP90-CDC37 chaperone complex;IEA GO:0004713;protein tyrosine kinase activity;EXP|GO:0005515;protein binding;IPI|GO:0019887;protein kinase regulator activity;IEA|GO:0019900;kinase binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0031072;heat shock protein binding;IPI|GO:0051082;unfolded protein binding;TAS|GO:0051087;chaperone binding;IBA|GO:0051879;Hsp90 protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDC37 https://www.uniprot.org/uniprot/Q16543 https://www.ncbi.nlm.nih.gov/omim/?term=605065 http://www.informatics.jax.org/searchtool/Search.do?query=CDC37&submit=Quick%0D%3298ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC37 2_187.744_190.744 Chr2:174108399-175872495 0.223 CDCA7 ENSG00000144354 cell division cycle associated 7 chr2:174219548-174233725 This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Macular Degeneration; Body Mass Index; Amyotrophic Lateral Sclerosis; Tunica Media; Waist Circumference; Hemoglobins GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0042127;regulation of cell proliferation;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDCA7 https://www.uniprot.org/uniprot/Q9BWT1 https://hpo.jax.org/app/browse/search?q=CDCA7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609937 http://www.informatics.jax.org/searchtool/Search.do?query=CDCA7&submit=Quick%0D%8595ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDCA7 16_101.974_110.974 Chr16:79461830-82833302 0.225 CDH13 ENSG00000140945 cadherin 13 chr16:82660408-83830204 This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] Electrocardiography; Arthritis, Rheumatoid|Rheumatoid Arthritis; Tuberculosis; response to antipsychotic treatment; Alcoholism; Metabolic Syndrome X; Coronary Artery Disease|Diabetes Mellitus, Type 1|Diabetic Nephropathies; Blood Pressure; Myocardial Infarction; smoking cessation; Tunica Media; Blood pressure; Basophils; Clozapine; Depression; Hypertension; autism; Schizophrenia; Adult ADHD | attention deficit hyperactivity disorder; Calcium-Binding Proteins; Heart Failure; hypertension; Coronary Disease; Respiratory Function Tests; Attention Deficit Disorder with Hyperactivity; Coronary Artery Disease; Alcohol Withdrawal Delirium|Alcoholism; Waist Circumference; Body Weights and Measures; Body Height; Hippocampus; Tobacco Use Disorder; personality; Potassium; Forced Expiratory Volume; Adiponectin; ADHD | attention-deficit hyperactivity disorder; height; ADHD Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. Adherens junctions interactions GO:0000278;mitotic cell cycle;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0001954;positive regulation of cell-matrix adhesion;IMP|GO:0002040;sprouting angiogenesis;IDA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007266;Rho protein signal transduction;IMP|GO:0008285;negative regulation of cell proliferation;IDA|GO:0010033;response to organic substance;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IDA|GO:0016601;Rac protein signal transduction;IMP|GO:0030032;lamellipodium assembly;IDA|GO:0030100;regulation of endocytosis;IMP|GO:0030335;positive regulation of cell migration;IDA|GO:0034332;adherens junction organization;TAS|GO:0042058;regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043542;endothelial cell migration;IDA|GO:0043616;keratinocyte proliferation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048661;positive regulation of smooth muscle cell proliferation;IMP|GO:0050850;positive regulation of calcium-mediated signaling;IDA|GO:0050927;positive regulation of positive chemotaxis;IDA|GO:0051668;localization within membrane;IMP|GO:0055096;low-density lipoprotein particle mediated signaling;IDA GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043005;neuron projection;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0030169;low-density lipoprotein particle binding;IDA|GO:0042803;protein homodimerization activity;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA|GO:0055100;adiponectin binding;ISS|GO:0071813;lipoprotein particle binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CDH13 https://www.uniprot.org/uniprot/P55290 https://www.ncbi.nlm.nih.gov/omim/?term=601364 http://www.informatics.jax.org/searchtool/Search.do?query=CDH13&submit=Quick%0D%8094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH13 16_129.974_134.474 Chr16:87933002-90108832 0.174 CDH15 ENSG00000129910 cadherin 15 chr16:89238175-89261900 This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008] hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Heart Failure Homozygous null mice are viable, fertile, and show no apparent defects in the development, maintenance, or regeneration of skeletal muscle or in the cerebellum. Adherens junctions interactions GO:0007155;cell adhesion;TAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0034332;adherens junction organization;TAS|GO:0051149;positive regulation of muscle cell differentiation;TAS GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031594;neuromuscular junction;IEA|GO:0070062;extracellular exosome;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH15 https://www.uniprot.org/uniprot/P55291 https://hpo.jax.org/app/browse/search?q=CDH15&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=114019 http://www.informatics.jax.org/searchtool/Search.do?query=CDH15&submit=Quick%0D%6290ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH15 20_50.701_78.701 Chr20:25016495-51804476 1.1 CDH22 ENSG00000149654 cadherin 22 chr20:44802372-44937137 This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008] diabetes, type 2; Body Height; BMI GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007420;brain development;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005509;calcium ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDH22 https://www.uniprot.org/uniprot/Q9UJ99 https://www.ncbi.nlm.nih.gov/omim/?term=609920 http://www.informatics.jax.org/searchtool/Search.do?query=CDH22&submit=Quick%0D%9270ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDH22 16_129.974_134.474 Chr16:87933002-90108832 0.174 CDK10 ENSG00000185324 cyclin dependent kinase 10 chr16:89747145-89762772 The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Hair Color; Heart Failure; Melanoma Mice homozygous for a knock-out allele exhibit severe growth retardation, neonatal lethality, spine malformations and defects in lung, heart, liver and spleen. GO:0006468;protein phosphorylation;IEA|GO:0007089;traversing start control point of mitotic cell cycle;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016310;phosphorylation;IEA|GO:0043410;positive regulation of MAPK cascade;IEA GO:0016592;mediator complex;IBA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004693;cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0097472;cyclin-dependent protein kinase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDK10 https://hpo.jax.org/app/browse/search?q=CDK10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603464 http://www.informatics.jax.org/searchtool/Search.do?query=CDK10&submit=Quick%0D%15395ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK10 20_50.701_78.701 Chr20:25016495-51804476 1.1 CDK5RAP1 ENSG00000101391 CDK5 regulatory subunit associated protein 1 chr20:31946645-31989367 This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013] Hair Color; Narcolepsy; Type 2 Diabetes| edema | rosiglitazone; Iron Mice homozygous for a null allele show deficient mitochondrial tRNA modification, reduced mitochondrial protein synthesis, defects in oxidative phosphorylation, high susceptibility to stress-induced mitochondrial remodeling, and accelerated myopathy and cardiac dysfunction under stressed conditions. GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0006400;tRNA modification;IEA|GO:0007420;brain development;NAS|GO:0009451;RNA modification;IEA|GO:0035600;tRNA methylthiolation;IEA|GO:0043412;macromolecule modification;IEA|GO:0045664;regulation of neuron differentiation;NAS|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0045903;positive regulation of translational fidelity;IEA|GO:0070131;positive regulation of mitochondrial translation;IEA|GO:0070900;mitochondrial tRNA modification;IEA GO:0005575;cellular_component;ND|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA GO:0003824;catalytic activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;NAS|GO:0032403;protein complex binding;IEA|GO:0035597;N6-isopentenyladenosine methylthiotransferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051539;4 iron, 4 sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDK5RAP1 https://www.uniprot.org/uniprot/Q96SZ6 https://www.ncbi.nlm.nih.gov/omim/?term=608200 http://www.informatics.jax.org/searchtool/Search.do?query=CDK5RAP1&submit=Quick%0D%2726ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDK5RAP1 19_20.212_38.212 Chr19:6565245-15124834 0.429 CDKN2D ENSG00000129355 cyclin dependent kinase inhibitor 2D chr19:10677138-10679735 The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008] ovarian cancer; Waist Circumference; breast cancer ; breast cancer; Chronic renal failure|Kidney Failure, Chronic; ovarian cancer ; Multiple Endocrine Neoplasia Type 1 Both female and male homozygous null mice are fertile in spite of testicular atrophy and increased male germ cell apoptosis due to delayed meiosis. Cyclin D associated events in G1 GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0000082;G1/S transition of mitotic cell cycle;IDA|GO:0000731;DNA synthesis involved in DNA repair;IMP|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IDA|GO:0007605;sensory perception of sound;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009411;response to UV;IMP|GO:0016310;phosphorylation;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0032526;response to retinoic acid;IMP|GO:0033280;response to vitamin D;IMP|GO:0042326;negative regulation of phosphorylation;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0048102;autophagic cell death;IMP|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:1902807;negative regulation of cell cycle G1/S phase transition;IEA|GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0000082;G1/S transition of mitotic cell cycle;IDA|GO:0000731;DNA synthesis involved in DNA repair;IMP|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IDA|GO:0007605;sensory perception of sound;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009411;response to UV;IMP|GO:0016310;phosphorylation;IEA|GO:0030308;negative regulation of cell growth;IDA|GO:0032526;response to retinoic acid;IMP|GO:0033280;response to vitamin D;IMP|GO:0042326;negative regulation of phosphorylation;IDA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0048102;autophagic cell death;IMP|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:1902807;negative regulation of cell cycle G1/S phase transition;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0097129;cyclin D2-CDK4 complex;IEA GO:0004861;cyclin-dependent protein serine/threonine kinase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDKN2D https://www.uniprot.org/uniprot/P55273 https://hpo.jax.org/app/browse/search?q=CDKN2D&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600927 http://www.informatics.jax.org/searchtool/Search.do?query=CDKN2D&submit=Quick%0D%137ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDKN2D 22_57.194_74.694 Chr22:45430165-51215481 0.519 CDPF1 ENSG00000205643 cysteine rich DPF motif domain containing 1 chr22:46639908-46646576 GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDPF1 http://www.informatics.jax.org/searchtool/Search.do?query=CDPF1&submit=Quick%0D%17541ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDPF1 16_129.974_134.474 Chr16:87933002-90108832 0.174 CDT1 ENSG00000167513 chromatin licensing and DNA replication factor 1 chr16:88869621-88875666 The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011] breast cancer Mice homozygous for a small in-frame deletion in exon 2 are viable and fertile. Removal of licensing factors from origins GO:0000076;DNA replication checkpoint;IDA|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IMP|GO:0006260;DNA replication;IEA|GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IMP|GO:0030174;regulation of DNA-dependent DNA replication initiation;IDA|GO:0031334;positive regulation of protein complex assembly;IMP|GO:0033044;regulation of chromosome organization;IMP|GO:0033262;regulation of nuclear cell cycle DNA replication;IEA|GO:0035563;positive regulation of chromatin binding;IDA|GO:0051301;cell division;IMP|GO:0051315;attachment of mitotic spindle microtubules to kinetochore;IMP|GO:0051383;kinetochore organization;IMP|GO:0071163;DNA replication preinitiation complex assembly;IDA|GO:0072708;response to sorbitol;IDA|GO:1902426;deactivation of mitotic spindle assembly checkpoint;IMP|GO:1902595;regulation of DNA replication origin binding;IDA|GO:1905341;negative regulation of protein localization to kinetochore;IMP|GO:1905342;positive regulation of protein localization to kinetochore;IMP|GO:2000105;positive regulation of DNA-dependent DNA replication;IDA|GO:2001178;positive regulation of mediator complex assembly;IDA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CDT1 https://hpo.jax.org/app/browse/search?q=CDT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605525 http://www.informatics.jax.org/searchtool/Search.do?query=CDT1&submit=Quick%0D%12024ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDT1 16_101.974_110.974 Chr16:79461830-82833302 0.225 CDYL2 ENSG00000166446 chromodomain Y like 2 chr16:80631803-80838226 high-density lipoprotein cholesterol ; Erythrocyte Count; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Kidney Diseases; Hemoglobins; Tobacco Use Disorder GO:0008152;metabolic process;IEA GO:0005634;nucleus;IEA GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0035064;methylated histone binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CDYL2 http://www.informatics.jax.org/searchtool/Search.do?query=CDYL2&submit=Quick%0D%11794ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CDYL2 20_50.701_78.701 Chr20:25016495-51804476 1.1 CEBPB ENSG00000172216 CCAAT/enhancer binding protein beta chr20:48807376-48809212 This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions. [provided by RefSeq, Oct 2013] Bone Mineral Density; systemic lupus erythematosus; plasma HDL cholesterol (HDL-C) levels; obesity Homozygotes for targeted null mutations exhibit high neonatal hypoglycemia and mortality, reduced epididymal fat pad weight, susceptibility to Listeria monocytogenes, female sterility, impaired mammary development, and resistance to skin carcinogenesis. Transcriptional regulation of white adipocyte differentiation GO:0001541;ovarian follicle development;IEA|GO:0001889;liver development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006953;acute-phase response;TAS|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007613;memory;IEA|GO:0030154;cell differentiation;IEA|GO:0030182;neuron differentiation;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032753;positive regulation of interleukin-4 production;IEA|GO:0033598;mammary gland epithelial cell proliferation;IEA|GO:0034976;response to endoplasmic reticulum stress;IDA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0045408;regulation of interleukin-6 biosynthetic process;IEA|GO:0045444;fat cell differentiation;IEA|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;IEA|GO:0045670;regulation of osteoclast differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050873;brown fat cell differentiation;IEA|GO:0060644;mammary gland epithelial cell differentiation;IEA|GO:0060850;regulation of transcription involved in cell fate commitment;IEA|GO:0070059;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;TAS|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0072574;hepatocyte proliferation;IEA|GO:0097421;liver regeneration;IEA|GO:1990440;positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress;IDA GO:0000779;condensed chromosome, centromeric region;IEA|GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016363;nuclear matrix;IEA|GO:0036488;CHOP-C/EBP complex;NAS GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;TAS|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0019900;kinase binding;IEA|GO:0035035;histone acetyltransferase binding;IEA|GO:0035259;glucocorticoid receptor binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0044389;ubiquitin-like protein ligase binding;IEA|GO:0046982;protein heterodimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/CEBPB https://www.ncbi.nlm.nih.gov/omim/?term=189965 http://www.informatics.jax.org/searchtool/Search.do?query=CEBPB&submit=Quick%0D%13108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEBPB 22_57.194_74.694 Chr22:45430165-51215481 0.519 CELSR1 ENSG00000075275 cadherin EGF LAG seven-pass G-type receptor 1 chr22:46756731-46933067 The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008] Stroke; schizophrenia; Lipids; Brain Ischemia|Stroke; hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Tobacco Use Disorder Nullizygous mice exhibit kinky tails, variable neural tube defects, abnormal hair follicle orientation, whorl-like hair patterns, and partial prenatal lethality. ENU-induced mutants show defects in planar polarity of inner ear hair cells and complete perinatal lethality due to craniorachischisis. GO:0001736;establishment of planar polarity;IEA|GO:0001764;neuron migration;IEA|GO:0001843;neural tube closure;IEA|GO:0001942;hair follicle development;IEA|GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0007165;signal transduction;IEA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007266;Rho protein signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007417;central nervous system development;NAS|GO:0007626;locomotory behavior;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0032956;regulation of actin cytoskeleton organization;IEA|GO:0042060;wound healing;IEA|GO:0042249;establishment of planar polarity of embryonic epithelium;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0045176;apical protein localization;IEA|GO:0048105;establishment of body hair planar orientation;IEA|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;NAS|GO:0060488;orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis;IEA|GO:0060489;planar dichotomous subdivision of terminal units involved in lung branching morphogenesis;IEA|GO:0060490;lateral sprouting involved in lung morphogenesis;IEA|GO:0090179;planar cell polarity pathway involved in neural tube closure;IEA|GO:0090251;protein localization involved in establishment of planar polarity;IEA GO:0005654;nucleoplasm;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;NAS|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0046983;protein dimerization activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/CELSR1 https://www.uniprot.org/uniprot/Q9NYQ6 https://www.ncbi.nlm.nih.gov/omim/?term=604523 http://www.informatics.jax.org/searchtool/Search.do?query=CELSR1&submit=Quick%0D%1536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CELSR1 16_129.974_134.474 Chr16:87933002-90108832 0.174 CENPBD1 ENSG00000177946 CENPB DNA-binding domain containing 1 chr16:90036206-90038942 GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CENPBD1 http://www.informatics.jax.org/searchtool/Search.do?query=CENPBD1&submit=Quick%0D%14107ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPBD1 16_101.974_110.974 Chr16:79461830-82833302 0.225 CENPN ENSG00000166451 centromere protein N chr16:81040103-81066719 The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] smoking cessation Mitotic Prometaphase GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0034080;CENP-A containing nucleosome assembly;TAS|GO:0034508;centromere complex assembly;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005829;cytosol;TAS http://www.genecards.org/index.php?path=/Search/keyword/CENPN https://www.ncbi.nlm.nih.gov/omim/?term=611509 http://www.informatics.jax.org/searchtool/Search.do?query=CENPN&submit=Quick%0D%11797ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CENPN 20_50.701_78.701 Chr20:25016495-51804476 1.1 CEP250 ENSG00000126001 centrosomal protein 250 chr20:34042985-34099804 This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Height; Chronic renal failure|Kidney Failure, Chronic; breast cancer; height; Body Height AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IDA|GO:0007049;cell cycle;IEA|GO:0008104;protein localization;IMP|GO:0010457;centriole-centriole cohesion;IMP|GO:0030997;regulation of centriole-centriole cohesion;IDA|GO:0033365;protein localization to organelle;IMP|GO:0097711;ciliary basal body docking;TAS|GO:1904781;positive regulation of protein localization to centrosome;IMP|GO:1905515;non-motile cilium assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;NAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IMP|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP250 https://www.uniprot.org/uniprot/Q9BV73 https://hpo.jax.org/app/browse/search?q=CEP250&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609689 http://www.informatics.jax.org/searchtool/Search.do?query=CEP250&submit=Quick%0D%5899ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP250 12_78.016_106.016 Chr12:64973018-92996828 1.299 CEP290 ENSG00000198707 centrosomal protein 290 chr12:88442793-88535993 This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008] Blindness|Optic Atrophy, Hereditary, Leber; Blind Vision|Blindness|Retinal Degeneration; Joubert syndrome nephronophthisis; Blind Vision|Blindness|Retinal Diseases|Retinitis Pigmentosa; Retinal Diseases Mutant mice display mislocalization of ciliary and phototransduction proteins resulting in early-onset retinal degeneration. Heterotaxy with transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), left bronchial isomerism, and hypoplastic spleen is also seen. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0030902;hindbrain development;ISS|GO:0030916;otic vesicle formation;ISS|GO:0042462;eye photoreceptor cell development;ISS|GO:0043312;neutrophil degranulation;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0048793;pronephros development;ISS|GO:0060271;cilium assembly;IDA|GO:0070201;regulation of establishment of protein localization;IMP|GO:0090316;positive regulation of intracellular protein transport;IMP|GO:0097711;ciliary basal body docking;TAS GO:0000930;gamma-tubulin complex;IDA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032391;photoreceptor connecting cilium;ISS|GO:0034451;centriolar satellite;IDA|GO:0035580;specific granule lumen;TAS|GO:0035869;ciliary transition zone;IDA|GO:0036038;MKS complex;ISS|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CEP290 https://hpo.jax.org/app/browse/search?q=CEP290&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610142 http://www.informatics.jax.org/searchtool/Search.do?query=CEP290&submit=Quick%0D%16968ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP290 22_57.194_74.694 Chr22:45430165-51215481 0.519 CERK ENSG00000100422 ceramide kinase chr22:47080308-47134158 CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit reduced body weight, increased susceptibility to infection and decreased neutrophil numbers. Glycosphingolipid metabolism GO:0006672;ceramide metabolic process;IDA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0046834;lipid phosphorylation;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0001729;ceramide kinase activity;TAS|GO:0003951;NAD+ kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CERK https://www.uniprot.org/uniprot/Q8TCT0 https://www.ncbi.nlm.nih.gov/omim/?term=610307 http://www.informatics.jax.org/searchtool/Search.do?query=CERK&submit=Quick%0D%2518ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CERK 19_20.212_38.212 Chr19:6565245-15124834 0.429 CERS4 ENSG00000090661 ceramide synthase 4 chr19:8271620-8327305 sphingolipid concentrations; prostate cancer; normal variation Mice homozygous for a knock-out allele exhibit altered lipid composition of the sebum and hair follicle dystrophy that results in a progressive form of alopecia. Sphingolipid de novo biosynthesis GO:0006629;lipid metabolic process;IEA|GO:0030148;sphingolipid biosynthetic process;TAS|GO:0046513;ceramide biosynthetic process;IEA GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA GO:0003677;DNA binding;IEA|GO:0050291;sphingosine N-acyltransferase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/CERS4 https://www.uniprot.org/uniprot/Q9HA82 https://www.ncbi.nlm.nih.gov/omim/?term=615334 http://www.informatics.jax.org/searchtool/Search.do?query=CERS4&submit=Quick%0D%2115ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CERS4 20_50.701_78.701 Chr20:25016495-51804476 1.1 CHD6 ENSG00000124177 chromodomain helicase DNA binding protein 6 chr20:40030741-40247133 This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013] Heart Rate; Tobacco Use Disorder Homozygous null mice display impaired coordination that is not due to muscle weakness or bradykinesia. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0036091;positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005665;DNA-directed RNA polymerase II, core complex;IDA GO:0000166;nucleotide binding;IEA|GO:0001221;transcription cofactor binding;IPI|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016817;hydrolase activity, acting on acid anhydrides;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHD6 https://www.uniprot.org/uniprot/Q8TD26 https://www.ncbi.nlm.nih.gov/omim/?term=616114 http://www.informatics.jax.org/searchtool/Search.do?query=CHD6&submit=Quick%0D%5606ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHD6 22_57.194_74.694 Chr22:45430165-51215481 0.519 CHKB ENSG00000100288 choline kinase beta chr22:51017378-51039884 Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009] Narcolepsy; Hypercholesterolemia|LDLC levels; BMI- Edema rosiglitazone or pioglitazone; Disorders of Excessive Somnolence|; Type 2 Diabetes| edema | rosiglitazone Homozygous null mice display progressive muscular weakness and dystrophy in the hindlimbs but have normal nerve and neuromuscular junction morphology. Synthesis of PE GO:0006629;lipid metabolic process;IEA|GO:0006646;phosphatidylethanolamine biosynthetic process;TAS|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006657;CDP-choline pathway;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0016310;phosphorylation;IEA|GO:0046474;glycerophospholipid biosynthetic process;IEA GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004103;choline kinase activity;TAS|GO:0004305;ethanolamine kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHKB https://www.uniprot.org/uniprot/Q9Y259 https://hpo.jax.org/app/browse/search?q=CHKB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612395 http://www.informatics.jax.org/searchtool/Search.do?query=CHKB&submit=Quick%0D%2460ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHKB 22_57.194_74.694 Chr22:45430165-51215481 0.519 CHKB-CPT1B ENSG00000254413 CHKB-CPT1B readthrough (NMD candidate) chr22:51007298-51021394 The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins. [provided by RefSeq, Jun 2009] Homozygous null mice display progressive muscular weakness and dystrophy in the hindlimbs but have normal nerve and neuromuscular junction morphology. GO:0016310;phosphorylation;IEA|GO:0046474;glycerophospholipid biosynthetic process;IEA GO:0016301;kinase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHKB-CPT1B http://www.informatics.jax.org/searchtool/Search.do?query=CHKB-CPT1B&submit=Quick%0D%20054ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHKB-CPT1B 16_129.974_134.474 Chr16:87933002-90108832 0.174 CHMP1A ENSG00000131165 charged multivesicular body protein 1A chr16:89710839-89724253 This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Pontocerebellar hypoplasia and microcephaly GO:0000920;cell separation after cytokinesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006508;proteolysis;IEA|GO:0006810;transport;IEA|GO:0006997;nucleus organization;IMP|GO:0007034;vacuolar transport;IEA|GO:0007049;cell cycle;IEA|GO:0007076;mitotic chromosome condensation;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0016458;gene silencing;IDA|GO:0036258;multivesicular body assembly;NAS|GO:0039702;viral budding via host ESCRT complex;NAS|GO:0045014;negative regulation of transcription by glucose;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051301;cell division;IEA|GO:1901673;regulation of mitotic spindle assembly;IMP|GO:1904903;ESCRT III complex disassembly;NAS GO:0000794;condensed nuclear chromosome;IDA|GO:0000815;ESCRT III complex;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005815;microtubule organizing center;IDA|GO:0010008;endosome membrane;IEA|GO:0012505;endomembrane system;IDA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008237;metallopeptidase activity;TAS|GO:0008270;zinc ion binding;TAS|GO:0019904;protein domain specific binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/CHMP1A https://www.uniprot.org/uniprot/Q9HD42 https://hpo.jax.org/app/browse/search?q=CHMP1A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164010 http://www.informatics.jax.org/searchtool/Search.do?query=CHMP1A&submit=Quick%0D%6508ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHMP1A 20_50.701_78.701 Chr20:25016495-51804476 1.1 CHMP4B ENSG00000101421 charged multivesicular body protein 4B chr20:32399110-32442172 This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009] CATARACT 31 MULTIPLE TYPES Mice homozygous for a gene trap insertion die between E7.5 and E8.5. Endosomal Sorting Complex Required For Transport (ESCRT) GO:0000281;mitotic cytokinesis;IMP|GO:0000920;cell separation after cytokinesis;IMP|GO:0006620;posttranslational protein targeting to endoplasmic reticulum membrane;IMP|GO:0006810;transport;IEA|GO:0006914;autophagy;IMP|GO:0006997;nucleus organization;IMP|GO:0007034;vacuolar transport;IEA|GO:0007080;mitotic metaphase plate congression;IMP|GO:0010458;exit from mitosis;IMP|GO:0010506;regulation of autophagy;IEA|GO:0010824;regulation of centrosome duplication;IMP|GO:0015031;protein transport;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0031468;nuclear envelope reassembly;IMP|GO:0036258;multivesicular body assembly;TAS|GO:0036438;maintenance of lens transparency;IMP|GO:0039702;viral budding via host ESCRT complex;IDA|GO:0046755;viral budding;IMP|GO:0050792;regulation of viral process;IMP|GO:0051260;protein homooligomerization;IDA|GO:0060548;negative regulation of cell death;IMP|GO:0090148;membrane fission;IMP|GO:0090611;ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway;IMP|GO:1901215;negative regulation of neuron death;IMP|GO:1901673;regulation of mitotic spindle assembly;IMP|GO:1902188;positive regulation of viral release from host cell;IMP|GO:1902902;negative regulation of autophagosome assembly;IMP GO:0000815;ESCRT III complex;IDA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005829;cytosol;TAS|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0030117;membrane coat;IDA|GO:0030496;midbody;IDA|GO:0031902;late endosome membrane;IEA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/CHMP4B https://www.uniprot.org/uniprot/Q9H444 https://hpo.jax.org/app/browse/search?q=CHMP4B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610897 http://www.informatics.jax.org/searchtool/Search.do?query=CHMP4B&submit=Quick%0D%2733ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHMP4B 2_187.744_190.744 Chr2:174108399-175872495 0.223 CHN1 ENSG00000128656 chimerin 1 chr2:175664091-175870097 This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] Tobacco Use Disorder; Alcoholism Mice homologous for a null allele exhibit transient postnatal size reduction, abnormal gait and abnormal innervation of the spinal cord. Rho GTPase cycle GO:0007165;signal transduction;IEA|GO:0007399;nervous system development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048013;ephrin receptor signaling pathway;ISS|GO:0050770;regulation of axonogenesis;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046875;ephrin receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CHN1 https://www.uniprot.org/uniprot/P15882 https://hpo.jax.org/app/browse/search?q=CHN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=118423 http://www.informatics.jax.org/searchtool/Search.do?query=CHN1&submit=Quick%0D%6172ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHN1 2_187.744_190.744 Chr2:174108399-175872495 0.223 CHRNA1 ENSG00000138435 cholinergic receptor nicotinic alpha 1 subunit chr2:175612320-175629200 The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012] Alcoholism; lung cancer ; autoimmune myasthenia gravis; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Tobacco Use Disorder; several psychiatric disorders; Cardiovascular Diseases; Type 2 Diabetes| edema | rosiglitazone; bipolar disorder; dizziness to tobacco Mice homozygous for a knock-out allele exhibit neonatal lethality, kyphosis, carpotosis, absent miniature and nerve-evoked endplant potential, increased motor neuron number, and abnormal neuromuscular synapse. Highly calcium permeable nicotinic acetylcholine receptors GO:0003009;skeletal muscle contraction;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0007165;signal transduction;TAS|GO:0007271;synaptic transmission, cholinergic;IBA|GO:0007274;neuromuscular synaptic transmission;IMP|GO:0007528;neuromuscular junction development;IMP|GO:0019228;neuronal action potential;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0035094;response to nicotine;IBA|GO:0042391;regulation of membrane potential;IMP|GO:0046716;muscle cell cellular homeostasis;IMP|GO:0048630;skeletal muscle tissue growth;IMP|GO:0050881;musculoskeletal movement;IMP|GO:0050905;neuromuscular process;IMP|GO:0060078;regulation of postsynaptic membrane potential;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0070050;neuron cellular homeostasis;IMP|GO:0098655;cation transmembrane transport;IBA GO:0005886;plasma membrane;IDA|GO:0005892;acetylcholine-gated channel complex;ISS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0031594;neuromuscular junction;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005230;extracellular ligand-gated ion channel activity;IEA|GO:0015276;ligand-gated ion channel activity;TAS|GO:0015464;acetylcholine receptor activity;TAS|GO:0022848;acetylcholine-gated cation-selective channel activity;IEA|GO:0042166;acetylcholine binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/CHRNA1 https://www.uniprot.org/uniprot/P02708 https://hpo.jax.org/app/browse/search?q=CHRNA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=100690 http://www.informatics.jax.org/searchtool/Search.do?query=CHRNA1&submit=Quick%0D%7731ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CHRNA1 2_187.744_190.744 Chr2:174108399-175872495 0.223 CIR1 ENSG00000138433 corepressor interacting with RBPJ, 1 chr2:175212750-175260443 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA|GO:0016607;nuclear speck;IDA GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CIR1 https://www.uniprot.org/uniprot/Q86X95 https://www.ncbi.nlm.nih.gov/omim/?term=605228 http://www.informatics.jax.org/searchtool/Search.do?query=CIR1&submit=Quick%0D%7729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CIR1 19_20.212_38.212 Chr19:6565245-15124834 0.429 CLEC17A ENSG00000187912 C-type lectin domain containing 17A chr19:14693896-14721969 GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005537;mannose binding;IDA|GO:0030246;carbohydrate binding;IEA|GO:0042806;fucose binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLEC17A https://www.ncbi.nlm.nih.gov/omim/?term=616838 http://www.informatics.jax.org/searchtool/Search.do?query=CLEC17A&submit=Quick%0D%15925ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC17A 19_20.212_38.212 Chr19:6565245-15124834 0.429 CLEC4G ENSG00000182566 C-type lectin domain family 4 member G chr19:7793843-7798792 This gene encodes a glycan-binding receptor and member of the C-type lectin family which plays a role in the T-cell immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Severe Acute Respiratory Syndrome Mice homozygous for a knock-out allele exhibit increased intrahepatic T cell immunity, enhanced immune-mediated liver injury during Con A-induced experimental acute hepatitis, and accelerated CTL-dependent adenovirus clearance. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0002710;negative regulation of T cell mediated immunity;IEA|GO:0016032;viral process;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0046718;viral entry into host cell;IEA|GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001618;virus receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA|GO:0030247;polysaccharide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLEC4G https://www.ncbi.nlm.nih.gov/omim/?term=616256 http://www.informatics.jax.org/searchtool/Search.do?query=CLEC4G&submit=Quick%0D%14813ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC4G 19_20.212_38.212 Chr19:6565245-15124834 0.429 CLEC4M ENSG00000104938 C-type lectin domain family 4 member M chr19:7828035-7834491 This gene encodes a transmembrane receptor and is often referred to as L-SIGN because of its expression in the endothelial cells of the lymph nodes and liver. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses, with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are common and have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 30835; often referred to as DC-SIGN or CD209). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009] mother-to-child transmission of HIV-1; Cell Adhesion Molecules; Hepatitis C|HIV Infections; Severe Acute Respiratory Syndrome; SARS infection; clinical courses of HIV; HIV Infections|Sexually Transmitted Diseases; null; HIV Infections; HIV; hepatitis C; Communicable Diseases|Severe Acute Respiratory Syndrome; Coronary Artery Disease; Hepatitis C|Remission, Spontaneous Mice homozygous for a knock-out allele exhibit normal susceptibility to bacterial infection despite altered lymphocyte numbers and increased inflammatory response.. GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006897;endocytosis;IEA|GO:0007159;leukocyte cell-cell adhesion;NAS|GO:0009988;cell-cell recognition;TAS|GO:0010468;regulation of gene expression;IMP|GO:0016032;viral process;IEA|GO:0019048;modulation by virus of host morphology or physiology;TAS|GO:0019062;virion attachment to host cell;TAS|GO:0019079;viral genome replication;NAS|GO:0019882;antigen processing and presentation;NAS|GO:0030193;regulation of blood coagulation;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0045087;innate immune response;IEA|GO:0046718;viral entry into host cell;IEA|GO:0046968;peptide antigen transport;NAS|GO:0075733;intracellular transport of virus;TAS GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;NAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001618;virus receptor activity;IDA|GO:0004872;receptor activity;NAS|GO:0005537;mannose binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0030369;ICAM-3 receptor activity;NAS|GO:0042605;peptide antigen binding;NAS|GO:0046790;virion binding;TAS|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CLEC4M https://www.uniprot.org/uniprot/Q9H2X3 https://www.ncbi.nlm.nih.gov/omim/?term=605872 http://www.informatics.jax.org/searchtool/Search.do?query=CLEC4M&submit=Quick%0D%3206ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLEC4M 12_78.016_106.016 Chr12:64973018-92996828 1.299 CLLU1 ENSG00000257127 chronic lymphocytic leukemia up-regulated 1 chr12:92815307-92824778 The protein encoded by this gene is overexpressed in chronic lymphocytic leukemia (CLL) and serves as a good prognostic marker for the disease. Methylation of certain genes, including this one, have been associated with CLL. This gene is protein-coding in humans and non-protein coding in other primates. Three transcript variants, one protein-coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015] Prostatic Neoplasms; Death, Sudden, Cardiac GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/CLLU1 https://www.ncbi.nlm.nih.gov/omim/?term=616988 http://www.informatics.jax.org/searchtool/Search.do?query=CLLU1&submit=Quick%0D%20228ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLLU1 12_78.016_106.016 Chr12:64973018-92996828 1.299 CLLU1OS ENSG00000205057 chronic lymphocytic leukemia up-regulated 1 opposite strand chr12:92813870-92821924 http://www.genecards.org/index.php?path=/Search/keyword/CLLU1OS https://www.ncbi.nlm.nih.gov/omim/?term=616989 http://www.informatics.jax.org/searchtool/Search.do?query=CLLU1OS&submit=Quick%0D%17455ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CLLU1OS 16_101.974_110.974 Chr16:79461830-82833302 0.225 CMC2 ENSG00000103121 C-X9-C motif containing 2 chr16:81009698-81053875 smoking cessation; high-density lipoprotein cholesterol Mitochondrial protein import GO:0005739;mitochondrion;IDA http://www.genecards.org/index.php?path=/Search/keyword/CMC2 https://www.uniprot.org/uniprot/Q9NRP2 http://www.informatics.jax.org/searchtool/Search.do?query=CMC2&submit=Quick%0D%2969ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CMC2 16_101.974_110.974 Chr16:79461830-82833302 0.225 CMIP ENSG00000153815 c-Maf inducing protein chr16:81478775-81745367 This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Myocardial Infarction; Diabetes Mellitus, Type 2; Tunica Media; Adiponectin; Body Height; Cholesterol, HDL; Metabolism GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CMIP https://www.uniprot.org/uniprot/Q8IY22 https://www.ncbi.nlm.nih.gov/omim/?term=610112 http://www.informatics.jax.org/searchtool/Search.do?query=CMIP&submit=Quick%0D%9689ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CMIP 20_50.701_78.701 Chr20:25016495-51804476 1.1 CNBD2 ENSG00000149646 cyclic nucleotide binding domain containing 2 chr20:34556512-34618622 Mice homozygous for a knock-out allele exhibit reduced male fertility associated with impaired spermiogenesis and development of flagellum bending. GO:0007283;spermatogenesis;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA GO:0000166;nucleotide binding;IEA|GO:0030552;cAMP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CNBD2 https://www.uniprot.org/uniprot/Q96M20 http://www.informatics.jax.org/searchtool/Search.do?query=CNBD2&submit=Quick%0D%9268ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNBD2 19_20.212_38.212 Chr19:6565245-15124834 0.429 CNN1 ENSG00000130176 calponin 1 chr19:11649532-11661138 Type 2 Diabetes| edema | rosiglitazone Mice homozygous for an allele lacking exons 5-7 exhibit accelerated cartilage formation and ossification. As adults mutant animals have increased width of the long bones and accelerated bone fracture repair. Mice homozygous for an allele lacking intron 1exhibit preweaning lethality. GO:0006940;regulation of smooth muscle contraction;TAS|GO:0031032;actomyosin structure organization;IEA|GO:1904706;negative regulation of vascular smooth muscle cell proliferation;IGI GO:0005856;cytoskeleton;IDA|GO:0005925;focal adhesion;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CNN1 https://www.uniprot.org/uniprot/P51911 https://www.ncbi.nlm.nih.gov/omim/?term=600806 http://www.informatics.jax.org/searchtool/Search.do?query=CNN1&submit=Quick%0D%6326ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNN1 12_78.016_106.016 Chr12:64973018-92996828 1.299 CNOT2 ENSG00000111596 CCR4-NOT transcription complex subunit 2 chr12:70636774-70748773 This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] Tobacco Use Disorder; Heart Failure TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0000288;nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IBA|GO:0000289;nuclear-transcribed mRNA poly(A) tail shortening;TAS|GO:0001829;trophectodermal cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006417;regulation of translation;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007275;multicellular organism development;IEA|GO:0010606;positive regulation of cytoplasmic mRNA processing body assembly;IMP|GO:0017148;negative regulation of translation;IBA|GO:0031047;gene silencing by RNA;IEA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IMP|GO:0090503;RNA phosphodiester bond hydrolysis, exonucleolytic;IEA|GO:2000036;regulation of stem cell population maintenance;IMP GO:0000932;P-body;IBA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030014;CCR4-NOT complex;IDA|GO:0030015;CCR4-NOT core complex;IBA GO:0001104;RNA polymerase II transcription cofactor activity;TAS|GO:0001226;RNA polymerase II transcription corepressor binding;IDA|GO:0004535;poly(A)-specific ribonuclease activity;IMP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CNOT2 https://www.uniprot.org/uniprot/Q9NZN8 https://www.ncbi.nlm.nih.gov/omim/?term=604909 http://www.informatics.jax.org/searchtool/Search.do?query=CNOT2&submit=Quick%0D%4090ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CNOT2 19_20.212_38.212 Chr19:6565245-15124834 0.429 COL5A3 ENSG00000080573 collagen type V alpha 3 chain chr19:10070237-10121147 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008] Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer. Collagen chain trimerization GO:0007160;cell-matrix adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;NAS|GO:0030574;collagen catabolic process;TAS|GO:0043588;skin development;NAS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005588;collagen type V trimer;NAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;NAS|GO:0005518;collagen binding;NAS|GO:0008201;heparin binding;IEA|GO:0043394;proteoglycan binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/COL5A3 https://www.uniprot.org/uniprot/P25940 https://www.ncbi.nlm.nih.gov/omim/?term=120216 http://www.informatics.jax.org/searchtool/Search.do?query=COL5A3&submit=Quick%0D%1735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COL5A3 20_50.701_78.701 Chr20:25016495-51804476 1.1 COMMD7 ENSG00000149600 COMM domain containing 7 chr20:31290493-31331803 Tobacco Use Disorder Neddylation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0051059;NF-kappaB binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/COMMD7 https://www.uniprot.org/uniprot/Q86VX2 https://www.ncbi.nlm.nih.gov/omim/?term=616703 http://www.informatics.jax.org/searchtool/Search.do?query=COMMD7&submit=Quick%0D%9262ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COMMD7 11_21.322_43.322 Chr11:11392976-25199292 1.269 COPB1 ENSG00000129083 coatomer protein complex subunit beta 1 chr11:14464986-14521573 This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] COPI-dependent Golgi-to-ER retrograde traffic GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0006891;intra-Golgi vesicle-mediated transport;IEA|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043312;neutrophil degranulation;TAS GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005798;Golgi-associated vesicle;TAS|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0030117;membrane coat;IEA|GO:0030126;COPI vesicle coat;IEA|GO:0030133;transport vesicle;TAS|GO:0030137;COPI-coated vesicle;IEA|GO:0030663;COPI-coated vesicle membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070821;tertiary granule membrane;TAS|GO:0101003;ficolin-1-rich granule membrane;TAS GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/COPB1 https://www.uniprot.org/uniprot/P53618 https://www.ncbi.nlm.nih.gov/omim/?term=600959 http://www.informatics.jax.org/searchtool/Search.do?query=COPB1&submit=Quick%0D%6212ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COPB1 20_50.701_78.701 Chr20:25016495-51804476 1.1 COX4I2 ENSG00000131055 cytochrome c oxidase subunit 4I2 chr20:30225691-30232809 Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; prostate cancer Mice homozygous for a null mutation display lung inflammation and decreased airway responsiveness. Females show decreased lean body mass and improved glucose tolerance. GO:0006091;generation of precursor metabolites and energy;NAS|GO:0006123;mitochondrial electron transport, cytochrome c to oxygen;IBA|GO:0045333;cellular respiration;NAS|GO:0055114;oxidation-reduction process;NAS|GO:0071456;cellular response to hypoxia;IEA|GO:1902600;hydrogen ion transmembrane transport;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005751;mitochondrial respiratory chain complex IV;IC|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA GO:0004129;cytochrome-c oxidase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/COX4I2 https://www.uniprot.org/uniprot/Q96KJ9 https://hpo.jax.org/app/browse/search?q=COX4I2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607976 http://www.informatics.jax.org/searchtool/Search.do?query=COX4I2&submit=Quick%0D%6486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=COX4I2 12_78.016_106.016 Chr12:64973018-92996828 1.299 CPM ENSG00000135678 carboxypeptidase M chr12:69235977-69365350 The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] Heart Failure; bronchodilator response; Echocardiography; Blood Pressure Post-translational modification: synthesis of GPI-anchored proteins GO:0006501;C-terminal protein lipidation;TAS|GO:0006508;proteolysis;IEA|GO:0006518;peptide metabolic process;IBA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016485;protein processing;IBA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004180;carboxypeptidase activity;TAS|GO:0004181;metallocarboxypeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPM https://www.uniprot.org/uniprot/P14384 https://www.ncbi.nlm.nih.gov/omim/?term=114860 http://www.informatics.jax.org/searchtool/Search.do?query=CPM&submit=Quick%0D%7200ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPM 20_50.701_78.701 Chr20:25016495-51804476 1.1 CPNE1 ENSG00000214078 copine 1 chr20:34213953-34252878 Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Aug 2008] Neutrophil degranulation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006508;proteolysis;IMP|GO:0006629;lipid metabolic process;TAS|GO:0010629;negative regulation of gene expression;IMP|GO:0016192;vesicle-mediated transport;TAS|GO:0030154;cell differentiation;IEA|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043392;negative regulation of DNA binding;IDA|GO:0045666;positive regulation of neuron differentiation;IDA|GO:0046474;glycerophospholipid biosynthetic process;TAS|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0071277;cellular response to calcium ion;IMP|GO:1901223;negative regulation of NIK/NF-kappaB signaling;IMP|GO:1903265;positive regulation of tumor necrosis factor-mediated signaling pathway;IMP|GO:1990138;neuron projection extension;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0031965;nuclear membrane;IDA|GO:0035577;azurophil granule membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001786;phosphatidylserine binding;IDA|GO:0004175;endopeptidase activity;IDA|GO:0005215;transporter activity;TAS|GO:0005509;calcium ion binding;IMP|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;TAS|GO:0042803;protein homodimerization activity;IMP|GO:0051059;NF-kappaB binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CPNE1 https://www.ncbi.nlm.nih.gov/omim/?term=604205 http://www.informatics.jax.org/searchtool/Search.do?query=CPNE1&submit=Quick%0D%18209ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPNE1 16_129.974_134.474 Chr16:87933002-90108832 0.174 CPNE7 ENSG00000178773 copine 7 chr16:89642176-89663654 This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Suntan; Pancreatic Neoplasms; Heart Failure Glycerophospholipid biosynthesis GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0046474;glycerophospholipid biosynthetic process;TAS|GO:0071277;cellular response to calcium ion;IDA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CPNE7 https://www.ncbi.nlm.nih.gov/omim/?term=605689 http://www.informatics.jax.org/searchtool/Search.do?query=CPNE7&submit=Quick%0D%14230ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPNE7 12_78.016_106.016 Chr12:64973018-92996828 1.299 CPSF6 ENSG00000111605 cleavage and polyadenylation specific factor 6 chr12:69633317-69668138 The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008] height Signaling by FGFR1 in disease GO:0006378;mRNA polyadenylation;IMP|GO:0006397;mRNA processing;IDA|GO:0051262;protein tetramerization;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005849;mRNA cleavage factor complex;IDA|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA|GO:0042382;paraspeckles;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CPSF6 https://www.uniprot.org/uniprot/Q16630 https://www.ncbi.nlm.nih.gov/omim/?term=604979 http://www.informatics.jax.org/searchtool/Search.do?query=CPSF6&submit=Quick%0D%4092ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPSF6 22_57.194_74.694 Chr22:45430165-51215481 0.519 CPT1B ENSG00000205560 carnitine palmitoyltransferase 1B chr22:51007290-51017899 The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009] Type 2 Diabetes| edema | rosiglitazone; Diabetes Mellitus, Type 2; Disorders of Excessive Somnolence|; obesity; plasma HDL cholesterol (HDL-C) levels; Acquired Immunodeficiency Syndrome|Disease Progression; Leukemia, Lymphocytic, Chronic, B-Cell; left ventricular hypertrophy; Alzheimer's disease ; BMI- Edema rosiglitazone or pioglitazone; Narcolepsy; narcolepsy Homozygous null mice die in utero prior to E9.5. Heterozygous mutant mice exhibit susceptibility to fatal hypothermia following cold exposure, with females more severely affected. Signaling by Retinoic Acid GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006635;fatty acid beta-oxidation;TAS|GO:0006810;transport;IEA|GO:0006853;carnitine shuttle;TAS|GO:0015909;long-chain fatty acid transport;IEA GO:0005739;mitochondrion;TAS|GO:0005741;mitochondrial outer membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004095;carnitine O-palmitoyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPT1B https://www.ncbi.nlm.nih.gov/omim/?term=601987 http://www.informatics.jax.org/searchtool/Search.do?query=CPT1B&submit=Quick%0D%17532ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPT1B 4_17.387_23.387 Chr4:7152608-8704080 0.68 CPZ ENSG00000109625 carboxypeptidase Z chr4:8594387-8621488 This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Erythrocyte Count; Tobacco Use Disorder; Neuroblastoma GO:0006508;proteolysis;TAS|GO:0006518;peptide metabolic process;IBA|GO:0016055;Wnt signaling pathway;IEA|GO:0016485;protein processing;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IBA|GO:0070062;extracellular exosome;IDA GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CPZ https://www.uniprot.org/uniprot/Q66K79 https://www.ncbi.nlm.nih.gov/omim/?term=603105 http://www.informatics.jax.org/searchtool/Search.do?query=CPZ&submit=Quick%0D%3866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CPZ 22_57.194_74.694 Chr22:45430165-51215481 0.519 CRELD2 ENSG00000184164 cysteine rich with EGF like domains 2 chr22:50311815-50321188 Marijuana Abuse GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CRELD2 https://www.ncbi.nlm.nih.gov/omim/?term=607171 http://www.informatics.jax.org/searchtool/Search.do?query=CRELD2&submit=Quick%0D%15146ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CRELD2 20_50.701_78.701 Chr20:25016495-51804476 1.1 CSE1L ENSG00000124207 chromosome segregation 1 like chr20:47662849-47713489 Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] Iron Embryos homozygous for a targeted null mutation die prior to E5.5 of development and are morphologically disorganized and lack identifiable structures. GO:0006611;protein export from nucleus;IEA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006915;apoptotic process;TAS|GO:0008283;cell proliferation;TAS|GO:0015031;protein transport;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005049;nuclear export signal receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CSE1L https://www.uniprot.org/uniprot/P55060 https://www.ncbi.nlm.nih.gov/omim/?term=601342 http://www.informatics.jax.org/searchtool/Search.do?query=CSE1L&submit=Quick%0D%5616ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSE1L 12_78.016_106.016 Chr12:64973018-92996828 1.299 CSRP2 ENSG00000175183 cysteine and glycine rich protein 2 chr12:77252495-77272840 CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Mice homozygous for one null allele display increased neointima formation following arterial injury and increased migration of vascular smooth muscle cells in response to PDGF-BB. GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA GO:0005634;nucleus;IEA|GO:0005925;focal adhesion;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CSRP2 https://www.ncbi.nlm.nih.gov/omim/?term=601871 http://www.informatics.jax.org/searchtool/Search.do?query=CSRP2&submit=Quick%0D%13651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSRP2 11_21.322_43.322 Chr11:11392976-25199292 1.269 CSRP3 ENSG00000129170 cysteine and glycine rich protein 3 chr11:19203578-19232120 This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Stroke; Cardiomyopathy, Hypertrophic; Cardiomyopathy, Dilated; Magnesium; Type 2 Diabetes| edema | rosiglitazone; Cardiomyopathy, Hypertrophic|; idiopathic dilated cardiomyopathy; dilated cardiomyopathy Homozygotes for a targeted null mutation exhibit dilated cardiomyopathy characterized by disrupted cardiomyocyte organization that results in premature death, left ventricle dilation, hypertrophy, decreased contractility, and fibrosis. Some homozygotes die postnataly due to heart failure. GO:0002026;regulation of the force of heart contraction;ISS|GO:0003300;cardiac muscle hypertrophy;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006874;cellular calcium ion homeostasis;ISS|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;IEA|GO:0007519;skeletal muscle tissue development;TAS|GO:0030154;cell differentiation;IEA|GO:0033365;protein localization to organelle;IMP|GO:0035995;detection of muscle stretch;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IGI|GO:0048738;cardiac muscle tissue development;ISS|GO:0055003;cardiac myofibril assembly;ISS|GO:0060048;cardiac muscle contraction;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IDA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0008307;structural constituent of muscle;IMP|GO:0031433;telethonin binding;IDA|GO:0042802;identical protein binding;IPI|GO:0042805;actinin binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CSRP3 https://www.uniprot.org/uniprot/P50461 https://hpo.jax.org/app/browse/search?q=CSRP3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600824 http://www.informatics.jax.org/searchtool/Search.do?query=CSRP3&submit=Quick%0D%6222ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CSRP3 20_50.701_78.701 Chr20:25016495-51804476 1.1 CTNNBL1 ENSG00000132792 catenin beta like 1 chr20:36322408-36500531 The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013] obesity; Bone Density; Angiography; Tobacco Use Disorder; Bone Mineral Density; Obesity; obesity|asthma mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0006915;apoptotic process;IEA|GO:0008380;RNA splicing;IEA|GO:0016445;somatic diversification of immunoglobulins;IMP|GO:0043065;positive regulation of apoptotic process;IDA GO:0000974;Prp19 complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/CTNNBL1 https://www.uniprot.org/uniprot/Q8WYA6 https://www.ncbi.nlm.nih.gov/omim/?term=611537 http://www.informatics.jax.org/searchtool/Search.do?query=CTNNBL1&submit=Quick%0D%6742ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTNNBL1 20_50.701_78.701 Chr20:25016495-51804476 1.1 CTSA ENSG00000064601 cathepsin A chr20:44518783-44527459 This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015] GALACTOSIALIDOSIS Homozygous mutants show aberrant lysosomal storage, with vacuolization in specific cells of most tissues. An abormally flat face and reduced body size are apparent at birth, and health progressively deteriorates, with accompanying generalized edema, ataxia and tremors. Death occurs at ~12 months. Neutrophil degranulation GO:0006508;proteolysis;IEA|GO:0006687;glycosphingolipid metabolic process;TAS|GO:0006886;intracellular protein transport;TAS|GO:0031647;regulation of protein stability;IMP|GO:0043085;positive regulation of catalytic activity;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IBA|GO:1904714;regulation of chaperone-mediated autophagy;TAS|GO:1904715;negative regulation of chaperone-mediated autophagy;IGI GO:0005576;extracellular region;TAS|GO:0005654;nucleoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005783;endoplasmic reticulum;TAS|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA|GO:0098575;lumenal side of lysosomal membrane;TAS GO:0001948;glycoprotein binding;IEA|GO:0004180;carboxypeptidase activity;IEA|GO:0004185;serine-type carboxypeptidase activity;IEA|GO:0004308;exo-alpha-sialidase activity;TAS|GO:0008047;enzyme activator activity;TAS|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTSA https://www.uniprot.org/uniprot/P10619 https://hpo.jax.org/app/browse/search?q=CTSA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613111 http://www.informatics.jax.org/searchtool/Search.do?query=CTSA&submit=Quick%0D%1135ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTSA 16_129.974_134.474 Chr16:87933002-90108832 0.174 CTU2 ENSG00000174177 cytosolic thiouridylase subunit 2 chr16:88772871-88781794 This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] tRNA modification in the nucleus and cytosol GO:0002098;tRNA wobble uridine modification;IEA|GO:0002143;tRNA wobble position uridine thiolation;IBA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0032447;protein urmylation;IEA|GO:0034227;tRNA thio-modification;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IDA GO:0000049;tRNA binding;IEA|GO:0005515;protein binding;IPI|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016783;sulfurtransferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/CTU2 https://hpo.jax.org/app/browse/search?q=CTU2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617057 http://www.informatics.jax.org/searchtool/Search.do?query=CTU2&submit=Quick%0D%13486ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTU2 19_20.212_38.212 Chr19:6565245-15124834 0.429 CTXN1 ENSG00000178531 cortexin 1 chr19:7989372-7991051 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031224;intrinsic component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/CTXN1 https://www.ncbi.nlm.nih.gov/omim/?term=600135 http://www.informatics.jax.org/searchtool/Search.do?query=CTXN1&submit=Quick%0D%14195ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CTXN1 16_129.974_134.474 Chr16:87933002-90108832 0.174 CYBA ENSG00000051523 cytochrome b-245 alpha chain chr16:88709691-88717560 Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008] Helicobacter Infections|Peptic Ulcer; Glomerulonephritis, IGA; atherosclerosis, coronary endothelial function hypercholesterolemia lipids; Albuminuria|Atherosclerosis|Heart Diseases|Hypertension; Hypertension; cardiotoxicity, anthracycline-induced; angina; hypercholesterolaemia; null; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; vasodilation, flow-mediated; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; cardiovascular; Brain Infarction; peripheral arterial occlusive disease; diabetes, type 1; Asthma|; sarcoidosis tuberculosis; coronary endothelial vasodilator function; cerebral infarct, atherothrombotic; neuropathy; lipoprotein; cholesterol, LDL; insulin resistance; Chronic renal failure|Kidney Failure, Chronic; Meningeal Neoplasms|meningioma; lymphoma lymphoma, non-Hodgkin; cervical intraepithelial neoplasia grade 3; periodontitis; non-Hodgkin lymphoma; Atherosclerosis|Cardiovascular Diseases; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; systemic lupus erythematosus ; Type 2 Diabetes| edema | rosiglitazone; DNA Damage; oxidative stress ; vascular NAD(P)H oxidase activity; myocardial infarct; atherosclerosis, coronary; kidney failure, acute; Coronary Disease; Aggressive Periodontitis|Periodontitis, Juvenile; Apoplexy|Brain Ischemia|Stroke; cerebrovascular disease; sclerosis, systemic; Insulin Resistance|Obesity; oxidative stress; Sleep Apnea, Obstructive; coronary artery disease; atherosclerosis, coronary cardiovascular disease diabetes, type 2 hypertension metabolic syndrome obesity stroke, hemorrhagic stroke, ischemic; colorectal cancer; bladder cancer; cerebrovascular disease, ischemic; diabetes, type 1; nephropathy in other diseases; hypertension NADPH oxidase activity; Coronary Artery Disease; Kidney Failure, Chronic; atherosclerosis; Atherosclerosis|Carotid Artery Diseases|Diabetes Mellitus, Type 2|; Apoplexy|Brain Ischemia|Cerebral Infarction|Stroke; cytogenetic studies; candidiasis; Angina Pectoris|Myocardial Infarction|Obesity|Recurrence; Stomach Neoplasms; diabetes, type 2; kidney failure, chronic; cardiac death cardiovascular disease oxidative stress; Coronary Disease|Coronary heart disease|Hypercholesterolemia; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; agranulocytosis; Coronary Artery Disease|Recurrence; coronary artery spasm; Colitis, Ulcerative; Atherosclerosis|Diabetes Complications|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Myocardial Infarction; nephropathy, IgA; Cardiovascular Diseases|Coronary Artery Disease; atherosclerosis, coronary; peripheral vascular disease; hypertension vascular aging; Intracranial Arteriosclerosis|Stroke; Coronary Disease|Coronary heart disease; CHD; albumin excretion rate blood pressure, arterial cholesterol, HDL cholesterol, LDL glucose triglycerides weight; hypercholesterolemia; cholesterol; Hypertension|Pregnancy Complications, Cardiovascular; Cell Adhesion Molecules; coronary heart disease in younger individuals.; dyspepsia in Helicobacter pylori-infected Japanese individuals; Chronic Obstructive Pulmonary Disease; nephropathy, diabetic; normal variation; coronary heart disease; hypertension; NADPH Oxidase; Lymphoma, Non-Hodgkin; blood pressure, arterial oxidative stress tetralogy of Fallot; Acute Coronary Syndrome| Mice homozygous for an ENU-induced mutation exhibit defects in balance, absence of otoconia, and an inability of phagocytes to produce bacteria-destroying reactive oxygen species. Neutrophil degranulation GO:0001666;response to hypoxia;IEA|GO:0001938;positive regulation of endothelial cell proliferation;IEA|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0003106;negative regulation of glomerular filtration by angiotensin;IEA|GO:0006801;superoxide metabolic process;IMP|GO:0006954;inflammatory response;IMP|GO:0008217;regulation of blood pressure;IEA|GO:0014823;response to activity;IEA|GO:0014895;smooth muscle hypertrophy;IEA|GO:0017004;cytochrome complex assembly;IDA|GO:0030307;positive regulation of cell growth;IEA|GO:0031667;response to nutrient levels;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IDA|GO:0032930;positive regulation of superoxide anion generation;IEA|GO:0033864;positive regulation of NAD(P)H oxidase activity;IEA|GO:0034137;positive regulation of toll-like receptor 2 signaling pathway;IDA|GO:0034599;cellular response to oxidative stress;TAS|GO:0042493;response to drug;IEA|GO:0042554;superoxide anion generation;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0045087;innate immune response;IMP|GO:0045454;cell redox homeostasis;TAS|GO:0045730;respiratory burst;IMP|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0050665;hydrogen peroxide biosynthetic process;IEA|GO:0050766;positive regulation of phagocytosis;IDA|GO:0051279;regulation of release of sequestered calcium ion into cytosol;IEA|GO:0055114;oxidation-reduction process;IMP|GO:0070257;positive regulation of mucus secretion;IEA|GO:0070555;response to interleukin-1;IEA|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071480;cellular response to gamma radiation;IEA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:1900426;positive regulation of defense response to bacterium;IDA|GO:1903428;positive regulation of reactive oxygen species biosynthetic process;IDA|GO:1904044;response to aldosterone;IEA|GO:1904385;cellular response to angiotensin;IEA|GO:1904845;cellular response to L-glutamine;IEA GO:0001725;stress fiber;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005925;focal adhesion;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030141;secretory granule;TAS|GO:0030425;dendrite;IEA|GO:0030670;phagocytic vesicle membrane;TAS|GO:0035579;specific granule membrane;TAS|GO:0043020;NADPH oxidase complex;IDA|GO:0043025;neuronal cell body;IEA|GO:0070821;tertiary granule membrane;TAS|GO:0097038;perinuclear endoplasmic reticulum;IEA GO:0005515;protein binding;IPI|GO:0009055;electron carrier activity;TAS|GO:0016175;superoxide-generating NADPH oxidase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0017124;SH3 domain binding;IPI|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/CYBA https://www.uniprot.org/uniprot/P13498 https://hpo.jax.org/app/browse/search?q=CYBA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608508 http://www.informatics.jax.org/searchtool/Search.do?query=CYBA&submit=Quick%0D%941ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYBA 11_21.322_43.322 Chr11:11392976-25199292 1.269 CYP2R1 ENSG00000186104 cytochrome P450 family 2 subfamily R member 1 chr11:14899553-14913798 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008] Vitamin D; Vitamin D Deficiency; diabetes, type 1 Vitamin D; Asthma|; asthma; Diabetes, Gestational|Vitamin D Deficiency; diabetic nephropathy; multiple sclerosis Mice homozygous for a knock-out allele exhibit more than a 50% reduction in serum 25-hydroxyvitamin D3 levels but remain healthy and show normal serum 1alpha,25-dihydroxyvitamin D3 levels. Vitamins GO:0006766;vitamin metabolic process;TAS|GO:0010038;response to metal ion;IEA|GO:0010164;response to cesium ion;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0036378;calcitriol biosynthetic process from calciol;IEA|GO:0042359;vitamin D metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0030343;vitamin D3 25-hydroxylase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/CYP2R1 https://hpo.jax.org/app/browse/search?q=CYP2R1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608713 http://www.informatics.jax.org/searchtool/Search.do?query=CYP2R1&submit=Quick%0D%15567ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2R1 19_20.212_38.212 Chr19:6565245-15124834 0.429 DAND5 ENSG00000179284 DAN domain BMP antagonist family member 5 chr19:13075973-13085567 This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to bind Nodal and to inhibit the Nodal signaling pathway which patterns left/right body asymmetry. [provided by RefSeq, Jul 2008] Homozygous null mice display partial neonatal lethality with left pulmonary isomerism, abnormal heart looping, atrial and ventricular septal defects and thoracic situs inversus and surviving pups display partial premature death with abdominal organ position abnormalities. Regulation of signaling by NODAL GO:0003140;determination of left/right asymmetry in lateral mesoderm;IEA|GO:0003281;ventricular septum development;IEA|GO:0003283;atrial septum development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0023019;signal transduction involved in regulation of gene expression;IBA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA|GO:0035582;sequestering of BMP in extracellular matrix;IBA|GO:0038101;sequestering of nodal from receptor via nodal binding;IEA|GO:0061371;determination of heart left/right asymmetry;IEA|GO:1900108;negative regulation of nodal signaling pathway;IEA|GO:1900176;negative regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry;IBA GO:0005576;extracellular region;NAS|GO:0005615;extracellular space;IBA GO:0016015;morphogen activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DAND5 https://www.ncbi.nlm.nih.gov/omim/?term=609068 http://www.informatics.jax.org/searchtool/Search.do?query=DAND5&submit=Quick%0D%14319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DAND5 16_129.974_134.474 Chr16:87933002-90108832 0.174 DBNDD1 ENSG00000003249 dysbindin domain containing 1 chr16:90071273-90086536 Suntan GO:0005737;cytoplasm;IEA http://www.genecards.org/index.php?path=/Search/keyword/DBNDD1 https://www.uniprot.org/uniprot/Q9H9R9 http://www.informatics.jax.org/searchtool/Search.do?query=DBNDD1&submit=Quick%0D%303ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DBNDD1 20_50.701_78.701 Chr20:25016495-51804476 1.1 DBNDD2 ENSG00000244274 dysbindin domain containing 2 chr20:44034697-44039250 GO:0006469;negative regulation of protein kinase activity;IDA GO:0005737;cytoplasm;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DBNDD2 https://www.ncbi.nlm.nih.gov/omim/?term=611453 http://www.informatics.jax.org/searchtool/Search.do?query=DBNDD2&submit=Quick%0D%19838ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DBNDD2 11_21.322_43.322 Chr11:11392976-25199292 1.269 DBX1 ENSG00000109851 developing brain homeobox 1 chr11:20177701-20182159 Waist-Hip Ratio; Metabolism Mice homozygous for disruptions of this gene die at birth. V0 interneurons develop as V1 or dl6 interneurons. GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0021521;ventral spinal cord interneuron specification;IEA GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DBX1 https://www.uniprot.org/uniprot/A6NMT0 http://www.informatics.jax.org/searchtool/Search.do?query=DBX1&submit=Quick%0D%3893ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DBX1 19_20.212_38.212 Chr19:6565245-15124834 0.429 DCAF15 ENSG00000132017 DDB1 and CUL4 associated factor 15 chr19:14063304-14072254 GO:0016567;protein ubiquitination;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCAF15 https://www.uniprot.org/uniprot/Q66K64 http://www.informatics.jax.org/searchtool/Search.do?query=DCAF15&submit=Quick%0D%6620ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCAF15 12_78.016_106.016 Chr12:64973018-92996828 1.299 DCN ENSG00000011465 decorin chr12:91539025-91576900 This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. This protein plays a role in collagen fibril assembly. Binding of this protein to multiple cell surface receptors mediates its role in tumor suppression, including a stimulatory effect on autophagy and inflammation and an inhibitory effect on angiogenesis and tumorigenesis. This gene and the related gene biglycan are thought to be the result of a gene duplication. Mutations in this gene are associated with congenital stromal corneal dystrophy in human patients. [provided by RefSeq, Nov 2015] Death, Sudden, Cardiac; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 1; breast cancer ; kidney aging; Cholesterol, LDL; Bone Mineral Density; renal disease; Heart Failure; Metabolism; Body Height; Cholesterol; Alcoholism; ovarian cancer; Alzheimer Disease; Body Mass Index; myopia; blood pressure; Myopia, Degenerative Mutant mice have fragile skin and exhibit abnormal collagen morphology in skin and tendons, supporting this gene's role in regulating collagen fiber formation. Defective B3GALT6 causes EDSP2 and SEMDJL1 GO:0001822;kidney development;IEA|GO:0001890;placenta development;IEA|GO:0006469;negative regulation of protein kinase activity;IBA|GO:0007519;skeletal muscle tissue development;IEA|GO:0007568;aging;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0010508;positive regulation of autophagy;IDA|GO:0010596;negative regulation of endothelial cell migration;IDA|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;IDA|GO:0016239;positive regulation of macroautophagy;IDA|GO:0016525;negative regulation of angiogenesis;IDA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0019800;peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0030206;chondroitin sulfate biosynthetic process;TAS|GO:0030207;chondroitin sulfate catabolic process;TAS|GO:0030208;dermatan sulfate biosynthetic process;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0042060;wound healing;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IGI|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0051901;positive regulation of mitochondrial depolarization;IGI|GO:0090141;positive regulation of mitochondrial fission;IGI|GO:1900747;negative regulation of vascular endothelial growth factor signaling pathway;IDA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005589;collagen type VI trimer;IEA|GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IBA|GO:0005796;Golgi lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS GO:0003723;RNA binding;IDA|GO:0004860;protein kinase inhibitor activity;IBA|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IEA|GO:0005539;glycosaminoglycan binding;IEA|GO:0047485;protein N-terminus binding;IEA|GO:0050840;extracellular matrix binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DCN https://www.uniprot.org/uniprot/P07585 https://hpo.jax.org/app/browse/search?q=DCN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=125255 http://www.informatics.jax.org/searchtool/Search.do?query=DCN&submit=Quick%0D%562ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DCN 20_50.701_78.701 Chr20:25016495-51804476 1.1 DDX27 ENSG00000124228 DEAD-box helicase 27 chr20:47835884-47860614 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, the function of which has not been determined. [provided by RefSeq, Jul 2008] Attention Deficit Disorder with Hyperactivity; Iron GO:0006364;rRNA processing;IEA|GO:0010501;RNA secondary structure unwinding;IBA|GO:0042254;ribosome biogenesis;IEA GO:0005634;nucleus;IEA|GO:0005694;chromosome;IDA|GO:0005730;nucleolus;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DDX27 https://www.uniprot.org/uniprot/Q96GQ7 https://www.ncbi.nlm.nih.gov/omim/?term=616621 http://www.informatics.jax.org/searchtool/Search.do?query=DDX27&submit=Quick%0D%5628ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX27 19_20.212_38.212 Chr19:6565245-15124834 0.429 DDX39A ENSG00000123136 DExD-box helicase 39A chr19:14519631-14530192 This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is thought to play a role in the prognosis of patients with gastrointestinal stromal tumors. A pseudogene of this gene is present on chromosome 13. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] mRNA 3'-end processing GO:0000398;mRNA splicing, via spliceosome;IGI|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;IGI|GO:0006974;cellular response to DNA damage stimulus;IBA|GO:0008380;RNA splicing;IEA|GO:0010468;regulation of gene expression;IBA|GO:0010501;RNA secondary structure unwinding;IBA|GO:0031124;mRNA 3'-end processing;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IBA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA|GO:0016607;nuclear speck;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;EXP|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DDX39A https://www.uniprot.org/uniprot/O00148 http://www.informatics.jax.org/searchtool/Search.do?query=DDX39A&submit=Quick%0D%5490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DDX39A 16_129.974_134.474 Chr16:87933002-90108832 0.174 DEF8 ENSG00000140995 differentially expressed in FDCP 8 homolog chr16:90014333-90034468 GO:0035556;intracellular signal transduction;IEA GO:0005622;intracellular;IEA GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DEF8 https://www.uniprot.org/uniprot/Q6ZN54 http://www.informatics.jax.org/searchtool/Search.do?query=DEF8&submit=Quick%0D%8107ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEF8 20_50.701_78.701 Chr20:25016495-51804476 1.1 DEFB115 ENSG00000215547 defensin beta 115 chr20:29845467-29847435 Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014] Defensins GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/DEFB115 http://www.informatics.jax.org/searchtool/Search.do?query=DEFB115&submit=Quick%0D%18347ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB115 20_50.701_78.701 Chr20:25016495-51804476 1.1 DEFB116 ENSG00000215545 defensin beta 116 chr20:29891015-29896388 Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014] Defensins GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/DEFB116 http://www.informatics.jax.org/searchtool/Search.do?query=DEFB116&submit=Quick%0D%18346ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB116 20_50.701_78.701 Chr20:25016495-51804476 1.1 DEFB118 ENSG00000131068 defensin beta 118 chr20:29956421-29961726 This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. Expression of this gene is regulated by androgen, and the encoded protein binds to sperm and exhibits antibacterial activity against E. coli. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. [provided by RefSeq, Nov 2014] Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma Defensins GO:0006952;defense response;IEA|GO:0007160;cell-matrix adhesion;NAS|GO:0007283;spermatogenesis;NAS|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;TAS GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/DEFB118 https://www.uniprot.org/uniprot/Q96PH6 https://www.ncbi.nlm.nih.gov/omim/?term=607650 http://www.informatics.jax.org/searchtool/Search.do?query=DEFB118&submit=Quick%0D%6490ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB118 20_50.701_78.701 Chr20:25016495-51804476 1.1 DEFB119 ENSG00000180483 defensin beta 119 chr20:29964967-29978406 This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Meningeal Neoplasms|meningioma Defensins GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/DEFB119 https://www.ncbi.nlm.nih.gov/omim/?term=615997 http://www.informatics.jax.org/searchtool/Search.do?query=DEFB119&submit=Quick%0D%14488ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB119 20_50.701_78.701 Chr20:25016495-51804476 1.1 DEFB121 ENSG00000204548 defensin beta 121 chr20:29992648-30000641 This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] Defensins GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA GO:0005576;extracellular region;IEA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DEFB121 https://www.ncbi.nlm.nih.gov/omim/?term=616075 http://www.informatics.jax.org/searchtool/Search.do?query=DEFB121&submit=Quick%0D%17337ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB121 20_50.701_78.701 Chr20:25016495-51804476 1.1 DEFB123 ENSG00000180424 defensin beta 123 chr20:30028322-30038060 Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2014] Defensins GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/DEFB123 https://www.ncbi.nlm.nih.gov/omim/?term=616076 http://www.informatics.jax.org/searchtool/Search.do?query=DEFB123&submit=Quick%0D%14478ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB123 20_50.701_78.701 Chr20:25016495-51804476 1.1 DEFB124 ENSG00000180383 defensin beta 124 chr20:30053309-30064560 Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. The encoded protein may serve to enhance innate immunity in the prostate. [provided by RefSeq, Nov 2014] Defensins GO:0006952;defense response;IEA|GO:0042742;defense response to bacterium;IEA|GO:0045087;innate immune response;IBA GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/DEFB124 http://www.informatics.jax.org/searchtool/Search.do?query=DEFB124&submit=Quick%0D%14473ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DEFB124 22_57.194_74.694 Chr22:45430165-51215481 0.519 DENND6B ENSG00000205593 DENN domain containing 6B chr22:50747459-50765489 RAB GEFs exchange GTP for GDP on RABs GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0055037;recycling endosome;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/DENND6B http://www.informatics.jax.org/searchtool/Search.do?query=DENND6B&submit=Quick%0D%17536ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DENND6B 19_20.212_38.212 Chr19:6565245-15124834 0.429 DHPS ENSG00000095059 deoxyhypusine synthase chr19:12786531-12792716 This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011] Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E8.5. Hypusine synthesis from eIF5A-lysine GO:0006412;translation;TAS|GO:0008216;spermidine metabolic process;IDA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0008612;peptidyl-lysine modification to peptidyl-hypusine;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042593;glucose homeostasis;IEA|GO:0046203;spermidine catabolic process;IEA|GO:0051289;protein homotetramerization;IEA GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0034038;deoxyhypusine synthase activity;EXP|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DHPS https://www.uniprot.org/uniprot/P49366 https://www.ncbi.nlm.nih.gov/omim/?term=600944 http://www.informatics.jax.org/searchtool/Search.do?query=DHPS&submit=Quick%0D%2233ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DHPS 20_50.701_78.701 Chr20:25016495-51804476 1.1 DHX35 ENSG00000101452 DEAH-box helicase 35 chr20:37590942-37668366 DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010] Tobacco Use Disorder GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006396;RNA processing;IBA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA GO:0005681;spliceosomal complex;IEA|GO:0005737;cytoplasm;IBA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0008026;ATP-dependent helicase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DHX35 https://www.uniprot.org/uniprot/Q9H5Z1 http://www.informatics.jax.org/searchtool/Search.do?query=DHX35&submit=Quick%0D%2747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DHX35 11_21.322_43.322 Chr11:11392976-25199292 1.269 DKK3 ENSG00000050165 dickkopf WNT signaling pathway inhibitor 3 chr11:11984653-12031316 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Polycystic Kidney, Autosomal Dominant; colorectal cancer; Bone Mineral Density; Carcinoma, Renal Cell|Kidney Neoplasms Mice homozygous for a knock-out allele are viable, fertile and euthyroid but exhibit hyperactivity, a slight but significant decrease in the frequency of natural killer cells, and significantly increased IgM, hemoglobin, and hematocrit levels. GO:0007275;multicellular organism development;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0017015;regulation of transforming growth factor beta receptor signaling pathway;NAS|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0030325;adrenal gland development;IEP|GO:0032348;negative regulation of aldosterone biosynthetic process;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IDA|GO:1902613;negative regulation of anti-Mullerian hormone signaling pathway;TAS|GO:2000065;negative regulation of cortisol biosynthetic process;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS http://www.genecards.org/index.php?path=/Search/keyword/DKK3 https://www.uniprot.org/uniprot/Q9UBP4 https://www.ncbi.nlm.nih.gov/omim/?term=605416 http://www.informatics.jax.org/searchtool/Search.do?query=DKK3&submit=Quick%0D%922ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DKK3 20_50.701_78.701 Chr20:25016495-51804476 1.1 DLGAP4 ENSG00000080845 DLG associated protein 4 chr20:34894258-35157040 The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] several psychiatric disorders Mice homozygous for a null allele display impaired dendrite morphology, increased mean postsynaptic density area, and impaired vocal communication and social interaction. Neurexins and neuroligins GO:0023052;signaling;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0045202;synapse;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DLGAP4 https://www.uniprot.org/uniprot/Q9Y2H0 https://www.ncbi.nlm.nih.gov/omim/?term=616191 http://www.informatics.jax.org/searchtool/Search.do?query=DLGAP4&submit=Quick%0D%1748ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DLGAP4 19_20.212_38.212 Chr19:6565245-15124834 0.429 DNAJB1 ENSG00000132002 DnaJ heat shock protein family (Hsp40) member B1 chr19:14625582-14640582 This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] cognitive trait; Aging/ Telomere Length; asthma; HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a knock-out allele are viable, fertile, and overtly normal; however, homozygous null peritoneal macrophages display impaired thermotolerance in the early (but not in the late) phase after mild heat treatment. MAPK6/MAPK4 signaling GO:0006457;protein folding;IEA|GO:0006986;response to unfolded protein;TAS|GO:0032781;positive regulation of ATPase activity;IDA|GO:0051085;chaperone mediated protein folding requiring cofactor;IEA|GO:0070389;chaperone cofactor-dependent protein refolding;IDA|GO:0090084;negative regulation of inclusion body assembly;IDA|GO:0097201;negative regulation of transcription from RNA polymerase II promoter in response to stress;IDA|GO:1900034;regulation of cellular response to heat;TAS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0001106;RNA polymerase II transcription corepressor activity;IDA|GO:0001671;ATPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0030544;Hsp70 protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051082;unfolded protein binding;IDA|GO:0051087;chaperone binding;IPI|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DNAJB1 https://www.uniprot.org/uniprot/P25685 https://www.ncbi.nlm.nih.gov/omim/?term=604572 http://www.informatics.jax.org/searchtool/Search.do?query=DNAJB1&submit=Quick%0D%6614ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNAJB1 19_20.212_38.212 Chr19:6565245-15124834 0.429 DNASE2 ENSG00000105612 deoxyribonuclease 2, lysosomal chr19:12986025-12992282 This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008] Arthritis, Rheumatoid|; lupus erythematosus Targeted mutations of this gene result in perinatal death, anemia, and impaired definitive erythropoiesis in the fetal liver. Homozygotes for one null mutation display diaphragm abnormalities and asphyxiation, as well as a specific defect in the phagocytic phase of apoptosis. Lysosome Vesicle Biogenesis GO:0000737;DNA catabolic process, endonucleolytic;IEA|GO:0006259;DNA metabolic process;IEA|GO:0006308;DNA catabolic process;IEA|GO:0006309;apoptotic DNA fragmentation;IBA|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0030218;erythrocyte differentiation;IEA GO:0005622;intracellular;IBA|GO:0005764;lysosome;TAS|GO:0070062;extracellular exosome;IDA GO:0003677;DNA binding;TAS|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004520;endodeoxyribonuclease activity;IEA|GO:0004531;deoxyribonuclease II activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNASE2 https://www.uniprot.org/uniprot/O00115 https://www.ncbi.nlm.nih.gov/omim/?term=126350 http://www.informatics.jax.org/searchtool/Search.do?query=DNASE2&submit=Quick%0D%3341ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNASE2 19_20.212_38.212 Chr19:6565245-15124834 0.429 DNM2 ENSG00000079805 dynamin 2 chr19:10828755-10944164 Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010] Bulimia; Coronary Disease; Alzheimer's disease; breast cancer; Lipoproteins, LDL Mice homozygous for a targeted allele die prior to E8-E12. Mice heterozygous for a knock-out allele exhibit muscle atrophy and weakness, intermyofibrillar disorganization, and centrally localized mitochondria and sarcoplasmic reticulum. Clathrin-mediated endocytosis GO:0000086;G2/M transition of mitotic cell cycle;NAS|GO:0000266;mitochondrial fission;IBA|GO:0002031;G-protein coupled receptor internalization;IEA|GO:0003281;ventricular septum development;IEA|GO:0003374;dynamin family protein polymerization involved in mitochondrial fission;IBA|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006893;Golgi to plasma membrane transport;IEA|GO:0006897;endocytosis;IEA|GO:0006898;receptor-mediated endocytosis;ISS|GO:0006909;phagocytosis;IEA|GO:0007165;signal transduction;NAS|GO:0007283;spermatogenesis;IEA|GO:0009416;response to light stimulus;IEA|GO:0010592;positive regulation of lamellipodium assembly;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0030516;regulation of axon extension;ISS|GO:0031623;receptor internalization;IMP|GO:0033572;transferrin transport;IMP|GO:0035020;regulation of Rac protein signal transduction;IEA|GO:0035904;aorta development;IEA|GO:0042220;response to cocaine;IEA|GO:0043065;positive regulation of apoptotic process;NAS|GO:0044351;macropinocytosis;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0045807;positive regulation of endocytosis;IEA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0048489;synaptic vesicle transport;NAS|GO:0048812;neuron projection morphogenesis;ISS|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050999;regulation of nitric-oxide synthase activity;TAS|GO:0060976;coronary vasculature development;IEA|GO:0061024;membrane organization;TAS|GO:0061025;membrane fusion;IBA|GO:0071245;cellular response to carbon monoxide;IEA|GO:0071481;cellular response to X-ray;IEA|GO:0071732;cellular response to nitric oxide;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IEA|GO:1902856;negative regulation of non-motile cilium assembly;IEA|GO:1903351;cellular response to dopamine;IEA|GO:1903358;regulation of Golgi organization;IEA|GO:1903408;positive regulation of sodium:potassium-exchanging ATPase activity;IEA|GO:1903526;negative regulation of membrane tubulation;IDA GO:0000139;Golgi membrane;TAS|GO:0001891;phagocytic cup;IEA|GO:0001917;photoreceptor inner segment;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005802;trans-Golgi network;IEA|GO:0005813;centrosome;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IEA|GO:0005925;focal adhesion;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030054;cell junction;IEA|GO:0030426;growth cone;ISS|GO:0030496;midbody;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0030670;phagocytic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031966;mitochondrial membrane;IBA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0043234;protein complex;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IDA|GO:0045334;clathrin-coated endocytic vesicle;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0008017;microtubule binding;NAS|GO:0016787;hydrolase activity;IEA|GO:0017124;SH3 domain binding;IDA|GO:0019899;enzyme binding;NAS|GO:0019901;protein kinase binding;IEA|GO:0031749;D2 dopamine receptor binding;IEA|GO:0032403;protein complex binding;IEA|GO:0036312;phosphatidylinositol 3-kinase regulatory subunit binding;IEA|GO:0050699;WW domain binding;IEA|GO:0050998;nitric-oxide synthase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNM2 https://www.uniprot.org/uniprot/P50570 https://hpo.jax.org/app/browse/search?q=DNM2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602378 http://www.informatics.jax.org/searchtool/Search.do?query=DNM2&submit=Quick%0D%1712ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNM2 19_20.212_38.212 Chr19:6565245-15124834 0.429 DNMT1 ENSG00000130816 DNA methyltransferase 1 chr19:10244021-10341962 This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] subtelomeric hypomethylation; arsnic exposure; colorectal cancer; hunger and satiety; Stomach Neoplasms; benzo[a]pyrene diol epoxide; breast cancer ; epithelial ovarian cancer ; Spinal Dysraphism; Breast Neoplasms|Carcinoma, Ductal, Breast|Invasive Ductal Breast Carcinoma|Mammary Neoplasms; lupus erythematosus Mutations causing partial or severe loss of function were homozygous lethal by embryonic day 9.5, with lack of appropriate genomic imprinting observed at several loci. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006306;DNA methylation;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007265;Ras protein signal transduction;IMP|GO:0010216;maintenance of DNA methylation;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016458;gene silencing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0032776;DNA methylation on cytosine;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043045;DNA methylation involved in embryo development;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0090309;positive regulation of methylation-dependent chromatin silencing;IMP|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006306;DNA methylation;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007265;Ras protein signal transduction;IMP|GO:0010216;maintenance of DNA methylation;IDA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016458;gene silencing;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0032259;methylation;IEA|GO:0032776;DNA methylation on cytosine;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043045;DNA methylation involved in embryo development;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0090309;positive regulation of methylation-dependent chromatin silencing;IMP GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005657;replication fork;IEA|GO:0005721;pericentric heterochromatin;IEA GO:0003677;DNA binding;IDA|GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IEA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0008327;methyl-CpG binding;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:1990841;promoter-specific chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DNMT1 https://www.uniprot.org/uniprot/P26358 https://hpo.jax.org/app/browse/search?q=DNMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=126375 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT1&submit=Quick%0D%142ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT1 20_50.701_78.701 Chr20:25016495-51804476 1.1 DNMT3B ENSG00000088305 DNA methyltransferase 3 beta chr20:31350191-31397162 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] overall effect; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; hunger and satiety; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal adenocarcinoma; Adenomatous Polyps|Colonic Polyps; epithelial ovarian cancer ; GSTM1 methylation infertility, male; head and neck cancer; breast cancer ; subtelomeric hypomethylation; Purpura, Thrombocytopenic, Idiopathic; colorectal adenomatous polyps and adenocarcinoma; leukemia, adult acute; colorectal cancer; lung cancer; breast cancer estrogen progesterone; rheumatoid arthritis; Schizophrenia; healthy oldest-old; Carcinoma, Hepatocellular|Liver Neoplasms; benzo[a]pyrene diol epoxide; gastric cancer; arsnic exposure; prostate cancer; lung cancer ; Carcinoma|Esophageal Neoplasms; Biliary calculi|Carcinoma|gallbladder neoplasm|Gallbladder Neoplasms|Gallstones; stomach cancer; breast cancer; Marijuana Abuse|Psychoses, Substance-Induced Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. DNA methylation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006306;DNA methylation;NAS|GO:0009636;response to toxic substance;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0014823;response to activity;IEA|GO:0031000;response to caffeine;IEA|GO:0032259;methylation;IEA|GO:0032355;response to estradiol;IEA|GO:0033189;response to vitamin A;IEA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045814;negative regulation of gene expression, epigenetic;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051571;positive regulation of histone H3-K4 methylation;IMP|GO:0051573;negative regulation of histone H3-K9 methylation;IMP|GO:0071455;cellular response to hyperoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090116;C-5 methylation of cytosine;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IDA|GO:0003886;DNA (cytosine-5-)-methyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0009008;DNA-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0042826;histone deacetylase binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DNMT3B https://www.uniprot.org/uniprot/Q9UBC3 https://hpo.jax.org/app/browse/search?q=DNMT3B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602900 http://www.informatics.jax.org/searchtool/Search.do?query=DNMT3B&submit=Quick%0D%85ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMT3B 20_50.701_78.701 Chr20:25016495-51804476 1.1 DNTTIP1 ENSG00000101457 deoxynucleotidyltransferase terminal interacting protein 1 chr20:44420576-44440066 DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM, Mar 2008] Lipoproteins, HDL GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA GO:0003677;DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0031491;nucleosome binding;IDA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/DNTTIP1 https://www.uniprot.org/uniprot/Q9H147 https://www.ncbi.nlm.nih.gov/omim/?term=611388 http://www.informatics.jax.org/searchtool/Search.do?query=DNTTIP1&submit=Quick%0D%2748ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DNTTIP1 19_20.212_38.212 Chr19:6565245-15124834 0.429 DOCK6 ENSG00000130158 dedicator of cytokinesis 6 chr19:11309971-11373157 This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011] Cholesterol, HDL; Coronary Disease; Cholesterol; Cholesterol, LDL Factors involved in megakaryocyte development and platelet production GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007596;blood coagulation;TAS|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/DOCK6 https://www.uniprot.org/uniprot/Q96HP0 https://hpo.jax.org/app/browse/search?q=DOCK6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614194 http://www.informatics.jax.org/searchtool/Search.do?query=DOCK6&submit=Quick%0D%6319ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DOCK6 16_129.974_134.474 Chr16:87933002-90108832 0.174 DPEP1 ENSG00000015413 dipeptidase 1 (renal) chr16:89679716-89704839 The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2012] homocysteine Mice homozygous for disruption of this gene ar phenotypically normal although defects have been noted in the conversion of leukotriene D4 to leukotrience E4. Aflatoxin activation and detoxification GO:0006508;proteolysis;IEA|GO:0006691;leukotriene metabolic process;TAS|GO:0006749;glutathione metabolic process;TAS|GO:0006805;xenobiotic metabolic process;TAS|GO:0006915;apoptotic process;IEA|GO:0016999;antibiotic metabolic process;IDA|GO:0030336;negative regulation of cell migration;IMP|GO:0035690;cellular response to drug;IDA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0050667;homocysteine metabolic process;IDA|GO:0071277;cellular response to calcium ion;ISS|GO:0071732;cellular response to nitric oxide;ISS|GO:0072340;cellular lactam catabolic process;TAS GO:0005615;extracellular space;ISS|GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IDA|GO:0031225;anchored component of membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008235;metalloexopeptidase activity;TAS|GO:0008237;metallopeptidase activity;IEA|GO:0008239;dipeptidyl-peptidase activity;IEA|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016805;dipeptidase activity;IEA|GO:0034235;GPI anchor binding;ISS|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IMP|GO:0046872;metal ion binding;IEA|GO:0070573;metallodipeptidase activity;IDA|GO:0072341;modified amino acid binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DPEP1 https://www.uniprot.org/uniprot/P16444 https://www.ncbi.nlm.nih.gov/omim/?term=179780 http://www.informatics.jax.org/searchtool/Search.do?query=DPEP1&submit=Quick%0D%618ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPEP1 20_50.701_78.701 Chr20:25016495-51804476 1.1 DPM1 ENSG00000000419 dolichyl-phosphate mannosyltransferase subunit 1, catalytic chr20:49551404-49575092 Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015] HIV Infections|[X]Human immunodeficiency virus disease Synthesis of dolichyl-phosphate mannose GO:0006486;protein glycosylation;IEA|GO:0006506;GPI anchor biosynthetic process;IDA|GO:0018279;protein N-linked glycosylation via asparagine;TAS|GO:0019348;dolichol metabolic process;IDA|GO:0019673;GDP-mannose metabolic process;IEA|GO:0035268;protein mannosylation;IDA|GO:0035269;protein O-linked mannosylation;IDA|GO:0097502;mannosylation;IEA GO:0005634;nucleus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0033185;dolichol-phosphate-mannose synthase complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IEA GO:0004169;dolichyl-phosphate-mannose-protein mannosyltransferase activity;IDA|GO:0004582;dolichyl-phosphate beta-D-mannosyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0005537;mannose binding;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0043178;alcohol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/DPM1 https://www.uniprot.org/uniprot/O60762 https://hpo.jax.org/app/browse/search?q=DPM1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603503 http://www.informatics.jax.org/searchtool/Search.do?query=DPM1&submit=Quick%0D%271ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DPM1 20_50.701_78.701 Chr20:25016495-51804476 1.1 DSN1 ENSG00000149636 DSN1 homolog, MIS12 kinetochore complex component chr20:35380194-35402221 This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009] Mitotic Prometaphase GO:0007049;cell cycle;IEA|GO:0007059;chromosome segregation;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0043312;neutrophil degranulation;TAS|GO:0051301;cell division;IEA GO:0000444;MIS12/MIND type complex;IEA|GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005829;cytosol;IDA|GO:0035578;azurophil granule lumen;TAS GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/DSN1 https://www.uniprot.org/uniprot/Q9H410 https://www.ncbi.nlm.nih.gov/omim/?term=609175 http://www.informatics.jax.org/searchtool/Search.do?query=DSN1&submit=Quick%0D%9266ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DSN1 20_50.701_78.701 Chr20:25016495-51804476 1.1 DUSP15 ENSG00000149599 dual specificity phosphatase 15 chr20:30435440-30458550 The protein encoded by this gene has both protein-tyrosine phophatase activity and serine/threonine-specific phosphatase activity, and therefore is known as a dual specificity phosphatase. This protein may function in the differentiation of oligodendrocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] GO:0006470;protein dephosphorylation;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;IBA|GO:0016311;dephosphorylation;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042127;regulation of cell proliferation;IBA|GO:0046330;positive regulation of JNK cascade;IBA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/DUSP15 https://www.uniprot.org/uniprot/Q9H1R2 https://www.ncbi.nlm.nih.gov/omim/?term=616776 http://www.informatics.jax.org/searchtool/Search.do?query=DUSP15&submit=Quick%0D%9261ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DUSP15 12_78.016_106.016 Chr12:64973018-92996828 1.299 DUSP6 ENSG00000139318 dual specificity phosphatase 6 chr12:89741009-89747048 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014] Atrial Fibrillation; affective disorder; Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic; Bipolar Disorder; longevity Mice homozygous or heterozygous for a null mutation display partial penetrance of postnatal lethality, reduced body weight, and abnormal growth plate morphology. Negative regulation of MAPK pathway GO:0000165;MAPK cascade;TAS|GO:0000187;activation of MAPK activity;TAS|GO:0000188;inactivation of MAPK activity;IDA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0009953;dorsal/ventral pattern formation;IBA|GO:0010033;response to organic substance;IEA|GO:0010942;positive regulation of cell death;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016311;dephosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IDA|GO:0040036;regulation of fibroblast growth factor receptor signaling pathway;IBA|GO:0042493;response to drug;IEA|GO:0042663;regulation of endodermal cell fate specification;IBA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0051409;response to nitrosative stress;IEP|GO:0060420;regulation of heart growth;IBA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP|GO:0070848;response to growth factor;IEA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0017017;MAP kinase tyrosine/serine/threonine phosphatase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/DUSP6 https://www.uniprot.org/uniprot/Q16828 https://hpo.jax.org/app/browse/search?q=DUSP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602748 http://www.informatics.jax.org/searchtool/Search.do?query=DUSP6&submit=Quick%0D%7869ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DUSP6 20_50.701_78.701 Chr20:25016495-51804476 1.1 DYNLRB1 ENSG00000125971 dynein light chain roadblock-type 1 chr20:33104214-33128762 This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18. [provided by RefSeq, Aug 2013] Intraflagellar transport GO:0006810;transport;IEA|GO:0007018;microtubule-based movement;NAS|GO:0007632;visual behavior;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;ISS|GO:0005874;microtubule;IEA|GO:0005929;cilium;TAS|GO:0016020;membrane;IDA|GO:0030286;dynein complex;IEA|GO:0097542;ciliary tip;TAS GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005515;protein binding;IPI|GO:0045505;dynein intermediate chain binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/DYNLRB1 https://www.uniprot.org/uniprot/Q9NP97 https://www.ncbi.nlm.nih.gov/omim/?term=607167 http://www.informatics.jax.org/searchtool/Search.do?query=DYNLRB1&submit=Quick%0D%5892ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNLRB1 16_101.974_110.974 Chr16:79461830-82833302 0.225 DYNLRB2 ENSG00000168589 dynein light chain roadblock-type 2 chr16:80574631-80584657 high-density lipoprotein cholesterol ; Tobacco Use Disorder Intraflagellar transport GO:0006810;transport;IEA|GO:0007018;microtubule-based movement;IBA|GO:0035735;intraciliary transport involved in cilium assembly;TAS GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005868;cytoplasmic dynein complex;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;TAS|GO:0030286;dynein complex;IBA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;NAS|GO:0045505;dynein intermediate chain binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/DYNLRB2 https://www.ncbi.nlm.nih.gov/omim/?term=607168 http://www.informatics.jax.org/searchtool/Search.do?query=DYNLRB2&submit=Quick%0D%12305ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DYNLRB2 12_78.016_106.016 Chr12:64973018-92996828 1.299 DYRK2 ENSG00000127334 dual specificity tyrosine phosphorylation regulated kinase 2 chr12:68042118-68059186 DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. [provided by RefSeq, Jul 2008] Hand Strength; Respiratory Function Tests; Neuroblastoma Regulation of TP53 Activity through Phosphorylation GO:0006468;protein phosphorylation;TAS|GO:0006915;apoptotic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEP|GO:0007224;smoothened signaling pathway;IMP|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0042771;intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0051534;negative regulation of NFAT protein import into nucleus;IMP|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0000151;ubiquitin ligase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030145;manganese ion binding;IDA|GO:0043130;ubiquitin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/DYRK2 https://www.uniprot.org/uniprot/Q92630 https://www.ncbi.nlm.nih.gov/omim/?term=603496 http://www.informatics.jax.org/searchtool/Search.do?query=DYRK2&submit=Quick%0D%6024ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=DYRK2 20_50.701_78.701 Chr20:25016495-51804476 1.1 E2F1 ENSG00000101412 E2F transcription factor 1 chr20:32263489-32274210 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008] Bone Mineral Density; ovarian cancer; Lung carcinomas; epithelial ovarian cancer Homozygous mutants show defective T lymphocyte development, impaired pancreatic growth and beta cell function, altered glucose homeostasis, testicular atrophy, salivary gland and adipose tissue defects, and increased tumor induction. Activation of E2F1 target genes at G1/S GO:0000077;DNA damage checkpoint;IMP|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0007283;spermatogenesis;IEA|GO:0008630;intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:0010628;positive regulation of gene expression;IDA|GO:0030900;forebrain development;IEA|GO:0043276;anoikis;IEA|GO:0043392;negative regulation of DNA binding;IDA|GO:0045599;negative regulation of fat cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0048146;positive regulation of fibroblast proliferation;IMP|GO:0048255;mRNA stabilization;IDA|GO:0051726;regulation of cell cycle;IEA|GO:0070345;negative regulation of fat cell proliferation;IEA|GO:0071398;cellular response to fatty acid;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071466;cellular response to xenobiotic stimulus;IEA|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IMP|GO:0072332;intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1990086;lens fiber cell apoptotic process;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005813;centrosome;IDA|GO:0035189;Rb-E2F complex;IDA GO:0001047;core promoter binding;IDA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/E2F1 https://www.uniprot.org/uniprot/Q01094 https://www.ncbi.nlm.nih.gov/omim/?term=189971 http://www.informatics.jax.org/searchtool/Search.do?query=E2F1&submit=Quick%0D%2730ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=E2F1 12_78.016_106.016 Chr12:64973018-92996828 1.299 E2F7 ENSG00000165891 E2F transcription factor 7 chr12:77415027-77459360 E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008] Bone Density; Brain; Smoking; Subcutaneous Fat; Echocardiography; Chronic renal failure|Kidney Failure, Chronic; Hemoglobins; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Iron; Celiac Disease|; Macular Degeneration; Atrial Natriuretic Factor; Central Nervous System; Erythrocytes; Blood Coagulation Factors; Creatinine; Blood Pressure Mice homozygous for a knock-out allele develop normally through puberty and survive to old age. TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001890;placenta development;IEA|GO:0002040;sprouting angiogenesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0030330;DNA damage response, signal transduction by p53 class mediator;IDA|GO:0032466;negative regulation of cytokinesis;IEA|GO:0032877;positive regulation of DNA endoreduplication;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0060707;trophoblast giant cell differentiation;IEA|GO:0060718;chorionic trophoblast cell differentiation;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0071930;negative regulation of transcription involved in G1/S transition of mitotic cell cycle;IDA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0016607;nuclear speck;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001047;core promoter binding;IDA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/E2F7 https://www.ncbi.nlm.nih.gov/omim/?term=612046 http://www.informatics.jax.org/searchtool/Search.do?query=E2F7&submit=Quick%0D%11647ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=E2F7 11_21.322_43.322 Chr11:11392976-25199292 1.269 E2F8 ENSG00000129173 E2F transcription factor 8 chr11:19245610-19263167 This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012] Mice homozygous for a knock-out allele develop normally through puberty and live to old age. TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001890;placenta development;ISS|GO:0002040;sprouting angiogenesis;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007049;cell cycle;IEA|GO:0008283;cell proliferation;IEA|GO:0032466;negative regulation of cytokinesis;ISS|GO:0032877;positive regulation of DNA endoreduplication;ISS|GO:0033301;cell cycle comprising mitosis without cytokinesis;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0060707;trophoblast giant cell differentiation;ISS|GO:0060718;chorionic trophoblast cell differentiation;ISS|GO:0070365;hepatocyte differentiation;ISS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001047;core promoter binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IMP|GO:0003714;transcription corepressor activity;ISS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IEA|GO:0042803;protein homodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/E2F8 https://www.uniprot.org/uniprot/A0AVK6 https://www.ncbi.nlm.nih.gov/omim/?term=612047 http://www.informatics.jax.org/searchtool/Search.do?query=E2F8&submit=Quick%0D%6223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=E2F8 19_20.212_38.212 Chr19:6565245-15124834 0.429 ECSIT ENSG00000130159 ECSIT signalling integrator chr19:11616731-11639989 Acquired Immunodeficiency Syndrome|Disease Progression Homozygous mutant mice die around the stage of gastrulation showing abnormal epiblast patterning. MyD88 cascade initiated on plasma membrane GO:0002376;immune system process;IEA|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0045087;innate immune response;IEA|GO:0051341;regulation of oxidoreductase activity;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005829;cytosol;IDA GO:0005515;protein binding;IPI|GO:0016651;oxidoreductase activity, acting on NAD(P)H;IDA http://www.genecards.org/index.php?path=/Search/keyword/ECSIT https://www.uniprot.org/uniprot/Q9BQ95 https://www.ncbi.nlm.nih.gov/omim/?term=608388 http://www.informatics.jax.org/searchtool/Search.do?query=ECSIT&submit=Quick%0D%6320ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ECSIT 20_50.701_78.701 Chr20:25016495-51804476 1.1 EDEM2 ENSG00000088298 ER degradation enhancing alpha-mannosidase like protein 2 chr20:33703167-33865928 In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008] Protein C ER Quality Control Compartment (ERQC) GO:0006491;N-glycan processing;IBA|GO:0006986;response to unfolded protein;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IBA|GO:0030968;endoplasmic reticulum unfolded protein response;IBA|GO:0036509;trimming of terminal mannose on B branch;TAS|GO:0036510;trimming of terminal mannose on C branch;TAS|GO:0036511;trimming of first mannose on A branch;TAS|GO:0036512;trimming of second mannose on A branch;TAS|GO:0097466;ubiquitin-dependent glycoprotein ERAD pathway;IMP|GO:1904154;positive regulation of retrograde protein transport, ER to cytosol;IGI|GO:1904382;mannose trimming involved in glycoprotein ERAD pathway;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0016020;membrane;IEA|GO:0044322;endoplasmic reticulum quality control compartment;TAS GO:0001948;glycoprotein binding;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0004571;mannosyl-oligosaccharide 1,2-alpha-mannosidase activity;IMP|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EDEM2 https://www.uniprot.org/uniprot/Q9BV94 https://www.ncbi.nlm.nih.gov/omim/?term=610302 http://www.informatics.jax.org/searchtool/Search.do?query=EDEM2&submit=Quick%0D%1995ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EDEM2 20_50.701_78.701 Chr20:25016495-51804476 1.1 EFCAB8 ENSG00000215529 EF-hand calcium binding domain 8 chr20:31446729-31549006 Iron GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EFCAB8 http://www.informatics.jax.org/searchtool/Search.do?query=EFCAB8&submit=Quick%0D%18345ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EFCAB8 20_50.701_78.701 Chr20:25016495-51804476 1.1 EIF2S2 ENSG00000125977 eukaryotic translation initiation factor 2 subunit beta chr20:32676104-32700138 Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Mice homozygous for a gene trap allele exhibit embryonic lethallity prior to E8.5. Mice heterozygous for a gene trap allele exhibit reduced incidence of testicular germ cell tumors. Recycling of eIF2:GDP GO:0001701;in utero embryonic development;IEA|GO:0002176;male germ cell proliferation;IEA|GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0008584;male gonad development;IEA|GO:0055085;transmembrane transport;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005850;eukaryotic translation initiation factor 2 complex;TAS GO:0003723;RNA binding;TAS|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EIF2S2 https://www.uniprot.org/uniprot/P20042 https://www.ncbi.nlm.nih.gov/omim/?term=603908 http://www.informatics.jax.org/searchtool/Search.do?query=EIF2S2&submit=Quick%0D%5894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF2S2 19_20.212_38.212 Chr19:6565245-15124834 0.429 EIF3G ENSG00000130811 eukaryotic translation initiation factor 3 subunit G chr19:10225693-10230596 This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016] GTP hydrolysis and joining of the 60S ribosomal subunit GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0075525;viral translational termination-reinitiation;IDA GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005852;eukaryotic translation initiation factor 3 complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EIF3G https://www.uniprot.org/uniprot/O75821 https://www.ncbi.nlm.nih.gov/omim/?term=603913 http://www.informatics.jax.org/searchtool/Search.do?query=EIF3G&submit=Quick%0D%6449ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF3G 20_50.701_78.701 Chr20:25016495-51804476 1.1 EIF6 ENSG00000242372 eukaryotic translation initiation factor 6 chr20:33866714-33872788 Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple non-protein coding transcript variants and variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Height; Melanosis; Iron; height Mice homozygous for a knock-out allele exhibit lethality prior to E3.5 and mice heterozygous for the allele exhibit reduced body, liver and adipose tissue weights associated with a reduced translation rate and delayed G1/S phase transition. GO:0000054;ribosomal subunit export from nucleus;IBA|GO:0000460;maturation of 5.8S rRNA;IBA|GO:0000470;maturation of LSU-rRNA;IBA|GO:0006110;regulation of glycolytic process;ISS|GO:0006412;translation;IEA|GO:0006413;translational initiation;IEA|GO:0032868;response to insulin;ISS|GO:0035195;gene silencing by miRNA;IMP|GO:0035278;miRNA mediated inhibition of translation;IMP|GO:0042254;ribosome biogenesis;IEA|GO:0042256;mature ribosome assembly;IEA|GO:0042304;regulation of fatty acid biosynthetic process;ISS|GO:0045652;regulation of megakaryocyte differentiation;ISS|GO:0045727;positive regulation of translation;ISS|GO:1902626;assembly of large subunit precursor of preribosome;IBA|GO:2000377;regulation of reactive oxygen species metabolic process;ISS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IBA|GO:0030687;preribosome, large subunit precursor;IBA|GO:0070062;extracellular exosome;IDA GO:0003743;translation initiation factor activity;IEA|GO:0005515;protein binding;IPI|GO:0043022;ribosome binding;IEA|GO:0043023;ribosomal large subunit binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/EIF6 https://www.ncbi.nlm.nih.gov/omim/?term=602912 http://www.informatics.jax.org/searchtool/Search.do?query=EIF6&submit=Quick%0D%19724ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF6 19_20.212_38.212 Chr19:6565245-15124834 0.429 ELAVL1 ENSG00000066044 ELAV like RNA binding protein 1 chr19:8023463-8070543 The protein encoded by this gene is a member of the ELAVL family of RNA-binding proteins that contain several RNA recognition motifs, and selectively bind AU-rich elements (AREs) found in the 3' untranslated regions of mRNAs. AREs signal degradation of mRNAs as a means to regulate gene expression, thus by binding AREs, the ELAVL family of proteins play a role in stabilizing ARE-containing mRNAs. This gene has been implicated in a variety of biological processes and has been linked to a number of diseases, including cancer. It is highly expressed in many cancers, and could be potentially useful in cancer diagnosis, prognosis, and therapy. [provided by RefSeq, Sep 2012] Type 2 Diabetes| edema | rosiglitazone Homozygous inactivation of this gene leads to embryonic growth retardation and midgestational lethality due to placental failure resulting from extraembryonic trophoblast defects. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0007275;multicellular organism development;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0045727;positive regulation of translation;IDA|GO:0048255;mRNA stabilization;IDA|GO:0060965;negative regulation of gene silencing by miRNA;IGI|GO:0070935;3'-UTR-mediated mRNA stabilization;IDA|GO:2000036;regulation of stem cell population maintenance;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:1990904;ribonucleoprotein complex;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0003729;mRNA binding;TAS|GO:0003730;mRNA 3'-UTR binding;IEA|GO:0005515;protein binding;IPI|GO:0017091;AU-rich element binding;IDA|GO:0019901;protein kinase binding;IPI|GO:0035925;mRNA 3'-UTR AU-rich region binding;IDA|GO:0042803;protein homodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/ELAVL1 https://www.uniprot.org/uniprot/Q15717 https://www.ncbi.nlm.nih.gov/omim/?term=603466 http://www.informatics.jax.org/searchtool/Search.do?query=ELAVL1&submit=Quick%0D%1204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ELAVL1 19_20.212_38.212 Chr19:6565245-15124834 0.429 ELAVL3 ENSG00000196361 ELAV like RNA binding protein 3 chr19:11562141-11591861 A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit strain-specific preweaning lethality, abnormal cortical hypersynchronization and non-convulsive electropgraphic seizure. Mice heterozygous for the allele exhibit abnormal brain wave pattern and spike wave discharge. GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0017091;AU-rich element binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ELAVL3 https://www.ncbi.nlm.nih.gov/omim/?term=603458 http://www.informatics.jax.org/searchtool/Search.do?query=ELAVL3&submit=Quick%0D%16333ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ELAVL3 20_50.701_78.701 Chr20:25016495-51804476 1.1 ELMO2 ENSG00000062598 engulfment and cell motility 2 chr20:44994688-45061704 The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] diabetes, type 2 PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases GO:0006909;phagocytosis;IEA|GO:0006915;apoptotic process;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0016477;cell migration;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0060326;cell chemotaxis;IMP|GO:0098609;cell-cell adhesion;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0017124;SH3 domain binding;IEA|GO:0030971;receptor tyrosine kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ELMO2 https://www.uniprot.org/uniprot/Q96JJ3 https://hpo.jax.org/app/browse/search?q=ELMO2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606421 http://www.informatics.jax.org/searchtool/Search.do?query=ELMO2&submit=Quick%0D%1091ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ELMO2 19_20.212_38.212 Chr19:6565245-15124834 0.429 ELOF1 ENSG00000130165 elongation factor 1 homolog chr19:11661962-11670051 Multiple Sclerosis Mice homozygous for a knock-out allele exhibit embryonic growth retardation and morphological defects during early development resulting in failure to gastrulate and embryonic lethality. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006368;transcription elongation from RNA polymerase II promoter;IBA|GO:0006414;translational elongation;IEA|GO:0048096;chromatin-mediated maintenance of transcription;IBA GO:0005634;nucleus;IEA|GO:0008023;transcription elongation factor complex;IBA GO:0000993;RNA polymerase II core binding;IBA|GO:0003746;translation elongation factor activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ELOF1 https://www.uniprot.org/uniprot/P60002 http://www.informatics.jax.org/searchtool/Search.do?query=ELOF1&submit=Quick%0D%6322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ELOF1 20_50.701_78.701 Chr20:25016495-51804476 1.1 EMILIN3 ENSG00000183798 elastin microfibril interfacer 3 chr20:39988606-39995467 Molecules associated with elastic fibres GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005737;cytoplasm;IEA|GO:0031012;extracellular matrix;IBA http://www.genecards.org/index.php?path=/Search/keyword/EMILIN3 https://www.ncbi.nlm.nih.gov/omim/?term=608929 http://www.informatics.jax.org/searchtool/Search.do?query=EMILIN3&submit=Quick%0D%15082ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EMILIN3 20_50.701_78.701 Chr20:25016495-51804476 1.1 ENTPD6 ENSG00000197586 ectonucleoside triphosphate diphosphohydrolase 6 (putative) chr20:25176329-25207365 ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Rhinitis, Allergic, Seasonal; Type 2 Diabetes| edema | rosiglitazone Phosphate bond hydrolysis by NTPDase proteins GO:0032026;response to magnesium ion;IEA|GO:0034656;nucleobase-containing small molecule catabolic process;TAS|GO:0051592;response to calcium ion;IEA GO:0000139;Golgi membrane;IEA|GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0008894;guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017110;nucleoside-diphosphatase activity;EXP|GO:0017111;nucleoside-triphosphatase activity;IEA|GO:0045134;uridine-diphosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ENTPD6 https://www.ncbi.nlm.nih.gov/omim/?term=603160 http://www.informatics.jax.org/searchtool/Search.do?query=ENTPD6&submit=Quick%0D%16666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ENTPD6 20_50.701_78.701 Chr20:25016495-51804476 1.1 EPB41L1 ENSG00000088367 erythrocyte membrane protein band 4.1 like 1 chr20:34679426-34820721 Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015] Bulimia Mice homozygous for a null allele exhibit no obvious phenotypic abnormalities. Neurexins and neuroligins GO:0030866;cortical actin cytoskeleton organization;IEA|GO:0031032;actomyosin structure organization;IBA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0005912;adherens junction;IEA|GO:0019898;extrinsic component of membrane;IEA GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;IBA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IEA|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/EPB41L1 https://www.uniprot.org/uniprot/Q9H4G0 https://hpo.jax.org/app/browse/search?q=EPB41L1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602879 http://www.informatics.jax.org/searchtool/Search.do?query=EPB41L1&submit=Quick%0D%1999ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPB41L1 19_20.212_38.212 Chr19:6565245-15124834 0.429 EPOR ENSG00000187266 erythropoietin receptor chr19:11488236-11495018 This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Familial erythrocytosis; Lymphoproliferative Disorders|Myelodysplastic Syndromes; Myeloproliferative Disorders|Polycythemia Vera|Thrombocythemia, Essential Mutations in this locus affect erythropoiesis. Targeted null mutants die at embryonic day 11-12.5 with severe anemia. Mutants with truncated alleles are viable with mild changes in erythropoiesis. A human mutation replacement allele produces polycythemia. GO:0007165;signal transduction;NAS|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0038162;erythropoietin-mediated signaling pathway;IEA|GO:0046697;decidualization;IEA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004888;transmembrane signaling receptor activity;IEA|GO:0004896;cytokine receptor activity;IEA|GO:0004900;erythropoietin receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EPOR https://hpo.jax.org/app/browse/search?q=EPOR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=133171 http://www.informatics.jax.org/searchtool/Search.do?query=EPOR&submit=Quick%0D%15813ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPOR 20_50.701_78.701 Chr20:25016495-51804476 1.1 EPPIN ENSG00000101448 epididymal peptidase inhibitor chr20:44165625-44176391 This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility and exhibits antimicrobial activity against E. coli, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] Infertility, Male Antimicrobial peptides GO:0010466;negative regulation of peptidase activity;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0042742;defense response to bacterium;IDA|GO:0051259;protein oligomerization;IDA|GO:0090281;negative regulation of calcium ion import;IMP|GO:1901318;negative regulation of flagellated sperm motility;IMP GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0043234;protein complex;IDA|GO:0097524;sperm plasma membrane;TAS GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPPIN https://www.uniprot.org/uniprot/O95925 https://www.ncbi.nlm.nih.gov/omim/?term=609031 http://www.informatics.jax.org/searchtool/Search.do?query=EPPIN&submit=Quick%0D%2746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPPIN 20_50.701_78.701 Chr20:25016495-51804476 1.1 EPPIN-WFDC6 ENSG00000249139 EPPIN-WFDC6 readthrough chr20:44165625-44176065 This locus represents naturally occurring read-through transcription between the neighboring SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) and WFDC6 (WAP four-disulfide core domain 6) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010] Antimicrobial peptides GO:0010466;negative regulation of peptidase activity;IDA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0042742;defense response to bacterium;IDA|GO:0051259;protein oligomerization;IDA|GO:0090281;negative regulation of calcium ion import;IMP|GO:1901318;negative regulation of flagellated sperm motility;IMP GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0043234;protein complex;IDA|GO:0097524;sperm plasma membrane;TAS GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0005515;protein binding;IPI|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/EPPIN-WFDC6 https://www.uniprot.org/uniprot/O95925 http://www.informatics.jax.org/searchtool/Search.do?query=EPPIN-WFDC6&submit=Quick%0D%19912ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPPIN-WFDC6 12_78.016_106.016 Chr12:64973018-92996828 1.299 EPYC ENSG00000083782 epiphycan chr12:91357456-91398803 Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008] Myopia, Degenerative; Myopia; myopia Mice homozygous for a knock-out exhibit short femurs and borderline osteoarthritis at 9 months of age. Another null mouse shows elevated hearing thresholds. GO:0007409;axonogenesis;IBA|GO:0007565;female pregnancy;TAS GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IBA GO:0005539;glycosaminoglycan binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/EPYC https://www.uniprot.org/uniprot/Q99645 https://www.ncbi.nlm.nih.gov/omim/?term=601657 http://www.informatics.jax.org/searchtool/Search.do?query=EPYC&submit=Quick%0D%1836ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EPYC 20_50.701_78.701 Chr20:25016495-51804476 1.1 ERGIC3 ENSG00000125991 ERGIC and golgi 3 chr20:34129770-34145405 GO:0006810;transport;IEA|GO:0016192;vesicle-mediated transport;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/ERGIC3 https://www.uniprot.org/uniprot/Q9Y282 https://www.ncbi.nlm.nih.gov/omim/?term=616971 http://www.informatics.jax.org/searchtool/Search.do?query=ERGIC3&submit=Quick%0D%5895ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ERGIC3 19_20.212_38.212 Chr19:6565245-15124834 0.429 EVI5L ENSG00000142459 ecotropic viral integration site 5 like chr19:7895119-7929862 HIV-1 GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0090630;activation of GTPase activity;IBA|GO:1902018;negative regulation of cilium assembly;IMP GO:0005622;intracellular;IBA|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005096;GTPase activator activity;IDA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/EVI5L https://www.uniprot.org/uniprot/Q96CN4 http://www.informatics.jax.org/searchtool/Search.do?query=EVI5L&submit=Quick%0D%8285ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EVI5L 20_50.701_78.701 Chr20:25016495-51804476 1.1 EYA2 ENSG00000064655 EYA transcriptional coactivator and phosphatase 2 chr20:45523263-45817492 This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009] Tobacco Use Disorder; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; Alcoholism Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007275;multicellular organism development;IEA|GO:0007501;mesodermal cell fate specification;TAS|GO:0014706;striated muscle tissue development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016576;histone dephosphorylation;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0045739;positive regulation of DNA repair;IBA|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:0097345;mitochondrial outer membrane permeabilization;IEA|GO:2001240;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;IBA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IDA GO:0000287;magnesium ion binding;IDA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/EYA2 https://www.uniprot.org/uniprot/O00167 https://www.ncbi.nlm.nih.gov/omim/?term=601654 http://www.informatics.jax.org/searchtool/Search.do?query=EYA2&submit=Quick%0D%1139ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=EYA2 22_57.194_74.694 Chr22:45430165-51215481 0.519 FAM118A ENSG00000100376 family with sequence similarity 118 member A chr22:45704849-45737836 Glucose; null GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM118A https://www.uniprot.org/uniprot/Q9NWS6 http://www.informatics.jax.org/searchtool/Search.do?query=FAM118A&submit=Quick%0D%2502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM118A 20_50.701_78.701 Chr20:25016495-51804476 1.1 FAM182B ENSG00000175170 family with sequence similarity 182 member B chr20:25744102-25848861 http://www.genecards.org/index.php?path=/Search/keyword/FAM182B http://www.informatics.jax.org/searchtool/Search.do?query=FAM182B&submit=Quick%0D%13648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM182B 22_57.194_74.694 Chr22:45430165-51215481 0.519 FAM19A5 ENSG00000219438 family with sequence similarity 19 member A5, C-C motif chemokine like chr22:48885272-49246724 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Sep 2013] Amyotrophic Lateral Sclerosis; Body Height; Hematocrit; Blood Pressure Determination; Tunica Media; Cholesterol; Hemoglobins; Tobacco Use Disorder; Pancreatic Neoplasms; Lipids; Myocardial Infarction; Hemoglobin A, Glycosylated GO:0005576;extracellular region;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/FAM19A5 https://www.ncbi.nlm.nih.gov/omim/?term=617499 http://www.informatics.jax.org/searchtool/Search.do?query=FAM19A5&submit=Quick%0D%18386ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM19A5 20_50.701_78.701 Chr20:25016495-51804476 1.1 FAM83C ENSG00000125998 family with sequence similarity 83 member C chr20:33873534-33880204 GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM83C https://www.uniprot.org/uniprot/Q9BQN1 http://www.informatics.jax.org/searchtool/Search.do?query=FAM83C&submit=Quick%0D%5897ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM83C 20_50.701_78.701 Chr20:25016495-51804476 1.1 FAM83D ENSG00000101447 family with sequence similarity 83 member D chr20:37554955-37581703 GO:0001837;epithelial to mesenchymal transition;IDA|GO:0007049;cell cycle;IEA|GO:0008283;cell proliferation;IDA|GO:0016477;cell migration;IDA|GO:0032006;regulation of TOR signaling;IDA|GO:0042176;regulation of protein catabolic process;IDA|GO:0051301;cell division;IEA|GO:0051310;metaphase plate congression;IMP|GO:0070372;regulation of ERK1 and ERK2 cascade;IMP|GO:1902480;protein localization to mitotic spindle;IMP|GO:1902808;positive regulation of cell cycle G1/S phase transition;IMP GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IC|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0097431;mitotic spindle pole;IDA GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IDA|GO:0019894;kinesin binding;IPI|GO:0019901;protein kinase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FAM83D https://www.uniprot.org/uniprot/Q9H4H8 http://www.informatics.jax.org/searchtool/Search.do?query=FAM83D&submit=Quick%0D%2745ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM83D 16_129.974_134.474 Chr16:87933002-90108832 0.174 FANCA ENSG00000187741 Fanconi anemia complementation group A chr16:89803957-89883065 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Adenocarcinoma|Pancreatic Neoplasms; Hair Color; epithelial ovarian cancer ; Melanosis; esophageal adenocarcinoma; Fanconi Anemia; lung cancer; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone; breast cancer; ovarian cancer; breast cancer ; bladder cancer; breast cancer; cervical intraepithelial neoplasia grade 3; Caffeine; longevity; chronic obstructive pulmonary disease; lung cancer Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. Fanconi Anemia Pathway GO:0006281;DNA repair;TAS|GO:0006461;protein complex assembly;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007140;male meiotic nuclear division;IEA|GO:0008584;male gonad development;IEA|GO:0008585;female gonad development;IEA|GO:0036297;interstrand cross-link repair;TAS|GO:0042127;regulation of cell proliferation;IEA|GO:0045589;regulation of regulatory T cell differentiation;IEA|GO:0050727;regulation of inflammatory response;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:2000348;regulation of CD40 signaling pathway;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FANCA https://hpo.jax.org/app/browse/search?q=FANCA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607139 http://www.informatics.jax.org/searchtool/Search.do?query=FANCA&submit=Quick%0D%15885ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCA 11_21.322_43.322 Chr11:11392976-25199292 1.269 FANCF ENSG00000183161 Fanconi anemia complementation group F chr11:22644079-22647387 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008] breast cancer ; epithelial ovarian cancer ; breast cancer; Adenocarcinoma|Pancreatic Neoplasms Fanconi Anemia Pathway GO:0001541;ovarian follicle development;IEA|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0016567;protein ubiquitination;IEA|GO:0036297;interstrand cross-link repair;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0043240;Fanconi anaemia nuclear complex;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0061630;ubiquitin protein ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FANCF https://hpo.jax.org/app/browse/search?q=FANCF&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613897 http://www.informatics.jax.org/searchtool/Search.do?query=FANCF&submit=Quick%0D%14936ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FANCF 11_21.322_43.322 Chr11:11392976-25199292 1.269 FAR1 ENSG00000197601 fatty acyl-CoA reductase 1 chr11:13690217-13753893 The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015] Severe intellectual disability epilepsy and cataracts Wax biosynthesis GO:0006629;lipid metabolic process;IEA|GO:0008611;ether lipid biosynthetic process;IDA|GO:0010025;wax biosynthetic process;TAS|GO:0035336;long-chain fatty-acyl-CoA metabolic process;IDA|GO:0046474;glycerophospholipid biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IDA|GO:0005779;integral component of peroxisomal membrane;IDA|GO:0005782;peroxisomal matrix;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016491;oxidoreductase activity;TAS|GO:0050062;long-chain-fatty-acyl-CoA reductase activity;IEA|GO:0080019;fatty-acyl-CoA reductase (alcohol-forming) activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/FAR1 https://hpo.jax.org/app/browse/search?q=FAR1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=616107 http://www.informatics.jax.org/searchtool/Search.do?query=FAR1&submit=Quick%0D%16671ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FAR1 19_20.212_38.212 Chr19:6565245-15124834 0.429 FARSA ENSG00000179115 phenylalanyl-tRNA synthetase alpha subunit chr19:13033293-13044851 Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008] Cytosolic tRNA aminoacylation GO:0006412;translation;IEA|GO:0006418;tRNA aminoacylation for protein translation;TAS|GO:0006432;phenylalanyl-tRNA aminoacylation;IEA|GO:0043039;tRNA aminoacylation;IEA|GO:0051290;protein heterotetramerization;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0009328;phenylalanine-tRNA ligase complex;IDA|GO:0016020;membrane;IDA GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0004812;aminoacyl-tRNA ligase activity;IEA|GO:0004826;phenylalanine-tRNA ligase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/FARSA https://www.ncbi.nlm.nih.gov/omim/?term=602918 http://www.informatics.jax.org/searchtool/Search.do?query=FARSA&submit=Quick%0D%14294ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FARSA 22_57.194_74.694 Chr22:45430165-51215481 0.519 FBLN1 ENSG00000077942 fibulin 1 chr22:45898118-45997015 Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008] Bipolar Disorder; Congenital Heart Defects|Heart Defects, Congenital; Tobacco Use Disorder; Abortion, Habitual|Infertility, Female; Cell Adhesion Molecules Mice homozygous for disruption of this gene develop problems with spontaneous bleeding as embryos. Most die within the first two days of life. Those that survive this period develop normally and eventually recover from their early developmental abnormalities. Molecules associated with elastic fibres GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0007162;negative regulation of cell adhesion;IDA|GO:0007566;embryo implantation;IEA|GO:0010952;positive regulation of peptidase activity;IEA|GO:0016032;viral process;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IDA|GO:0072378;blood coagulation, fibrin clot formation;IDA|GO:1900025;negative regulation of substrate adhesion-dependent cell spreading;IDA|GO:2000146;negative regulation of cell motility;IDA|GO:2000647;negative regulation of stem cell proliferation;IDA GO:0005576;extracellular region;IEA|GO:0005577;fibrinogen complex;IDA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA|GO:0071953;elastic fiber;IDA GO:0001968;fibronectin binding;IPI|GO:0005201;extracellular matrix structural constituent;IDA|GO:0005509;calcium ion binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016504;peptidase activator activity;IEA|GO:0032403;protein complex binding;IPI|GO:0042802;identical protein binding;IDA|GO:0070051;fibrinogen binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FBLN1 https://www.uniprot.org/uniprot/P23142 https://hpo.jax.org/app/browse/search?q=FBLN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=135820 http://www.informatics.jax.org/searchtool/Search.do?query=FBLN1&submit=Quick%0D%1638ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBLN1 19_20.212_38.212 Chr19:6565245-15124834 0.429 FBN3 ENSG00000142449 fibrillin 3 chr19:8130286-8214730 This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016] Polycystic Ovary Syndrome; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Fibrinogen; Sphingomyelins; Scoliosis; Sphingolipids; Insulin Resistance|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Forced Expiratory Volume; Hypertension Molecules associated with elastic fibres GO:0009653;anatomical structure morphogenesis;IBA|GO:0090287;regulation of cellular response to growth factor stimulus;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0031012;extracellular matrix;IBA GO:0005201;extracellular matrix structural constituent;IBA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FBN3 https://www.uniprot.org/uniprot/Q75N90 https://www.ncbi.nlm.nih.gov/omim/?term=608529 http://www.informatics.jax.org/searchtool/Search.do?query=FBN3&submit=Quick%0D%8283ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBN3 19_20.212_38.212 Chr19:6565245-15124834 0.429 FBXL12 ENSG00000127452 F-box and leucine rich repeat protein 12 chr19:9920943-9938492 Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Mice homozygous for a knock-out allele exhibit partial postnatal lethality, growth retardation, small placenta, absent gastric milk in mice that die and abnormal placental. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0043687;post-translational protein modification;TAS GO:0000151;ubiquitin ligase complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FBXL12 https://www.uniprot.org/uniprot/Q9NXK8 https://www.ncbi.nlm.nih.gov/omim/?term=609079 http://www.informatics.jax.org/searchtool/Search.do?query=FBXL12&submit=Quick%0D%6037ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL12 19_20.212_38.212 Chr19:6565245-15124834 0.429 FBXW9 ENSG00000132004 F-box and WD repeat domain containing 9 chr19:12798867-12807457 Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0043687;post-translational protein modification;TAS GO:0005829;cytosol;TAS GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/FBXW9 https://www.uniprot.org/uniprot/Q5XUX1 https://www.ncbi.nlm.nih.gov/omim/?term=609074 http://www.informatics.jax.org/searchtool/Search.do?query=FBXW9&submit=Quick%0D%6616ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXW9 19_20.212_38.212 Chr19:6565245-15124834 0.429 FCER2 ENSG00000104921 Fc fragment of IgE receptor II chr19:7753644-7767032 The protein encoded by this gene is a B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth factor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; lactate dehydrogenase severe acute respiratory syndrome; bronchodilator response; Atopy; Parkinson's disease ; Asthma; respiratory syncytial virus bronchiolitis; Meningeal Neoplasms|meningioma; lung cancer; Severe Acute Respiratory Syndrome; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Lymphoma, Non-Hodgkin; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; asthma Mice homozygous for mutations in this gene are essentially normal although IgE levels or IgE mediated responses may be abnormal. Interleukin-4 and 13 signaling GO:0002925;positive regulation of humoral immune response mediated by circulating immunoglobulin;IEA|GO:0007219;Notch signaling pathway;TAS|GO:0051000;positive regulation of nitric-oxide synthase activity;IDA|GO:0051712;positive regulation of killing of cells of other organism;IDA|GO:0051770;positive regulation of nitric-oxide synthase biosynthetic process;IDA GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005178;integrin binding;TAS|GO:0005515;protein binding;IPI|GO:0019863;IgE binding;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FCER2 https://www.uniprot.org/uniprot/P06734 https://www.ncbi.nlm.nih.gov/omim/?term=151445 http://www.informatics.jax.org/searchtool/Search.do?query=FCER2&submit=Quick%0D%3204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FCER2 20_50.701_78.701 Chr20:25016495-51804476 1.1 FITM2 ENSG00000197296 fat storage inducing transmembrane protein 2 chr20:42931478-42939809 FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Diabetes Mellitus, Type 2 Lipid particle organization GO:0007010;cytoskeleton organization;IMP|GO:0008654;phospholipid biosynthetic process;IBA|GO:0010866;regulation of triglyceride biosynthetic process;ISS|GO:0010890;positive regulation of sequestering of triglyceride;ISS|GO:0019915;lipid storage;IBA|GO:0022604;regulation of cell morphogenesis;IMP|GO:0030730;sequestering of triglyceride;IEA|GO:0034389;lipid particle organization;TAS|GO:0035356;cellular triglyceride homeostasis;ISS GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/FITM2 https://www.ncbi.nlm.nih.gov/omim/?term=612029 http://www.informatics.jax.org/searchtool/Search.do?query=FITM2&submit=Quick%0D%16590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FITM2 20_50.701_78.701 Chr20:25016495-51804476 1.1 FOXS1 ENSG00000179772 forkhead box S1 chr20:30432103-30433420 The forkhead family of transcription factors belongs to the winged helix class of DNA-binding proteins. The protein encoded by this intronless gene contains a forkhead domain and is found predominantly in aorta and kidney. The function of the encoded protein is unknown. [provided by RefSeq, Jul 2008] Homozygotes for one reporter allele display enhanced rotarod performance and increased male resistance to diet-induced obesity. Homozygotes for another reporter allele show impaired testicular vasculature, including blood accumulation in fetal testis and marked apoptosis of periendothelial cells. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001568;blood vessel development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0050885;neuromuscular process controlling balance;IEA GO:0005634;nucleus;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/FOXS1 https://www.ncbi.nlm.nih.gov/omim/?term=602939 http://www.informatics.jax.org/searchtool/Search.do?query=FOXS1&submit=Quick%0D%14380ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FOXS1 12_78.016_106.016 Chr12:64973018-92996828 1.299 FRS2 ENSG00000166225 fibroblast growth factor receptor substrate 2 chr12:69864129-69973562 Hypertension; Hip; response to diuretic therapy; height Homozygous null mice exhibit embryonic lethality between E5.75 and E8 and defects in primitive streak formation and anterior-posterior axis formation. RET signaling GO:0000165;MAPK cascade;TAS|GO:0000186;activation of MAPKK activity;TAS|GO:0000187;activation of MAPK activity;IEA|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001759;organ induction;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0003281;ventricular septum development;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007185;transmembrane receptor protein tyrosine phosphatase signaling pathway;TAS|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007405;neuroblast proliferation;IEA|GO:0007411;axon guidance;TAS|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0008595;anterior/posterior axis specification, embryo;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0030900;forebrain development;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046619;optic placode formation involved in camera-type eye formation;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0050678;regulation of epithelial cell proliferation;IEA|GO:0060527;prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis;IEA|GO:0070307;lens fiber cell development;IEA|GO:0070372;regulation of ERK1 and ERK2 cascade;IEA|GO:2000726;negative regulation of cardiac muscle cell differentiation;IGI GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;TAS GO:0005068;transmembrane receptor protein tyrosine kinase adaptor activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005104;fibroblast growth factor receptor binding;IPI|GO:0005158;insulin receptor binding;IEA|GO:0005168;neurotrophin TRKA receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0019211;phosphatase activator activity;TAS|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/FRS2 https://www.ncbi.nlm.nih.gov/omim/?term=607743 http://www.informatics.jax.org/searchtool/Search.do?query=FRS2&submit=Quick%0D%11733ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=FRS2 19_20.212_38.212 Chr19:6565245-15124834 0.429 GADD45GIP1 ENSG00000179271 GADD45G interacting protein 1 chr19:13064972-13068050 This gene encodes a nuclear-localized protein that may be induced by p53 and regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012] Mice homozygous for a null mutation display embryonic lethality before somite formation with decreased cell proliferation, increased apoptisis, and failure of inner cell mass outgrowth. Mitochondrial translation termination GO:0007049;cell cycle;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0016032;viral process;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS|GO:0071850;mitotic cell cycle arrest;IDA|GO:1903862;positive regulation of oxidative phosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0005761;mitochondrial ribosome;IEA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GADD45GIP1 https://www.ncbi.nlm.nih.gov/omim/?term=605162 http://www.informatics.jax.org/searchtool/Search.do?query=GADD45GIP1&submit=Quick%0D%14318ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GADD45GIP1 16_129.974_134.474 Chr16:87933002-90108832 0.174 GALNS ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase chr16:88880142-88923378 This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Hemoglobins; Tobacco Use Disorder; Hematocrit Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. Neutrophil degranulation GO:0008152;metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0003943;N-acetylgalactosamine-4-sulfatase activity;TAS|GO:0008484;sulfuric ester hydrolase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0043890;N-acetylgalactosamine-6-sulfatase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNS https://www.uniprot.org/uniprot/P34059 https://hpo.jax.org/app/browse/search?q=GALNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612222 http://www.informatics.jax.org/searchtool/Search.do?query=GALNS&submit=Quick%0D%8109ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNS 11_21.322_43.322 Chr11:11392976-25199292 1.269 GALNT18 ENSG00000110328 polypeptide N-acetylgalactosaminyltransferase 18 chr11:11292423-11643552 Leukocyte Count; Tobacco Use Disorder; Body Composition; Body Mass Index; prostate cancer; Potassium; Arthritis, Rheumatoid; Celiac Disease| O-linked glycosylation of mucins GO:0006486;protein glycosylation;IEA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT18 https://www.uniprot.org/uniprot/Q6P9A2 https://www.ncbi.nlm.nih.gov/omim/?term=615136 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT18&submit=Quick%0D%3950ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT18 12_78.016_106.016 Chr12:64973018-92996828 1.299 GALNT4 ENSG00000257594 polypeptide N-acetylgalactosaminyltransferase 4 chr12:89913185-89920039 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010] Acute Coronary Syndrome|Coronary Artery Disease An unpublished knockout mutation is reported to have no overt phenotypic consequences. O-linked glycosylation of mucins GO:0005975;carbohydrate metabolic process;NAS|GO:0006486;protein glycosylation;IEA|GO:0016266;O-glycan processing;TAS GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0004653;polypeptide N-acetylgalactosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GALNT4 https://www.ncbi.nlm.nih.gov/omim/?term=603565 http://www.informatics.jax.org/searchtool/Search.do?query=GALNT4&submit=Quick%0D%20246ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GALNT4 16_101.974_110.974 Chr16:79461830-82833302 0.225 GAN ENSG00000261609 gigaxonin chr16:81348557-81424489 This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008] Waist Circumference; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; high-density lipoprotein cholesterol Null homozygotes display some muscular atrophy and motor neuron degeneration with the severity of these symptoms depending on genotype. Antigen processing: Ubiquitination & Proteasome degradation GO:0007010;cytoskeleton organization;IEA|GO:0016567;protein ubiquitination;IDA|GO:0043687;post-translational protein modification;TAS GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA GO:0003674;molecular_function;ND|GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GAN https://hpo.jax.org/app/browse/search?q=GAN&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605379 http://www.informatics.jax.org/searchtool/Search.do?query=GAN&submit=Quick%0D%20417ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAN 11_21.322_43.322 Chr11:11392976-25199292 1.269 GAS2 ENSG00000148935 growth arrest specific 2 chr11:22647188-22834601 The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009] Heart Diseases; Mortality; Lipoproteins, VLDL; Hemoglobin A, Glycosylated; Narcolepsy; Diabetes Mellitus, Type 2 Null females have reduced fertility. Oocyte cyst breakdown is disrupted and follicle growth is impaired, with reduced antral follicle and corpora lutea numbers, and disrupted basal lamina surrounding follicles. Caspase-mediated cleavage of cytoskeletal proteins GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0008360;regulation of cell shape;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;TAS|GO:0016020;membrane;IEA GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GAS2 https://www.uniprot.org/uniprot/O43903 https://www.ncbi.nlm.nih.gov/omim/?term=602835 http://www.informatics.jax.org/searchtool/Search.do?query=GAS2&submit=Quick%0D%9175ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS2 16_129.974_134.474 Chr16:87933002-90108832 0.174 GAS8 ENSG00000141013 growth arrest specific 8 chr16:90086037-90111383 This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] Heart Failure Mice homozygous for a gene trap allele exhibit postnatal lethality, severe hydrocephaly, situs inversus with levocardia and abnormal cilia morphology and function. Activation of SMO GO:0003351;epithelial cilium movement;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007420;brain development;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0030317;flagellated sperm motility;IEA|GO:0034613;cellular protein localization;IEA|GO:0035082;axoneme assembly;IEA|GO:0048870;cell motility;IEA|GO:0060294;cilium movement involved in cell motility;IMP|GO:1904526;regulation of microtubule binding;IEA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IDA|GO:0005929;cilium;IDA|GO:0005930;axoneme;IDA|GO:0015630;microtubule cytoskeleton;IEA|GO:0031514;motile cilium;IEA|GO:0036064;ciliary basal body;IEA|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0097729;9+2 motile cilium;IEA GO:0003674;molecular_function;ND|GO:0008017;microtubule binding;IEA|GO:0017137;Rab GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GAS8 https://www.uniprot.org/uniprot/O95995 https://hpo.jax.org/app/browse/search?q=GAS8&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605178 http://www.informatics.jax.org/searchtool/Search.do?query=GAS8&submit=Quick%0D%8110ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GAS8 19_20.212_38.212 Chr19:6565245-15124834 0.429 GCDH ENSG00000105607 glutaryl-CoA dehydrogenase chr19:13001840-13025021 The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013] free glutarate excretion; Type 2 Diabetes| edema | rosiglitazone; Erythrocyte Indices; mean corpuscular hemoglobin; Acquired Immunodeficiency Syndrome|Disease Progression Homozygotes for a targeted null mutation exhibit a mild motor deficit associated with a diffuse spongiform myelinopathy and elevated levels of glutaric acid and 3-hydroxyglutaric acid. Lysine catabolism GO:0006554;lysine catabolic process;TAS|GO:0006568;tryptophan metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0019395;fatty acid oxidation;IEA|GO:0033539;fatty acid beta-oxidation using acyl-CoA dehydrogenase;IDA|GO:0046949;fatty-acyl-CoA biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS GO:0000062;fatty-acyl-CoA binding;IEA|GO:0003995;acyl-CoA dehydrogenase activity;IEA|GO:0004361;glutaryl-CoA dehydrogenase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GCDH https://www.uniprot.org/uniprot/Q92947 https://hpo.jax.org/app/browse/search?q=GCDH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608801 http://www.informatics.jax.org/searchtool/Search.do?query=GCDH&submit=Quick%0D%3338ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCDH 16_101.974_110.974 Chr16:79461830-82833302 0.225 GCSH ENSG00000140905 glycine cleavage system protein H chr16:81115566-81130008 Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010] Body Weights and Measures; smoking cessation; high-density lipoprotein cholesterol ; hyperglycinemia, nonketotic; Chronic renal failure|Kidney Failure, Chronic Glycine degradation GO:0006546;glycine catabolic process;TAS|GO:0009249;protein lipoylation;IDA|GO:0019464;glycine decarboxylation via glycine cleavage system;IEA|GO:0032259;methylation;IEA|GO:0034641;cellular nitrogen compound metabolic process;TAS GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS|GO:0005960;glycine cleavage complex;TAS GO:0004047;aminomethyltransferase activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GCSH https://www.uniprot.org/uniprot/P23434 https://hpo.jax.org/app/browse/search?q=GCSH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=238330 http://www.informatics.jax.org/searchtool/Search.do?query=GCSH&submit=Quick%0D%8088ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GCSH 20_50.701_78.701 Chr20:25016495-51804476 1.1 GDAP1L1 ENSG00000124194 ganglioside induced differentiation associated protein 1 like 1 chr20:42875887-42909013 The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GDAP1L1 https://www.uniprot.org/uniprot/Q96MZ0 http://www.informatics.jax.org/searchtool/Search.do?query=GDAP1L1&submit=Quick%0D%5610ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GDAP1L1 20_50.701_78.701 Chr20:25016495-51804476 1.1 GDF5 ENSG00000125965 growth differentiation factor 5 chr20:34021145-34042568 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016] Fractures, Bone|Osteoarthritis|Osteoarthritis, Knee; Degenerative arthropathy |Osteoarthritis; Osteoarthritis; Osteoarthritis, Hip|Osteoarthritis, Knee; Height; Hip Dislocation, Congenital; Osteoarthritis|Osteoarthritis, Hip|Osteoarthritis, Knee; height; Osteoarthritis, Knee; Body Weight|Osteoarthritis, Knee; Bone Mineral Density; osteoarthritis Homozygous mutations in this gene can cause joint patterning defects leading to complete or partial fusions between specific skeletal elements and alterations in the patterns of repeating structures in the digits, wrists and ankles. Molecules associated with elastic fibres GO:0002062;chondrocyte differentiation;IEA|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007184;SMAD protein import into nucleus;IDA|GO:0007267;cell-cell signaling;TAS|GO:0009612;response to mechanical stimulus;IEA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IBA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0030513;positive regulation of BMP signaling pathway;IDA|GO:0032331;negative regulation of chondrocyte differentiation;IDA|GO:0032332;positive regulation of chondrocyte differentiation;IDA|GO:0035136;forelimb morphogenesis;IEA|GO:0035137;hindlimb morphogenesis;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0042981;regulation of apoptotic process;IBA|GO:0043408;regulation of MAPK cascade;IBA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043932;ossification involved in bone remodeling;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0048468;cell development;IBA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0051216;cartilage development;IEA|GO:0060395;SMAD protein signal transduction;IDA|GO:0060591;chondroblast differentiation;IDA|GO:2001054;negative regulation of mesenchymal cell apoptotic process;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0005102;receptor binding;IEA|GO:0005125;cytokine activity;IEA|GO:0005160;transforming growth factor beta receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;TAS|GO:0036122;BMP binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GDF5 https://www.uniprot.org/uniprot/P43026 https://hpo.jax.org/app/browse/search?q=GDF5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601146 http://www.informatics.jax.org/searchtool/Search.do?query=GDF5&submit=Quick%0D%5887ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GDF5 20_50.701_78.701 Chr20:25016495-51804476 1.1 GDF5OS ENSG00000204183 chr20:34020827-34023248 GO:0005739;mitochondrion;IEA http://www.genecards.org/index.php?path=/Search/keyword/GDF5OS http://www.informatics.jax.org/searchtool/Search.do?query=GDF5OS&submit=Quick%0D%17221ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GDF5OS 20_50.701_78.701 Chr20:25016495-51804476 1.1 GGT7 ENSG00000131067 gamma-glutamyltransferase 7 chr20:33432523-33460663 This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransferase may signal preneoplastic or toxic conditions in the liver or kidney. The protein encoded by this gene consists of a heavy and a light chain, and it can interact with CT120, a plasma membrane-associated protein that is possibly involved in lung carcinogenesis. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Aflatoxin activation and detoxification GO:0006508;proteolysis;IEA|GO:0006749;glutathione metabolic process;IEA|GO:0006750;glutathione biosynthetic process;IEA|GO:0006751;glutathione catabolic process;IEA|GO:0019370;leukotriene biosynthetic process;ISS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031362;anchored component of external side of plasma membrane;TAS GO:0003840;gamma-glutamyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0016787;hydrolase activity;IEA|GO:0036374;glutathione hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GGT7 https://www.uniprot.org/uniprot/Q9UJ14 https://www.ncbi.nlm.nih.gov/omim/?term=612342 http://www.informatics.jax.org/searchtool/Search.do?query=GGT7&submit=Quick%0D%6489ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GGT7 20_50.701_78.701 Chr20:25016495-51804476 1.1 GHRH ENSG00000118702 growth hormone releasing hormone chr20:35879489-35890238 This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] Osteoporosis; Bone Mineral Density; breast cancer|prostate cancer; Edema rosiglitazone or pioglitazone; Hypercholesterolemia|LDLC levels; several psychiatric disorders; esophageal adenocarcinoma; breast cancer; height; Menarch|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious; Alzheimer's disease Mice homozygoous for a knock-out allele exhibit postnatal growth retardation, decreased body weight and body length, reduced IGF-I production and serum IGF-I levels, pituitary hypoplasia, decreased growth hormone level, and decreased litter size. Glucagon-type ligand receptors GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IDA|GO:0007267;cell-cell signaling;TAS|GO:0008284;positive regulation of cell proliferation;IDA|GO:0019933;cAMP-mediated signaling;IDA|GO:0021984;adenohypophysis development;IEA|GO:0030252;growth hormone secretion;IDA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0032094;response to food;IEA|GO:0040018;positive regulation of multicellular organism growth;IMP|GO:0043568;positive regulation of insulin-like growth factor receptor signaling pathway;NAS|GO:0046005;positive regulation of circadian sleep/wake cycle, REM sleep;NAS|GO:0046887;positive regulation of hormone secretion;IEA|GO:0060124;positive regulation of growth hormone secretion;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0043195;terminal bouton;IEA GO:0005179;hormone activity;IEA|GO:0016608;growth hormone-releasing hormone activity;IDA|GO:0031770;growth hormone-releasing hormone receptor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GHRH https://www.uniprot.org/uniprot/P01286 https://www.ncbi.nlm.nih.gov/omim/?term=139190 http://www.informatics.jax.org/searchtool/Search.do?query=GHRH&submit=Quick%0D%5002ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GHRH 20_50.701_78.701 Chr20:25016495-51804476 1.1 GINS1 ENSG00000101003 GINS complex subunit 1 chr20:25388363-25433264 The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008] Embryos homozygous for a knock-out allele display disorganized embryonic and extraembryonic structures and fail to develop past E5.5; mutant blastocysts fail to exhibit outgrowth in culture and show a cell proliferation defect and inner cell mass apoptosis. Unwinding of DNA GO:0001833;inner cell mass cell proliferation;IEA|GO:0006260;DNA replication;IEA|GO:0006271;DNA strand elongation involved in DNA replication;TAS|GO:0032508;DNA duplex unwinding;IEA|GO:1902983;DNA strand elongation involved in mitotic DNA replication;IBA GO:0000811;GINS complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA GO:0043138;3'-5' DNA helicase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/GINS1 https://www.uniprot.org/uniprot/Q14691 https://hpo.jax.org/app/browse/search?q=GINS1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610608 http://www.informatics.jax.org/searchtool/Search.do?query=GINS1&submit=Quick%0D%2637ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GINS1 19_20.212_38.212 Chr19:6565245-15124834 0.429 GIPC1 ENSG00000123159 GIPC PDZ domain containing family member 1 chr19:14588572-14606944 GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009] lung cancer; breast cancer; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a gene trapped allele display reduced body and heart weight, selective arteriogenesis and arterial endothelial cell defects, and impaired cardiac performance and wound healing. Mice homozygous for a knock-out allele exhibit low molecular weight proteinuria. GO:0006605;protein targeting;ISS|GO:0007186;G-protein coupled receptor signaling pathway;NAS|GO:0007268;chemical synaptic transmission;ISS|GO:0014047;glutamate secretion;ISS|GO:0030511;positive regulation of transforming growth factor beta receptor signaling pathway;ISS|GO:0031647;regulation of protein stability;ISS|GO:0032435;negative regulation of proteasomal ubiquitin-dependent protein catabolic process;ISS|GO:0032467;positive regulation of cytokinesis;IMP|GO:0043542;endothelial cell migration;ISS|GO:0048167;regulation of synaptic plasticity;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;ISS|GO:0005903;brush border;IEA|GO:0005938;cell cortex;IDA|GO:0008021;synaptic vesicle;ISS|GO:0012506;vesicle membrane;ISS|GO:0016020;membrane;IDA|GO:0030139;endocytic vesicle;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0043197;dendritic spine;ISS|GO:0043198;dendritic shaft;ISS|GO:0070062;extracellular exosome;IDA GO:0003779;actin binding;ISS|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0017022;myosin binding;ISS|GO:0030165;PDZ domain binding;IEA|GO:0042803;protein homodimerization activity;ISS|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/GIPC1 https://www.uniprot.org/uniprot/O14908 https://www.ncbi.nlm.nih.gov/omim/?term=605072 http://www.informatics.jax.org/searchtool/Search.do?query=GIPC1&submit=Quick%0D%5495ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GIPC1 12_78.016_106.016 Chr12:64973018-92996828 1.299 GLIPR1 ENSG00000139278 GLI pathogenesis related 1 chr12:75874460-75897633 This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; monocyte chemoattractant protein 1 (66-77) Targeted inactivation of this gene renders mice more vulnerable to spontaneous tumorigenesis, leading to the formation of a wide spectrum of tumors and significantly shorter tumor-free survival times. Neutrophil degranulation GO:0019216;regulation of lipid metabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0035577;azurophil granule membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/GLIPR1 https://www.uniprot.org/uniprot/P48060 https://www.ncbi.nlm.nih.gov/omim/?term=602692 http://www.informatics.jax.org/searchtool/Search.do?query=GLIPR1&submit=Quick%0D%7863ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLIPR1 12_78.016_106.016 Chr12:64973018-92996828 1.299 GLIPR1L1 ENSG00000173401 GLI pathogenesis related 1 like 1 chr12:75728419-75764340 GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLIPR1L1 https://www.ncbi.nlm.nih.gov/omim/?term=610395 http://www.informatics.jax.org/searchtool/Search.do?query=GLIPR1L1&submit=Quick%0D%13348ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLIPR1L1 12_78.016_106.016 Chr12:64973018-92996828 1.299 GLIPR1L2 ENSG00000180481 GLI pathogenesis related 1 like 2 chr12:75784850-75826468 This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GLIPR1L2 https://www.ncbi.nlm.nih.gov/omim/?term=610394 http://www.informatics.jax.org/searchtool/Search.do?query=GLIPR1L2&submit=Quick%0D%14487ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GLIPR1L2 12_78.016_106.016 Chr12:64973018-92996828 1.299 GNS ENSG00000135677 glucosamine (N-acetyl)-6-sulfatase chr12:65107225-65153227 The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008] mucopolysaccharidosis type 3D (MPS3D) Homozygous KO results in progressive lysosomal glycosaminoglycan accumulation in the central nervous system and peripheral organs and causes hypoactivity and shortened lifespan. Neutrophil degranulation GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0030203;glycosaminoglycan metabolic process;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0008449;N-acetylglucosamine-6-sulfatase activity;IEA|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GNS https://www.uniprot.org/uniprot/P15586 https://hpo.jax.org/app/browse/search?q=GNS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607664 http://www.informatics.jax.org/searchtool/Search.do?query=GNS&submit=Quick%0D%7199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GNS 19_20.212_38.212 Chr19:6565245-15124834 0.429 GPR108 ENSG00000125734 G protein-coupled receptor 108 chr19:6729925-6737614 Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma Mice homozygous for a null allele exhibit increased LPS-induced mortality. GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPR108 https://www.uniprot.org/uniprot/Q9NPR9 http://www.informatics.jax.org/searchtool/Search.do?query=GPR108&submit=Quick%0D%5821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR108 2_187.744_190.744 Chr2:174108399-175872495 0.223 GPR155 ENSG00000163328 G protein-coupled receptor 155 chr2:175296966-175351822 Tobacco Use Disorder GO:0035556;intracellular signal transduction;IEA|GO:0050890;cognition;IMP|GO:0055085;transmembrane transport;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/GPR155 http://www.informatics.jax.org/searchtool/Search.do?query=GPR155&submit=Quick%0D%10935ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR155 4_17.387_23.387 Chr4:7152608-8704080 0.68 GPR78 ENSG00000155269 G protein-coupled receptor 78 chr4:8560452-8621486 The protein encoded by this gene belongs to the G protein-coupled receptor family, which contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. This is an orphan receptor, which displays significant level of constitutive activity. Association analysis shows preliminary evidence for the involvement of this gene in susceptibility to bipolar affective disorder and schizophrenia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011] Hepatitis B; Bipolar Disorder; bipolar affective disorder schizophrenia GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IDA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/GPR78 https://www.uniprot.org/uniprot/Q96P69 https://www.ncbi.nlm.nih.gov/omim/?term=606921 http://www.informatics.jax.org/searchtool/Search.do?query=GPR78&submit=Quick%0D%9854ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR78 22_57.194_74.694 Chr22:45430165-51215481 0.519 GRAMD4 ENSG00000075240 GRAM domain containing 4 chr22:46971909-47075688 GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011] Tobacco Use Disorder GO:0006915;apoptotic process;IEA GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/GRAMD4 https://www.uniprot.org/uniprot/Q6IC98 https://www.ncbi.nlm.nih.gov/omim/?term=613691 http://www.informatics.jax.org/searchtool/Search.do?query=GRAMD4&submit=Quick%0D%1535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRAMD4 12_78.016_106.016 Chr12:64973018-92996828 1.299 GRIP1 ENSG00000155974 glutamate receptor interacting protein 1 chr12:66741211-67197966 This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010] Erythrocyte Count; Tobacco Use Disorder; schizophrenia | autism; Myocardial Infarction; Hemoglobins; schizophrenia; Platelet Count; breast cancer ; Body Height; Coronary Artery Disease; several psychiatric disorders; Neutrophils; Waist-Hip Ratio; C-Reactive Protein; Hippocampus Homozygous ablation of gene function results in embryonic lethality and blistering skin lesions. Trafficking of GluR2-containing AMPA receptors GO:0008104;protein localization;IEA|GO:0016358;dendrite development;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0035556;intracellular signal transduction;NAS|GO:0045893;positive regulation of transcription, DNA-templated;NAS GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IEA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0055037;recycling endosome;IEA GO:0003713;transcription coactivator activity;NAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;TAS|GO:0008022;protein C-terminus binding;IPI|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0035259;glucocorticoid receptor binding;IPI|GO:0050681;androgen receptor binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/GRIP1 https://www.uniprot.org/uniprot/Q9Y3R0 https://hpo.jax.org/app/browse/search?q=GRIP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604597 http://www.informatics.jax.org/searchtool/Search.do?query=GRIP1&submit=Quick%0D%9924ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GRIP1 20_50.701_78.701 Chr20:25016495-51804476 1.1 GSS ENSG00000100983 glutathione synthetase chr20:33516236-33543620 Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008] cognitive trait; lung cancer; ALS/amyotrophic lateral sclerosis; atherosclerosis; Aging/ Telomere Length; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null mutation all die before E7.5. Glutathione synthesis and recycling GO:0006520;cellular amino acid metabolic process;TAS|GO:0006750;glutathione biosynthetic process;TAS|GO:0006979;response to oxidative stress;TAS|GO:0007399;nervous system development;TAS|GO:0007568;aging;IEA|GO:0009410;response to xenobiotic stimulus;IEA|GO:0031667;response to nutrient levels;IEA|GO:0034612;response to tumor necrosis factor;IEA|GO:0043200;response to amino acid;IEA|GO:0046686;response to cadmium ion;IEA GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004363;glutathione synthase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016594;glycine binding;IEA|GO:0016874;ligase activity;IEA|GO:0042277;peptide binding;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0043295;glutathione binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GSS https://www.uniprot.org/uniprot/P48637 https://hpo.jax.org/app/browse/search?q=GSS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601002 http://www.informatics.jax.org/searchtool/Search.do?query=GSS&submit=Quick%0D%2630ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GSS 11_21.322_43.322 Chr11:11392976-25199292 1.269 GTF2H1 ENSG00000110768 general transcription factor IIH subunit 1 chr11:18343842-18388591 Chronic renal failure|Kidney Failure, Chronic; lung cancer ; Narcolepsy; multiple sclerosis; Acute-Phase Serum Amyloid A RNA Pol II CTD phosphorylation and interaction with CE GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0000717;nucleotide-excision repair, DNA duplex unwinding;TAS|GO:0006281;DNA repair;TAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006289;nucleotide-excision repair;IEA|GO:0006293;nucleotide-excision repair, preincision complex stabilization;TAS|GO:0006294;nucleotide-excision repair, preincision complex assembly;TAS|GO:0006295;nucleotide-excision repair, DNA incision, 3'-to lesion;TAS|GO:0006296;nucleotide-excision repair, DNA incision, 5'-to lesion;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006360;transcription from RNA polymerase I promoter;IBA|GO:0006361;transcription initiation from RNA polymerase I promoter;TAS|GO:0006362;transcription elongation from RNA polymerase I promoter;TAS|GO:0006363;termination of RNA polymerase I transcription;TAS|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0006370;7-methylguanosine mRNA capping;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0033683;nucleotide-excision repair, DNA incision;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0070816;phosphorylation of RNA polymerase II C-terminal domain;IBA|GO:0070911;global genome nucleotide-excision repair;TAS GO:0000439;core TFIIH complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005675;holo TFIIH complex;IDA GO:0003682;chromatin binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0008094;DNA-dependent ATPase activity;IDA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/GTF2H1 https://www.uniprot.org/uniprot/P32780 https://www.ncbi.nlm.nih.gov/omim/?term=189972 http://www.informatics.jax.org/searchtool/Search.do?query=GTF2H1&submit=Quick%0D%3990ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GTF2H1 22_57.194_74.694 Chr22:45430165-51215481 0.519 GTSE1 ENSG00000075218 G2 and S-phase expressed 1 chr22:46692638-46726707 The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; longevity The role of GTSE1 in G2/M progression after G2 checkpoint GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;NAS|GO:0007017;microtubule-based process;NAS|GO:0030335;positive regulation of cell migration;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0046827;positive regulation of protein export from nucleus;TAS|GO:0050821;protein stabilization;TAS|GO:1900182;positive regulation of protein localization to nucleus;TAS|GO:1902749;regulation of cell cycle G2/M phase transition;TAS|GO:1904527;negative regulation of microtubule binding;TAS GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;IDA|GO:0016020;membrane;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/GTSE1 https://www.uniprot.org/uniprot/Q9NYZ3 https://www.ncbi.nlm.nih.gov/omim/?term=607477 http://www.informatics.jax.org/searchtool/Search.do?query=GTSE1&submit=Quick%0D%1531ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GTSE1 20_50.701_78.701 Chr20:25016495-51804476 1.1 GTSF1L ENSG00000124196 gametocyte specific factor 1 like chr20:42354804-42355638 Alcoholism Mice homozygous for a null mutation are viable and fertile with normal testes morphology and spermatogenesis. GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/GTSF1L https://www.uniprot.org/uniprot/Q9H1H1 http://www.informatics.jax.org/searchtool/Search.do?query=GTSF1L&submit=Quick%0D%5611ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=GTSF1L 20_50.701_78.701 Chr20:25016495-51804476 1.1 HCK ENSG00000101336 HCK proto-oncogene, Src family tyrosine kinase chr20:30639991-30689659 The protein encoded by this gene is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Multiple isoforms with different subcellular distributions are produced due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) codon. [provided by RefSeq, Feb 2010] HIV; chronic obstructive pulmonary disease/COPD Macrophages from mice homozygous for a targeted null mutation exhibit impaired phagocytosis. Regulation of signaling by CBL GO:0002376;immune system process;IEA|GO:0002522;leukocyte migration involved in immune response;TAS|GO:0002758;innate immune response-activating signal transduction;TAS|GO:0006468;protein phosphorylation;TAS|GO:0006887;exocytosis;IEA|GO:0006909;phagocytosis;IEA|GO:0006954;inflammatory response;IEA|GO:0007155;cell adhesion;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0007229;integrin-mediated signaling pathway;TAS|GO:0007498;mesoderm development;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008360;regulation of cell shape;IMP|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IMP|GO:0019221;cytokine-mediated signaling pathway;TAS|GO:0030154;cell differentiation;IBA|GO:0030838;positive regulation of actin filament polymerization;TAS|GO:0031663;lipopolysaccharide-mediated signaling pathway;TAS|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043299;leukocyte degranulation;TAS|GO:0045087;innate immune response;IEA|GO:0045728;respiratory burst after phagocytosis;TAS|GO:0046777;protein autophosphorylation;IMP|GO:0050690;regulation of defense response to virus by virus;TAS|GO:0050727;regulation of inflammatory response;TAS|GO:0050764;regulation of phagocytosis;IMP|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0071801;regulation of podosome assembly;IDA|GO:2000251;positive regulation of actin cytoskeleton reorganization;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IDA|GO:0005886;plasma membrane;IDA|GO:0005901;caveola;IDA|GO:0005925;focal adhesion;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030133;transport vesicle;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IMP|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0001784;phosphotyrosine binding;IPI|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HCK https://www.uniprot.org/uniprot/P08631 https://www.ncbi.nlm.nih.gov/omim/?term=142370 http://www.informatics.jax.org/searchtool/Search.do?query=HCK&submit=Quick%0D%2712ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HCK 22_57.194_74.694 Chr22:45430165-51215481 0.519 HDAC10 ENSG00000100429 histone deacetylase 10 chr22:50683612-50689834 The protein encoded by this gene belongs to the histone deacetylase family, members of which deacetylate lysine residues on the N-terminal part of the core histones. Histone deacetylation modulates chromatin structure, and plays an important role in transcriptional regulation, cell cycle progression, and developmental events. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Type 2 Diabetes| edema | rosiglitazone; Carcinoma, Hepatocellular|Hepatitis B, Chronic|LCC - Liver cell carcinoma|Liver neoplasms; Schizophrenia HDACs deacetylate histones GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006325;chromatin organization;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006476;protein deacetylation;IDA|GO:0014003;oligodendrocyte development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0070932;histone H3 deacetylation;IEA GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA GO:0004407;histone deacetylase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;IDA|GO:0042826;histone deacetylase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/HDAC10 https://www.uniprot.org/uniprot/Q969S8 https://www.ncbi.nlm.nih.gov/omim/?term=608544 http://www.informatics.jax.org/searchtool/Search.do?query=HDAC10&submit=Quick%0D%2522ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC10 2_262.744_264.744 Chr2:240012757-240788751 0.082 HDAC4 ENSG00000068024 histone deacetylase 4 chr2:239969864-240323348 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008] Schizophrenia; Carotid artery stenosis|Carotid Stenosis; Body Weight; Triglycerides; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a gene trap allele exhibit increased thermal nociception threshold and seizures. Mice homozygous for a knock-out allele exhibit postnatal lethality, exencephaly, and abnormal skeleton morphology and physiology. RUNX3 regulates p14-ARF GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;IEA|GO:0002076;osteoblast development;IEA|GO:0006325;chromatin organization;IEA|GO:0006338;chromatin remodeling;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006476;protein deacetylation;IDA|GO:0006954;inflammatory response;TAS|GO:0007399;nervous system development;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010592;positive regulation of lamellipodium assembly;IEA|GO:0010832;negative regulation of myotube differentiation;IMP|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;TAS|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0030183;B cell differentiation;TAS|GO:0033235;positive regulation of protein sumoylation;IDA|GO:0034983;peptidyl-lysine deacetylation;IDA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0042113;B cell activation;TAS|GO:0042493;response to drug;IEA|GO:0043393;regulation of protein binding;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045820;negative regulation of glycolytic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048742;regulation of skeletal muscle fiber development;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051153;regulation of striated muscle cell differentiation;IEA|GO:0070555;response to interleukin-1;IMP|GO:0070932;histone H3 deacetylation;IDA|GO:0070933;histone H4 deacetylation;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071374;cellular response to parathyroid hormone stimulus;IEA|GO:1902894;negative regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA|GO:1903428;positive regulation of reactive oxygen species biosynthetic process;IEA GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0017053;transcriptional repressor complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031594;neuromuscular junction;IEA|GO:0031672;A band;IEA|GO:0042641;actomyosin;IEA|GO:0043234;protein complex;IEA GO:0001025;RNA polymerase III transcription factor binding;IPI|GO:0001047;core promoter binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0004407;histone deacetylase activity;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0030955;potassium ion binding;IDA|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;TAS|GO:0033613;activating transcription factor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070491;repressing transcription factor binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HDAC4 https://www.uniprot.org/uniprot/P56524 https://hpo.jax.org/app/browse/search?q=HDAC4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605314 http://www.informatics.jax.org/searchtool/Search.do?query=HDAC4&submit=Quick%0D%1272ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC4 12_78.016_106.016 Chr12:64973018-92996828 1.299 HELB ENSG00000127311 DNA helicase B chr12:66696325-66737423 This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Homozygous knockout MEFs display increased DNA end resection, resulting in increased level of single-strand DNA formation at double-strand DNA breaks. GO:0006260;DNA replication;IMP|GO:0006261;DNA-dependent DNA replication;IEA|GO:0006269;DNA replication, synthesis of RNA primer;IDA|GO:0006281;DNA repair;IEA|GO:0006396;RNA processing;IBA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0032508;DNA duplex unwinding;IEA|GO:1903775;regulation of DNA double-strand break processing;IMP|GO:2000042;negative regulation of double-strand break repair via homologous recombination;IMP GO:0005634;nucleus;IEA|GO:0005658;alpha DNA polymerase:primase complex;IDA|GO:0005662;DNA replication factor A complex;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IEA|GO:0035861;site of double-strand break;IMP GO:0000166;nucleotide binding;IEA|GO:0004003;ATP-dependent DNA helicase activity;IEA|GO:0004004;ATP-dependent RNA helicase activity;IBA|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017116;single-stranded DNA-dependent ATP-dependent DNA helicase activity;IDA|GO:0043141;ATP-dependent 5'-3' DNA helicase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HELB https://www.uniprot.org/uniprot/Q8NG08 https://www.ncbi.nlm.nih.gov/omim/?term=614539 http://www.informatics.jax.org/searchtool/Search.do?query=HELB&submit=Quick%0D%6017ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HELB 20_50.701_78.701 Chr20:25016495-51804476 1.1 HM13 ENSG00000101294 histocompatibility minor 13 chr20:30102231-30157370 The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] This is one of several loci identified by development of congenic strains differing in resistance to transplantable tumors. C57BL/10 carries the a allele and B10.129(14M) carries the b allele. GO:0006508;proteolysis;IEA|GO:0033619;membrane protein proteolysis;IDA|GO:0051289;protein homotetramerization;TAS|GO:1904211;membrane protein proteolysis involved in retrograde protein transport, ER to cytosol;IMP GO:0005765;lysosomal membrane;IBA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IC|GO:0005791;rough endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;ISS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030660;Golgi-associated vesicle membrane;IBA|GO:0036513;Derlin-1 retrotranslocation complex;IDA|GO:0071458;integral component of cytoplasmic side of endoplasmic reticulum membrane;IDA|GO:0071556;integral component of lumenal side of endoplasmic reticulum membrane;IDA GO:0004190;aspartic-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042500;aspartic endopeptidase activity, intramembrane cleaving;IDA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HM13 https://www.uniprot.org/uniprot/Q8TCT9 https://www.ncbi.nlm.nih.gov/omim/?term=607106 http://www.informatics.jax.org/searchtool/Search.do?query=HM13&submit=Quick%0D%2701ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HM13 12_78.016_106.016 Chr12:64973018-92996828 1.299 HMGA2 ENSG00000149948 high mobility group AT-hook 2 chr12:66217911-66360075 This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] null; Insulin Resistance; Type 2 Diabetes| edema | rosiglitazone; Cardiovascular Diseases|Ventricular Dysfunction, Left; Body Height; Hippocampus; Odontogenesis; Brain; Aortic root size; Bone Mineral Density; Aorta; Brain Neoplasms|Glioma; height; primary tooth development ; Height; Leiomyoma|Uterine Neoplasms; Tooth Eruption Homozygotes for null mutations exhibit proportionate dwarfing with a significant reduction in body weight, reduced amounts of fat tissue, and infertility in both sexes. Mutants have normal growth hormone levels. Formation of Senescence-Associated Heterochromatin Foci (SAHF) GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001837;epithelial to mesenchymal transition;IMP|GO:0002062;chondrocyte differentiation;IDA|GO:0003131;mesodermal-endodermal cell signaling;IMP|GO:0006284;base-excision repair;IDA|GO:0006325;chromatin organization;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007049;cell cycle;IEA|GO:0007095;mitotic G2 DNA damage checkpoint;IDA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;TAS|GO:0009615;response to virus;IEP|GO:0010564;regulation of cell cycle process;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0030261;chromosome condensation;IEA|GO:0031052;chromosome breakage;IDA|GO:0031507;heterochromatin assembly;IDA|GO:0033144;negative regulation of intracellular steroid hormone receptor signaling pathway;IEA|GO:0035978;histone H2A-S139 phosphorylation;IDA|GO:0035986;senescence-associated heterochromatin focus assembly;IDA|GO:0035987;endodermal cell differentiation;IMP|GO:0035988;chondrocyte proliferation;IDA|GO:0040008;regulation of growth;IEA|GO:0042769;DNA damage response, detection of DNA damage;IDA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043392;negative regulation of DNA binding;IDA|GO:0043922;negative regulation by host of viral transcription;IDA|GO:0045444;fat cell differentiation;IMP|GO:0045869;negative regulation of single stranded viral RNA replication via double stranded DNA intermediate;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046426;negative regulation of JAK-STAT cascade;IEA|GO:0048333;mesodermal cell differentiation;IMP|GO:0048762;mesenchymal cell differentiation;IMP|GO:0048863;stem cell differentiation;IEP|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IEA|GO:0051301;cell division;IEA|GO:0071158;positive regulation of cell cycle arrest;IDA|GO:0090402;oncogene-induced cell senescence;IDA|GO:2000036;regulation of stem cell population maintenance;IMP|GO:2000648;positive regulation of stem cell proliferation;IDA|GO:2000679;positive regulation of transcription regulatory region DNA binding;IDA|GO:2000685;positive regulation of cellular response to X-ray;IDA|GO:2000774;positive regulation of cellular senescence;IMP|GO:2001022;positive regulation of response to DNA damage stimulus;IDA|GO:2001033;negative regulation of double-strand break repair via nonhomologous end joining;IDA|GO:2001038;regulation of cellular response to drug;IDA GO:0000228;nuclear chromosome;ISS|GO:0000785;chromatin;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0032993;protein-DNA complex;IDA|GO:0035985;senescence-associated heterochromatin focus;IDA|GO:0071141;SMAD protein complex;IDA GO:0000975;regulatory region DNA binding;IDA|GO:0000989;transcription factor activity, transcription factor binding;IDA|GO:0001047;core promoter binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003680;AT DNA binding;TAS|GO:0003906;DNA-(apurinic or apyrimidinic site) lyase activity;IDA|GO:0004677;DNA-dependent protein kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008301;DNA binding, bending;IDA|GO:0019899;enzyme binding;IEA|GO:0031492;nucleosomal DNA binding;IDA|GO:0035497;cAMP response element binding;IDA|GO:0035500;MH2 domain binding;IDA|GO:0035501;MH1 domain binding;IDA|GO:0046332;SMAD binding;IPI|GO:0051575;5'-deoxyribose-5-phosphate lyase activity;IDA|GO:0070742;C2H2 zinc finger domain binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/HMGA2 https://www.uniprot.org/uniprot/P52926 https://hpo.jax.org/app/browse/search?q=HMGA2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600698 http://www.informatics.jax.org/searchtool/Search.do?query=HMGA2&submit=Quick%0D%9294ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HMGA2 20_50.701_78.701 Chr20:25016495-51804476 1.1 HNF4A ENSG00000101076 hepatocyte nuclear factor 4 alpha chr20:42984340-43061485 The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012] Kidney Failure, Chronic; Cholesterol, HDL; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; Lipoproteins, HDL; Tobacco Use Disorder; maturity onset diabetes of the young; Diabetes Mellitus, Type 2|Diabetes, Gestational; Type 2 diabetes; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; birth weight hypoglycemia; Dyslipidemias|Syndrome; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; kidney failure, chronic; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; C-Reactive Protein; Colitis, Ulcerative|; hepatic CYP3A4 expression; null; ulcerative colitis; diabetes, type 1; plasma HDL cholesterol (HDL-C) levels; Diabetes Mellitus, Type 2; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Cholesterol; Breast Neoplasms|Neutropenia; atherosclerosis; Breast Neoplasms; Colitis, Ulcerative; diabetes, gestational; diabetes, type 2 glucose insulin; Alzheimer's disease ; cholesterol metabolic syndrome triglycerides; HDL cholesterol; Chronic renal failure|Kidney Failure, Chronic Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia. Nuclear Receptor transcription pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006591;ornithine metabolic process;IMP|GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;IMP|GO:0007548;sex differentiation;IEA|GO:0007596;blood coagulation;IDA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010470;regulation of gastrulation;IEA|GO:0019216;regulation of lipid metabolic process;IDA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030308;negative regulation of cell growth;IMP|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0042593;glucose homeostasis;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050796;regulation of insulin secretion;ISS|GO:0055088;lipid homeostasis;IMP|GO:0055091;phospholipid homeostasis;ISS|GO:0060395;SMAD protein signal transduction;IEA|GO:0070328;triglyceride homeostasis;ISS|GO:2000189;positive regulation of cholesterol homeostasis;ISS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;ISS|GO:0001102;RNA polymerase II activating transcription factor binding;ISS|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IEA|GO:0003707;steroid hormone receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005102;receptor binding;IDA|GO:0005504;fatty acid binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/HNF4A https://www.uniprot.org/uniprot/P41235 https://hpo.jax.org/app/browse/search?q=HNF4A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600281 http://www.informatics.jax.org/searchtool/Search.do?query=HNF4A&submit=Quick%0D%2646ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HNF4A 19_20.212_38.212 Chr19:6565245-15124834 0.429 HNRNPM ENSG00000099783 heterogeneous nuclear ribonucleoprotein M chr19:8509651-8553998 This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs. This protein also constitutes a monomer of the N-acetylglucosamine-specific receptor which is postulated to trigger selective recycling of immature GlcNAc-bearing thyroglobulin molecules. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] Processing of Capped Intron-Containing Pre-mRNA GO:0000380;alternative mRNA splicing, via spliceosome;IMP|GO:0000398;mRNA splicing, via spliceosome;IEA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0016070;RNA metabolic process;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IDA|GO:0005730;nucleolus;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016363;nuclear matrix;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA|GO:0042382;paraspeckles;IDA|GO:0070062;extracellular exosome;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019904;protein domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HNRNPM https://www.uniprot.org/uniprot/P52272 https://www.ncbi.nlm.nih.gov/omim/?term=160994 http://www.informatics.jax.org/searchtool/Search.do?query=HNRNPM&submit=Quick%0D%2328ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HNRNPM 19_20.212_38.212 Chr19:6565245-15124834 0.429 HOOK2 ENSG00000095066 hook microtubule tethering protein 2 chr19:12873817-12983554 Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004] GO:0006810;transport;IEA|GO:0006897;endocytosis;TAS|GO:0007032;endosome organization;IMP|GO:0007040;lysosome organization;IMP|GO:0008333;endosome to lysosome transport;IMP|GO:0015031;protein transport;IEA|GO:0030705;cytoskeleton-dependent intracellular transport;IBA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0045022;early endosome to late endosome transport;IMP GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0030897;HOPS complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070695;FHF complex;IDA GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IBA|GO:0042802;identical protein binding;IPI|GO:0051959;dynein light intermediate chain binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/HOOK2 https://www.uniprot.org/uniprot/Q96ED9 https://www.ncbi.nlm.nih.gov/omim/?term=607824 http://www.informatics.jax.org/searchtool/Search.do?query=HOOK2&submit=Quick%0D%2234ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HOOK2 11_21.322_43.322 Chr11:11392976-25199292 1.269 HPS5 ENSG00000110756 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 chr11:18300223-18343745 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Metabolism; Acute-Phase Serum Amyloid A; Serum Amyloid A Protein Homozygotes have hypopigmented eyes and hair, impaired secretion of lysosomal enzymes by renal proximal tubules and reduced clotting due to a platelet dense granule defect. Homozygotes for one allele are less susceptible to diet-induced atherosclerosis. GO:0006996;organelle organization;IEA|GO:0007596;blood coagulation;IEA|GO:0043473;pigmentation;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0031084;BLOC-2 complex;IPI GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/HPS5 https://www.uniprot.org/uniprot/Q9UPZ3 https://hpo.jax.org/app/browse/search?q=HPS5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607521 http://www.informatics.jax.org/searchtool/Search.do?query=HPS5&submit=Quick%0D%3989ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS5 16_101.974_110.974 Chr16:79461830-82833302 0.225 HSD17B2 ENSG00000086696 hydroxysteroid 17-beta dehydrogenase 2 chr16:82068609-82132139 human spermatogenic defect; prostate cancer; Autism; Tobacco Use Disorder; esophageal adenocarcinoma; breast cancer|prostate cancer; breast cancer ; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; colorectal cancer; Intra-Abdominal Fat; hormone disturbance; Lymphoma, Non-Hodgkin; Chronic renal failure|Kidney Failure, Chronic; chronic obstructive pulmonary disease; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; lung cancer ; Bone Mineral Density; breast cancer; lung cancer; bladder cancer; null Mice homozygous for disruptions in this gene display embryonic lethality starting at E11.5 and placenta defects. The few mutants that survive to birth exhibit enlarged brain ventricles, cerebral cortex abnormalities and a single kidney. Estrogen biosynthesis GO:0001701;in utero embryonic development;IEA|GO:0001890;placenta development;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006703;estrogen biosynthetic process;TAS|GO:0032526;response to retinoic acid;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004303;estradiol 17-beta-dehydrogenase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0047006;17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity;TAS|GO:0047035;testosterone dehydrogenase (NAD+) activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/HSD17B2 https://www.uniprot.org/uniprot/P37059 https://www.ncbi.nlm.nih.gov/omim/?term=109685 http://www.informatics.jax.org/searchtool/Search.do?query=HSD17B2&submit=Quick%0D%1934ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HSD17B2 11_21.322_43.322 Chr11:11392976-25199292 1.269 HTATIP2 ENSG00000109854 HIV-1 Tat interactive protein 2 chr11:20385231-20405329 Inactivation of this gene increases susceptibility to tumorigenesis. GO:0001525;angiogenesis;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006915;apoptotic process;IEA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0030154;cell differentiation;IEA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045765;regulation of angiogenesis;IDA|GO:0051170;nuclear import;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;TAS|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HTATIP2 https://www.uniprot.org/uniprot/Q9BUP3 https://www.ncbi.nlm.nih.gov/omim/?term=605628 http://www.informatics.jax.org/searchtool/Search.do?query=HTATIP2&submit=Quick%0D%3894ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HTATIP2 4_17.387_23.387 Chr4:7152608-8704080 0.68 HTRA3 ENSG00000170801 HtrA serine peptidase 3 chr4:8271492-8308838 Cholesterol, LDL; Tobacco Use Disorder GO:0001558;regulation of cell growth;IEA|GO:0006508;proteolysis;IDA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IEA|GO:0030514;negative regulation of BMP signaling pathway;IEA GO:0005576;extracellular region;IEA GO:0004175;endopeptidase activity;IDA|GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0005520;insulin-like growth factor binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/HTRA3 https://www.ncbi.nlm.nih.gov/omim/?term=608785 http://www.informatics.jax.org/searchtool/Search.do?query=HTRA3&submit=Quick%0D%12778ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=HTRA3 19_20.212_38.212 Chr19:6565245-15124834 0.429 ICAM1 ENSG00000090339 intercellular adhesion molecule 1 chr19:10381511-10397291 This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008] transplant associated vasculopathy after cardiac transplantation; Brain Ischemia|Stroke; Migraine Disorders; cerebrovascular disease; sickle cell anemia; inflammatory bowel disease ; Graves Disease|Graves' Disease; Intercellular Adhesion Molecule-1; myocardial infarct; hematology indices; coronary heart disease; myocardial infarction; diabetes, type 1 diabetic nephropathy; Arthritis, Rheumatoid|Rheumatoid Arthritis; arthritis, rheumatoid; erythema nodosum; Atherosclerosis; Coronary Artery Disease|; Erythema Nodosum|Sarcoidosis; Alzheimer's disease; Parkinson's disease; celiac disease; Arthritis, Rheumatoid; Behcets disease; Lymphoma, Large B-Cell, Diffuse; lung cancer; atherosclerosis, coronary; diabetes, type 1; null; bone density; benzene haematotoxicity; asthma; melanoma|Skin Neoplasms; Glomerulonephritis, IGA; colorectal cancer; multiple sclerosis; Malaria, Falciparum; Hypercholesterolemia|LDLC levels; Chronic renal failure|Kidney Failure, Chronic; Angina Pectoris; giant cell arteritis; graves' ophthalmopathy; Premature Birth; breast cancer ; Bleeding After Cardiac Surgery; Amyotrophic Lateral Sclerosis|; Alzheimer's disease; Vertebral Artery Dissection; arthritis; respiratory syncytial virus; esophageal cancer; atherosclerosis; Behcet Syndrome; Cardiovascular Diseases|Thrombosis; Arterial Occlusive Diseases; Hepatitis C|Remission, Spontaneous; Crohn's disease ulcerative colitis; vascular dementia; pancreatitis, chronic; allergies; common cold; Recurrence|Venous Thromboembolism; Peripheral Vascular Diseases; Biliary Atresia; renal allograft rejection; Multiple Sclerosis; Cardiovascular Diseases|; Kidney Failure, Chronic; Insulin Resistance|Metabolic Syndrome X; Inflammation|Venous Thromboembolism; respiratory syncytial virus bronchiolitis; Endometriosis; Coronary Disease|Coronary heart disease; Uveitis, Anterior; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Arthritis, Rheumatoid|; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; inflammatory bowel disease; Astrocytoma; pulse wave velocity; periodontitis; Lymphoma, Non-Hodgkin; renal scarring urinary tract infection; Kidney Diseases; Polymyalgia Rheumatica|Recurrence|Vasculitis; retinopathy, diabetic; Leukemia, Promyelocytic, Acute|Syndrome; Chlamydia Infections|Inflammation|Trachoma; HIV; Albuminuria|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance; malaria; Graves' disease; Crohn's disease; ulcerative colitis; Dengue Hemorrhagic Fever; Arterial Occlusive Diseases|Diabetes Complications|Myocardial Infarction|Peripheral Arterial Disease|Peripheral Arterial Diseases; polymyalgia rheumatica/giant cell arteritis; chronic obstructive pulmonary disease; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Restenosis; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Adult Respiratory Distress Syndrome|Community-Acquired Infections|Pneumonia|Respiratory Distress Syndrome, Adult|Septic Shock|Shock, Septic; schizophrenia; soluble ICAM-1; gastroschisis; Gastrointestinal Hemorrhage|Henoch-Schoenlein Purpura|Kidney Diseases|Purpura, Schoenlein-Henoch|Vasculitis; Q fever; Pseudoxanthoma Elasticum; TPA-induced apoptosis; Thrombosis; restenosis; Type 2 diabetes; Coronary Artery Disease|Inflammation; bladder cancer; stroke, ischemic; Myocardial Infarction; Coronary Disease; Acute Coronary Syndrome|; Leukemia, Lymphocytic, Chronic, B-Cell; Cholangitis, Sclerosing; Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Retinopathy; Diabetes Mellitus, Type 1|Diabetic Nephropathies|; Stroke; bone marrow transplantation; Atherosclerosis|Obesity; Multiple Myeloma; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Alzheimer's Disease; Crohn's disease; Malaria; thrombosis, venous; Alzheimer's disease ; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Retinopathy; dementia, vascular; coronary heart disease, transplant associated; cholangitis, sclerosing; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Fibrosis|Hepatitis B, Chronic; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; malignant melanoma; prostate cancer; Meningeal Neoplasms|meningioma; lung cancer ; epithelial ovarian cancer ; Type 2 Diabetes| edema | rosiglitazone; multiple system atrophy; Biliary Atresia|; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Brain Ischemia|Inflammation|Stroke; diabetes, type 2; endometriosis; Cardiovascular Diseases; Coronary Artery Disease|Myocardial Infarction Homozygous mutation of this gene results in impaired inflammatory and immune responses. Interferon gamma signaling GO:0001541;ovarian follicle development;IEA|GO:0001666;response to hypoxia;IEA|GO:0001910;regulation of leukocyte mediated cytotoxicity;TAS|GO:0001975;response to amphetamine;IEA|GO:0002291;T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell;IMP|GO:0002438;acute inflammatory response to antigenic stimulus;IEA|GO:0002457;T cell antigen processing and presentation;IEA|GO:0002693;positive regulation of cellular extravasation;IMP|GO:0007155;cell adhesion;IDA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;TAS|GO:0007159;leukocyte cell-cell adhesion;IMP|GO:0007569;cell aging;IEA|GO:0007605;sensory perception of sound;IEA|GO:0008360;regulation of cell shape;IEA|GO:0010212;response to ionizing radiation;IEA|GO:0010477;response to sulfur dioxide;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016032;viral process;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0022614;membrane to membrane docking;IEP|GO:0030155;regulation of cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030838;positive regulation of actin filament polymerization;IEA|GO:0031669;cellular response to nutrient levels;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032868;response to insulin;IEA|GO:0033627;cell adhesion mediated by integrin;IEA|GO:0034698;response to gonadotropin;IEA|GO:0042493;response to drug;IEA|GO:0043200;response to amino acid;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0044406;adhesion of symbiont to host;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IEA|GO:0045471;response to ethanol;IEA|GO:0045907;positive regulation of vasoconstriction;IEA|GO:0046688;response to copper ion;IEA|GO:0046718;viral entry into host cell;IEA|GO:0046813;receptor-mediated virion attachment to host cell;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;IEP|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA|GO:0051926;negative regulation of calcium ion transport;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0061028;establishment of endothelial barrier;IGI|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071312;cellular response to alkaloid;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071346;cellular response to interferon-gamma;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0090557;establishment of endothelial intestinal barrier;IEA|GO:0097368;establishment of Sertoli cell barrier;IEA|GO:1900027;regulation of ruffle assembly;IEA|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:1904996;positive regulation of leukocyte adhesion to vascular endothelial cell;IEA|GO:2000352;negative regulation of endothelial cell apoptotic process;IDA GO:0001772;immunological synapse;IEA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0001618;virus receptor activity;IEA|GO:0004872;receptor activity;TAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0005178;integrin binding;IDA|GO:0005515;protein binding;IPI|GO:0032403;protein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ICAM1 https://www.uniprot.org/uniprot/P05362 https://www.ncbi.nlm.nih.gov/omim/?term=147840 http://www.informatics.jax.org/searchtool/Search.do?query=ICAM1&submit=Quick%0D%2094ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ICAM1 19_20.212_38.212 Chr19:6565245-15124834 0.429 ICAM3 ENSG00000076662 intercellular adhesion molecule 3 chr19:10444452-10450499 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016] Chronic renal failure|Kidney Failure, Chronic; Hepatitis C|Remission, Spontaneous; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma; Arthritis, Rheumatoid|; Severe Acute Respiratory Syndrome; lactate dehydrogenase severe acute respiratory syndrome Homozygous mutant mice exhibit enhanced long-term potentiation, sensorimotor gating, and reward-based learning. CD209 (DC-SIGN) signaling GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005102;receptor binding;TAS|GO:0005178;integrin binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ICAM3 https://www.uniprot.org/uniprot/P32942 https://www.ncbi.nlm.nih.gov/omim/?term=146631 http://www.informatics.jax.org/searchtool/Search.do?query=ICAM3&submit=Quick%0D%1591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ICAM3 19_20.212_38.212 Chr19:6565245-15124834 0.429 ICAM4 ENSG00000105371 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) chr19:10397643-10399198 This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] benzene haematotoxicity; Multiple Myeloma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Intercellular Adhesion Molecule-1; Type 2 diabetes; Brain Ischemia|Stroke; Hepatitis C|Remission, Spontaneous; Meningeal Neoplasms|meningioma; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit decreased erythroblastic island formation. Integrin cell surface interactions GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0050776;regulation of immune response;TAS GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0005178;integrin binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/ICAM4 https://www.uniprot.org/uniprot/Q14773 https://www.ncbi.nlm.nih.gov/omim/?term=614088 http://www.informatics.jax.org/searchtool/Search.do?query=ICAM4&submit=Quick%0D%3286ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ICAM4 19_20.212_38.212 Chr19:6565245-15124834 0.429 ICAM5 ENSG00000105376 intercellular adhesion molecule 5 chr19:10400657-10407454 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq, Jul 2008] Multiple Myeloma; prostate cancer; Meningeal Neoplasms|meningioma; breast cancer ; Type 2 Diabetes| edema | rosiglitazone; Hepatitis C|Remission, Spontaneous; benzene haematotoxicity; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer Homozygous mutant mice exhibit enhanced long-term potentiation, sensorimotor gating, and reward-based learning. Integrin cell surface interactions GO:0006909;phagocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005178;integrin binding;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ICAM5 https://www.uniprot.org/uniprot/Q9UMF0 https://www.ncbi.nlm.nih.gov/omim/?term=601852 http://www.informatics.jax.org/searchtool/Search.do?query=ICAM5&submit=Quick%0D%3290ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ICAM5 20_50.701_78.701 Chr20:25016495-51804476 1.1 ID1 ENSG00000125968 inhibitor of DNA binding 1, HLH protein chr20:30193086-30194318 The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Bone Mineral Density Homozygotes for knockout alleles of both Id1 and Id3 exhibit vascular malformations in the forebrain, lack of vascular branching and sprouting in the neuroectoderm, and impaired angiogenesis in transplanted and spontaneous tumors. Oncogene Induced Senescence GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001525;angiogenesis;TAS|GO:0001886;endothelial cell morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007275;multicellular organism development;IEA|GO:0007420;brain development;IEA|GO:0007507;heart development;IEA|GO:0007623;circadian rhythm;IEA|GO:0010621;negative regulation of transcription by transcription factor localization;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0030182;neuron differentiation;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0031648;protein destabilization;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0032233;positive regulation of actin filament bundle assembly;IEA|GO:0032963;collagen metabolic process;IEA|GO:0036164;cell-abiotic substrate adhesion;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043392;negative regulation of DNA binding;IEA|GO:0043408;regulation of MAPK cascade;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043534;blood vessel endothelial cell migration;TAS|GO:0045602;negative regulation of endothelial cell differentiation;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045765;regulation of angiogenesis;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0046677;response to antibiotic;IEA|GO:0048511;rhythmic process;IEA|GO:0048514;blood vessel morphogenesis;TAS|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050774;negative regulation of dendrite morphogenesis;IEA|GO:0060425;lung morphogenesis;IEA|GO:0060426;lung vasculature development;IEA|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0090074;negative regulation of protein homodimerization activity;IEA|GO:1901342;regulation of vasculature development;IEA|GO:1901653;cellular response to peptide;IEA|GO:1903026;negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:1903351;cellular response to dopamine;IEA|GO:1990090;cellular response to nerve growth factor stimulus;IEA GO:0005634;nucleus;IC|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IEA GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0008134;transcription factor binding;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0043621;protein self-association;IEA|GO:0046983;protein dimerization activity;IEA|GO:0047485;protein N-terminus binding;IEA|GO:0070628;proteasome binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ID1 https://www.uniprot.org/uniprot/P41134 https://www.ncbi.nlm.nih.gov/omim/?term=600349 http://www.informatics.jax.org/searchtool/Search.do?query=ID1&submit=Quick%0D%5890ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ID1 19_20.212_38.212 Chr19:6565245-15124834 0.429 IER2 ENSG00000160888 immediate early response 2 chr19:13261229-13265722 GO:0030182;neuron differentiation;ISS|GO:0048870;cell motility;IMP|GO:0071774;response to fibroblast growth factor;ISS GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA GO:0003677;DNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/IER2 http://www.informatics.jax.org/searchtool/Search.do?query=IER2&submit=Quick%0D%10528ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IER2 12_78.016_106.016 Chr12:64973018-92996828 1.299 IFNG ENSG00000111537 interferon gamma chr12:68548548-68553527 This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015] Esophageal Neoplasms|Hyperglycemia|Oesophageal neoplasm; pancreatitis, chronic; celiac disease; Adenocarcinoma|Cachexia|Pancreatic Neoplasms|Pancreatitis; Leptospirosis|Swamp fever; graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis; Hodgkin Disease|Lymphoma|Lymphoma, Non-Hodgkin; Type 2 Diabetes| edema | rosiglitazone; Helicobacter Infections; Inflammation; SIDS/sudden infant death syndrome; arthritis; Parkinson's disease ; Common Variable Immunodeficiency; Psoriasis; preterm delivery; leukemia; Sarcoidosis, Pulmonary; coronary vasculopathy; pulmonary fibrosis; Communicable Diseases|Severe Acute Respiratory Syndrome; Hodgkin's disease; pancreatic cancer; liver transplant; diabetes, type 2; lymphoproliferative disorders, post-transplant; schistosoma mansoni; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; rheumatoid arthritis; brucellosis; stomach cancer; proliferative vitreoretinopathy rhegmatogenous retinal detachment; pregnancy loss; Bronchiolitis, Viral; renal transplantation, protein secretion in; childhood atopic asthma; kidney transplant; bullous pemphigoid; Inflammation|Premature Birth; Hepatitis C, Chronic|Liver Cirrhosis; renal allograft outcome; systemic lupus erythematosus; panencephalitis, subacute sclerosing; heart transplant; Tuberculosis, Pulmonary; esophageal cancer ; Dawson's inclusion body encephalitis|Subacute Sclerosing Panencephalitis; G6PD deficiency; SARS (severe acute respiratory syndrome); Respiratory Syncytial Virus Infections; Behcet Syndrome|; hepatitis C; longevity; Wegener's granulomatosis; multiple sclerosis; Cardiovascular Disease; nephropathy, IgA; juvenile arthritis; Common Cold|Otitis Media|Picornaviridae Infections; Asthma|; Common Variable Immunodeficiency|Cytomegalovirus Infections|Graft vs Host Disease|Hematologic Diseases|Recurrence; parvovirus; graft rejection, liver; heart transplant complications; anemia C-reactive protein; rubella vaccination; Helicobacter Infections|Inflammation|Precancerous Conditions|Stomach Neoplasms; liver disease; hepatitis C, chronic; Alphavirus Infections|Infectious Mononucleosis|Q Fever; Graves Disease|Hashimoto Disease; kidney transplant complications; Longevity; cytomegalovirus; sarcoidosis; Lymphoma, Non-Hodgkin; Wounds and Injuries; Hepatitis B, Chronic; Graft vs Host Disease|Hematologic Neoplasms|Neoplasm Recurrence, Local; birth weight perinatal complications; Graves' disease Hashimoto's thryoiditis; tuberculosis ; trypanosomiasis; Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis|Thoracic Neoplasms; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Acute Coronary Syndrome; Graves' disease; kidney graft survival; preeclampsia; psoriasis psoriatic arthritis; cervical cancer; liver transplantation, immunosuppression after; carotid plaque; Angina Pectoris|Coronary Artery Disease|Inflammation|Myocardial Infarction; atherosclerosis, coronary; Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate; mood disorders; Periodontitis; kidney; failure|Renal Insufficiency; arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI; Asthma; Chagas Cardiomyopathy|Chagas Disease; Cardiovascular Diseases; malaria; breast cancer; dermatitis and eczema; hepatitis B, intrauterine; Abortion, Spontaneous; Tobacco Use Disorder; inflammatory bowel disease; Rubella vaccine, cytokine response to; plasma HDL cholesterol (HDL-C) levels; Glomerulonephritis, IGA|IGA Glomerulonephritides|Recurrence; lung transplant complications; renal allograft rejection; Cervical Intraepithelial Neoplasia|Papillomavirus Infections|Uterine Cervical Neoplasms; Hepatitis C|Remission, Spontaneous; esophageal adenocarcinoma; Purpura, Thrombocytopenic, Idiopathic|Werlhof's disease; normal variation; Respiratory Tract Infections; ulcerative colitis; Autoimmune Diseases|Gastritis; disc disease, intervertebral; diabetes, type 1; hepatitis C, chronic; periodontitis; Infection|Inflammation|Premature Birth; Cervical Intraepithelial Neoplasia; angiomyolipomas, renal; Carcinoma, Hepatocellular|Diabetes Complications|Diabetes Mellitus|Inflammation|Liver Neoplasms; Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema; Drug Hypersensitivity; desensitization in solid organ transplant recipients ; Graves ophthalmopathy; Anemia, Aplastic|; Bronchiolitis|Respiratory Syncytial Virus Infections; Myocardial Infarction; Scleroderma, Systemic|Skin Ulcer|Systemic Scleroderma; sarcoidosis; tuberculosis; psoriasis; leishmaniasis; Alzheimer's disease; Multiple Organ Failure|Multiple Trauma|Sepsis|Systemic infection; Atherosclerosis|Carotid artery stenosis|Carotid Stenosis|Inflammation; Epstein-Barr virus reactivation; aplastic anemia, acquired; cirrhosis hepatitis C, chronic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|Liver Cirrhosis; longevity; bladder cancer; renal transplant; Arthritis, Reactive|Campylobacter Infections|Salmonella Infections; sepsis; Leukemia, Lymphocytic, Chronic, B-Cell; Nasopharyngeal Neoplasms; Anemia, Sickle Cell|Bacterial Infections|Enterobacteriaceae Infections|Osteomyelitis|Sepsis|Sickle cell anemia|Staphylococcal Infections|Systemic infection|Unspecified osteomyelitis NOS; colorectal cancer; Alzheimer's Disease; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Omenn syndrome severe combined immunideficiency; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; atopic asthma; Sjogren's syndrome; purpura; tuberculosis; arthritis, rheumatoid; recurrent pregnancy loss; Irritable Bowel Syndrome; Lymphadenitis|Tuberculosis|Tuberculosis, Pulmonary; giant cell arteritis; polymyalgia rheumatica; parvovirus B19 infection; acute and chronic kidney transplant outcome; leishmaniasis, post-kala-azar; Cardiovascular Diseases|Inflammation; Aggressive Periodontitis|Periodontitis, Juvenile; Endometriosis; graft-vs-host disease; H. pylori infection; Uveomeningoencephalitic Syndrome; Graves' disease Hashimoto's thyroiditis; graft versus host disease; bone marrow transplantation; Hepatitis B; Hepatitis B|Hepatitis C|Reperfusion Injury; Lymphoma, Large B-Cell, Diffuse; lung cancer ; graft-versus-host disease; pregnancy loss, recurrent; Common Cold|; graves' ophthalmopathy; oral lichen planus; melanoma; cervical intraepithelial neoplasia grade 3; Lymphocytosis|Lymphoproliferative Disorders; Anemia, Aplastic|Aplastic anemia; lung cancer; hepatitis C; Schistosoma mansoni infection; cardiomyopathy; heart anomalies, congenital; heart failure; Fractures, Bone|Osteoporotic Fractures; Endotoxemia; pancreatitis; respiratory syncytial virus bronchiolitis; Boutonneuse Fever|; pemphigus vulgaris; Sjogren's syndrome; giant cell arteritis; myasthenia gravis; hepatitis C infection; chronic fatigue syndrome; hepatitis B and C virus infection; Dengue Hemorrhagic Fever; Scleroderma, Systemic; Coronary Disease; Chorioretinitis|Ocular Toxoplasmosis|Toxoplasmosis, Ocular; Tuberculosis|Tuberculosis, Pulmonary; Arthritis|Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Hepatitis B, Chronic|Viremia; malaria, plasmodium falciparum; Epstein-Barr Virus Infections|Lymphoproliferative Disorders; hepatitis B; preterm birth; Hepatitis C|Pregnancy Complications, Infectious; bronchiolitis; Leprosy; Infection|Postoperative Complications; leukemia, acute myeloid; longevity; myelodysplasia; allograft outcome; kidney angiomyolipomas; Diabetes mellitus|Myocardial Infarction; allergic rhinitis; cell-surface B7 expression; cytokine production; lung function; Severe Acute Respiratory Syndrome; Lichen Planus, Oral; leishmaniasis, cutaneous; interstitial lung diseases; allergies; common cold; smoking cessation; asthma; bronchiectasis; liver cancer; SPT; patent ductus arteriosus; measles vaccine immunity; Toxoplasmosis, Ocular; Osteolysis|Prosthesis Failure; Sarcoidosis; Chronic renal failure|Kidney Failure, Chronic; Q fever; respiratory syncytial virus; lung allograft fibrosis; hepatitis B, chronic IgE; Langerhans cell histiocytosis; Kidney Diseases; Chlamydia Infections|Infertility, Female; Hepatitis C; Brucellosis; Grave`s disease; uveitis; HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate; tryptophan catabolism; null; Clonorchiasis|Fibrosis; Vitiligo; Lung Diseases; atopy; Tuberculosis; bronchodilator response; atherosclerosis; Neovascularization, Pathologic|Retinal Vasculitis; kidney cancer; nephropathy; HIV; endometriosis; aplastic anemia; Graves Disease|Graves' Disease; hepatitis C; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Body Mass Index; c-reactive protein cytokine mRNA; hepatitis E; idiopathic inflammatory myopathies; Acquired Immunodeficiency Syndrome|HIV Infections|[X]Human immunodeficiency virus disease; bronchiolitis obliterans syndrome; coeliac disease; paratyphoid feber typhoid fever; Gingival Hemorrhage|Periodontal Pocket|Periodontitis Mutants show immune system abnormalities including decreased inflammatory response in one line, and uncontrolled splenocyte proliferation and susceptibility to intracellular pathogens in another. Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation GO:0000060;protein import into nucleus, translocation;IDA|GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001781;neutrophil apoptotic process;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0002026;regulation of the force of heart contraction;IEA|GO:0002250;adaptive immune response;IEA|GO:0002302;CD8-positive, alpha-beta T cell differentiation involved in immune response;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IGI|GO:0006925;inflammatory cell apoptotic process;IEA|GO:0006928;movement of cell or subcellular component;TAS|GO:0006955;immune response;IEA|GO:0006959;humoral immune response;IEA|GO:0007050;cell cycle arrest;IDA|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009615;response to virus;IDA|GO:0010508;positive regulation of autophagy;IDA|GO:0010628;positive regulation of gene expression;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0010634;positive regulation of epithelial cell migration;IDA|GO:0010835;regulation of protein ADP-ribosylation;IDA|GO:0019882;antigen processing and presentation;IEA|GO:0030593;neutrophil chemotaxis;IEA|GO:0030857;negative regulation of epithelial cell differentiation;IEA|GO:0030968;endoplasmic reticulum unfolded protein response;IEA|GO:0031334;positive regulation of protein complex assembly;IDA|GO:0031642;negative regulation of myelination;IEA|GO:0032224;positive regulation of synaptic transmission, cholinergic;IEA|GO:0032700;negative regulation of interleukin-17 production;IDA|GO:0032735;positive regulation of interleukin-12 production;IDA|GO:0032747;positive regulation of interleukin-23 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IEA|GO:0032834;positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response;IDA|GO:0033141;positive regulation of peptidyl-serine phosphorylation of STAT protein;NAS|GO:0033160;positive regulation of protein import into nucleus, translocation;IDA|GO:0034393;positive regulation of smooth muscle cell apoptotic process;IDA|GO:0040008;regulation of growth;IEA|GO:0042102;positive regulation of T cell proliferation;IEA|GO:0042493;response to drug;IEA|GO:0042531;positive regulation of tyrosine phosphorylation of STAT protein;IDA|GO:0042742;defense response to bacterium;IEA|GO:0042832;defense response to protozoan;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0044146;negative regulation of growth of symbiont involved in interaction with host;IEA|GO:0045080;positive regulation of chemokine biosynthetic process;IEA|GO:0045084;positive regulation of interleukin-12 biosynthetic process;IEA|GO:0045348;positive regulation of MHC class II biosynthetic process;IEA|GO:0045410;positive regulation of interleukin-6 biosynthetic process;IEA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IDA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045672;positive regulation of osteoclast differentiation;IDA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048147;negative regulation of fibroblast proliferation;IEA|GO:0048304;positive regulation of isotype switching to IgG isotypes;IEA|GO:0048662;negative regulation of smooth muscle cell proliferation;IDA|GO:0050691;regulation of defense response to virus by host;IEA|GO:0050718;positive regulation of interleukin-1 beta secretion;IEA|GO:0050776;regulation of immune response;IEA|GO:0050796;regulation of insulin secretion;IDA|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050954;sensory perception of mechanical stimulus;IEA|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051607;defense response to virus;IEA|GO:0051712;positive regulation of killing of cells of other organism;IDA|GO:0060251;regulation of glial cell proliferation;IEA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:0060334;regulation of interferon-gamma-mediated signaling pathway;TAS|GO:0060550;positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity;IDA|GO:0060552;positive regulation of fructose 1,6-bisphosphate metabolic process;IDA|GO:0060557;positive regulation of vitamin D biosynthetic process;IDA|GO:0060559;positive regulation of calcidiol 1-monooxygenase activity;IDA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071351;cellular response to interleukin-18;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:0072125;negative regulation of glomerular mesangial cell proliferation;IEA|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;IDA|GO:0090312;positive regulation of protein deacetylation;IDA|GO:0097191;extrinsic apoptotic signaling pathway;IDA|GO:0098908;regulation of neuronal action potential;IEA|GO:1903543;positive regulation of exosomal secretion;IDA|GO:1904798;positive regulation of core promoter binding;IDA|GO:2000309;positive regulation of tumor necrosis factor (ligand) superfamily member 11 production;IDA|GO:2000345;regulation of hepatocyte proliferation;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0009897;external side of plasma membrane;IEA|GO:0043005;neuron projection;IEA|GO:0043204;perikaryon;IEA GO:0005125;cytokine activity;IEA|GO:0005133;interferon-gamma receptor binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/IFNG https://www.uniprot.org/uniprot/P01579 https://hpo.jax.org/app/browse/search?q=IFNG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147570 http://www.informatics.jax.org/searchtool/Search.do?query=IFNG&submit=Quick%0D%4086ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFNG 20_50.701_78.701 Chr20:25016495-51804476 1.1 IFT52 ENSG00000101052 intraflagellar transport 52 chr20:42219571-42275936 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY Mice homozygous for a transgenic gene disruption exhibit embryonic lethality between E9 and E10. Intraflagellar transport GO:0001841;neural tube formation;IEA|GO:0001947;heart looping;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0030030;cell projection organization;IEA|GO:0035720;intraciliary anterograde transport;IMP|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0042733;embryonic digit morphogenesis;IEA|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0060271;cilium assembly;IMP|GO:0070613;regulation of protein processing;IEA|GO:1905515;non-motile cilium assembly;IEA GO:0005813;centrosome;IEA|GO:0005814;centriole;IEA|GO:0005929;cilium;TAS|GO:0030992;intraciliary transport particle B;IEA|GO:0031514;motile cilium;ISS|GO:0032391;photoreceptor connecting cilium;IEA|GO:0042995;cell projection;IEA|GO:0044292;dendrite terminus;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IEA GO:0008022;protein C-terminus binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/IFT52 https://www.uniprot.org/uniprot/Q9Y366 https://hpo.jax.org/app/browse/search?q=IFT52&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617094 http://www.informatics.jax.org/searchtool/Search.do?query=IFT52&submit=Quick%0D%2643ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IFT52 11_21.322_43.322 Chr11:11392976-25199292 1.269 IGSF22 ENSG00000179057 immunoglobulin superfamily member 22 chr11:18725852-18747777 GO:0006941;striated muscle contraction;IBA|GO:0007015;actin filament organization;IBA|GO:0045214;sarcomere organization;IBA|GO:0071688;striated muscle myosin thick filament assembly;IBA GO:0005859;muscle myosin complex;IBA|GO:0030018;Z disc;IBA|GO:0031430;M band;IBA GO:0008307;structural constituent of muscle;IBA|GO:0051015;actin filament binding;IBA|GO:0051371;muscle alpha-actinin binding;IBA|GO:0097493;structural molecule activity conferring elasticity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IGSF22 http://www.informatics.jax.org/searchtool/Search.do?query=IGSF22&submit=Quick%0D%14282ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IGSF22 16_129.974_134.474 Chr16:87933002-90108832 0.174 IL17C ENSG00000124391 interleukin 17C chr16:88704999-88706881 The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008] Meningeal Neoplasms|meningioma; HIV; Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma Mice homozygous for a reporter allele exhibit decreased susceptibility to experimental autoimmune encephalomyelitis. Mice homozygous for a knock-out allele exhibit increased susceptibility to induced psoriasis. Interleukin-17 signaling GO:0006954;inflammatory response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0007267;cell-cell signaling;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS GO:0005125;cytokine activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/IL17C https://www.uniprot.org/uniprot/Q9P0M4 https://www.ncbi.nlm.nih.gov/omim/?term=604628 http://www.informatics.jax.org/searchtool/Search.do?query=IL17C&submit=Quick%0D%5652ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17C 22_57.194_74.694 Chr22:45430165-51215481 0.519 IL17REL ENSG00000188263 interleukin 17 receptor E like chr22:50432942-50451088 Colitis, Ulcerative GO:0019221;cytokine-mediated signaling pathway;IEA GO:0005887;integral component of plasma membrane;IBA GO:0030368;interleukin-17 receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/IL17REL https://www.ncbi.nlm.nih.gov/omim/?term=613414 http://www.informatics.jax.org/searchtool/Search.do?query=IL17REL&submit=Quick%0D%15997ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL17REL 12_78.016_106.016 Chr12:64973018-92996828 1.299 IL22 ENSG00000127318 interleukin 22 chr12:68642022-68647387 Colonic Neoplasms; bronchodilator response; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hepatitis C; ulcerative colitis; respiratory syncytial virus bronchiolitis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; smoking cessation; Psoriasis; Blood Pressure Mutation of this locus results in abnormalities in Il23-induced dermal inflammation and acanthosis. Interleukin-19,20,22,24,26,28 and 29 signaling GO:0006953;acute-phase response;NAS|GO:0006954;inflammatory response;NAS|GO:0007267;cell-cell signaling;IC|GO:0051384;response to glucocorticoid;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA GO:0005125;cytokine activity;IEA|GO:0005515;protein binding;IPI|GO:0045518;interleukin-22 receptor binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/IL22 https://www.uniprot.org/uniprot/Q9GZX6 https://www.ncbi.nlm.nih.gov/omim/?term=605330 http://www.informatics.jax.org/searchtool/Search.do?query=IL22&submit=Quick%0D%6019ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL22 12_78.016_106.016 Chr12:64973018-92996828 1.299 IL26 ENSG00000111536 interleukin 26 chr12:68595131-68619601 This gene was identified by its overexpression specifically in herpesvirus samimiri-transformed T cells. The encoded protein is a member of the IL10 family of cytokines. It is a secreted protein and may function as a homodimer. This protein is thought to contribute to the transformed phenotype of T cells after infection by herpesvirus samimiri. [provided by RefSeq, Jul 2008] Colitis, Ulcerative; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; respiratory syncytial virus bronchiolitis; Body Weight Changes; multiple sclerosis; rheumatoid arthritis; Body Mass Index; smoking cessation; ulcerative colitis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Tobacco Use Disorder GO:0007267;cell-cell signaling;TAS|GO:0032874;positive regulation of stress-activated MAPK cascade;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046427;positive regulation of JAK-STAT cascade;IDA|GO:0050680;negative regulation of epithelial cell proliferation;IDA|GO:0050715;positive regulation of cytokine secretion;IDA|GO:0051897;positive regulation of protein kinase B signaling;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005829;cytosol;IDA GO:0005125;cytokine activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/IL26 https://www.uniprot.org/uniprot/Q9NPH9 https://www.ncbi.nlm.nih.gov/omim/?term=605679 http://www.informatics.jax.org/searchtool/Search.do?query=IL26&submit=Quick%0D%4085ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL26 19_20.212_38.212 Chr19:6565245-15124834 0.429 IL27RA ENSG00000104998 interleukin 27 receptor subunit alpha chr19:14142560-14163743 In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq, Jul 2008] Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; respiratory syncytial virus bronchiolitis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections T helper 1 response and responses to parasitic and bacterial infection are altered in homozygous mutant mice. Interleukin-12 family signaling GO:0002827;positive regulation of T-helper 1 type immune response;IEA|GO:0002829;negative regulation of type 2 immune response;IEA|GO:0006955;immune response;TAS|GO:0007166;cell surface receptor signaling pathway;TAS|GO:0032729;positive regulation of interferon-gamma production;IEA|GO:0048302;regulation of isotype switching to IgG isotypes;IEA|GO:0050830;defense response to Gram-positive bacterium;IEA|GO:0070106;interleukin-27-mediated signaling pathway;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004888;transmembrane signaling receptor activity;TAS|GO:0045509;interleukin-27 receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/IL27RA https://www.uniprot.org/uniprot/Q6UWB1 https://www.ncbi.nlm.nih.gov/omim/?term=605350 http://www.informatics.jax.org/searchtool/Search.do?query=IL27RA&submit=Quick%0D%3224ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IL27RA 19_20.212_38.212 Chr19:6565245-15124834 0.429 ILF3 ENSG00000129351 interleukin enhancer binding factor 3 chr19:10764937-10803093 This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein (NF90, ILF3) forms a heterodimer with a 45 kDa transcription factor (NF45, ILF2) required for T-cell expression of interleukin 2. This complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2014] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele are born small and weak, show tachypnea and multi-organ apoptosis, and die neonatally due to neuromuscular respiratory failure. The diaphragm and other skeletal muscles show disorganization and paucity of myofibers,myocyte degeneration and elevated apoptosis. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IDA|GO:0017148;negative regulation of translation;ISS|GO:0045071;negative regulation of viral genome replication;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0051607;defense response to virus;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IDA GO:0003677;DNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ILF3 https://www.uniprot.org/uniprot/Q12906 https://www.ncbi.nlm.nih.gov/omim/?term=603182 http://www.informatics.jax.org/searchtool/Search.do?query=ILF3&submit=Quick%0D%6242ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ILF3 11_21.322_43.322 Chr11:11392976-25199292 1.269 INSC ENSG00000188487 INSC, spindle orientation adaptor protein chr11:15133970-15268754 In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar 2008] Tobacco Use Disorder; Forced Expiratory Volume; Bone Density; Stroke; Hip; Prostatic Neoplasms Homozygous inactivation of this gene leads to abnormal cochlear hair cell morphology. GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA GO:0005737;cytoplasm;IEA|GO:0005938;cell cortex;IEA http://www.genecards.org/index.php?path=/Search/keyword/INSC https://www.ncbi.nlm.nih.gov/omim/?term=610668 http://www.informatics.jax.org/searchtool/Search.do?query=INSC&submit=Quick%0D%16041ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INSC 19_20.212_38.212 Chr19:6565245-15124834 0.429 INSR ENSG00000171105 insulin receptor chr19:7112266-7294045 This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] lung cancer; Acanthosis Nigricans|Insulin Resistance|Obesity; hypertension; obesity; insulin; polycystic ovary syndrome; polycystic ovary syndrome; bladder cancer; Migraine with Aura; Sexual Dysfunctions, Psychological; insulin; plasma HDL cholesterol (HDL-C) levels; body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial; Type 2 diabetes; diabetes, type 2; liver disease; glucose intolerance; insulin resistance; Hyperandrogenism|Insulin Resistance|Obesity|Polycystic Ovary Syndrome|Leanness; Body Height; diabetes, type 1; colorectal cancer; Insulin resistance; decreased levels of insulin-receptor messenger ribonucleic acid; Diabetes Mellitus, Type 2; polycystic ovarian syndrome; null; triglycerides; insulin; Polycystic Ovary Syndrome; diabetes; lung cancer ; Hypothyroidism; Insulin-resistant diabetes; migraine; breast cancer; diabetes, type 2; hypertension; insulin; obesity; diabetes, type 2; chronic obstructive pulmonary disease; Pre-Eclampsia; longevity; hyperlipidemia; atherosclerosis; diastolic blood pressure; diabetic pregnancy; breast cancer|prostate cancer; myocardial infarct; Type 2 Diabetes| edema | rosiglitazone; atherosclerosis, coronary; leprechaunism; Bulimia; polycystic ovarian disease; Kidney Failure, Chronic; gestational diabetes mellitus; typical migraine; BMI- Edema rosiglitazone or pioglitazone; epithelial ovarian cancer ; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Hypercholesterolemia|LDLC levels; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies. Insulin receptor recycling GO:0000187;activation of MAPK activity;IMP|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0003007;heart morphogenesis;IMP|GO:0005975;carbohydrate metabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;IMP|GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0008284;positive regulation of cell proliferation;IC|GO:0008286;insulin receptor signaling pathway;TAS|GO:0008544;epidermis development;IEA|GO:0008584;male gonad development;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0019087;transformation of host cell by virus;IMP|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030238;male sex determination;IEA|GO:0030325;adrenal gland development;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031017;exocrine pancreas development;IEA|GO:0032147;activation of protein kinase activity;IMP|GO:0032148;activation of protein kinase B activity;IDA|GO:0032869;cellular response to insulin stimulus;IDA|GO:0035556;intracellular signal transduction;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IEA|GO:0042593;glucose homeostasis;IMP|GO:0043410;positive regulation of MAPK cascade;IDA|GO:0045429;positive regulation of nitric oxide biosynthetic process;IMP|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045740;positive regulation of DNA replication;IMP|GO:0045821;positive regulation of glycolytic process;IMP|GO:0045840;positive regulation of mitotic nuclear division;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045995;regulation of embryonic development;IMP|GO:0046326;positive regulation of glucose import;IDA|GO:0046777;protein autophosphorylation;IMP|GO:0048639;positive regulation of developmental growth;IMP|GO:0051290;protein heterotetramerization;IDA|GO:0051446;positive regulation of meiotic cell cycle;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060267;positive regulation of respiratory burst;IDA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:2000194;regulation of female gonad development;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0005899;insulin receptor complex;IMP|GO:0005901;caveola;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IDA|GO:0004714;transmembrane receptor protein tyrosine kinase activity;IEA|GO:0004716;signal transducer, downstream of receptor, with protein tyrosine kinase activity;IDA|GO:0005009;insulin-activated receptor activity;IDA|GO:0005159;insulin-like growth factor receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005525;GTP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0031994;insulin-like growth factor I binding;IPI|GO:0031995;insulin-like growth factor II binding;IPI|GO:0043548;phosphatidylinositol 3-kinase binding;IPI|GO:0043559;insulin binding;IPI|GO:0043560;insulin receptor substrate binding;IPI|GO:0051425;PTB domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/INSR https://hpo.jax.org/app/browse/search?q=INSR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=147670 http://www.informatics.jax.org/searchtool/Search.do?query=INSR&submit=Quick%0D%12848ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=INSR 12_78.016_106.016 Chr12:64973018-92996828 1.299 IRAK3 ENSG00000090376 interleukin 1 receptor associated kinase 3 chr12:66582659-66648402 This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] pouchitis; Glioblastoma|Glioma; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Chronic renal failure|Kidney Failure, Chronic; Dermatitis, Atopic|; Meningeal Neoplasms|meningioma; antibody response to pertussis vaccination; Crohn's disease ulcerative colitis; asthma; Bone Mineral Density; Asthma|; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; breast cancer ; bronchodilator response; Hepatitis C|Remission, Spontaneous; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for disruptions in this gene display abnormal inflammatory responses to bacterial infections and loose bone mass with age. Interleukin-1 family signaling GO:0001960;negative regulation of cytokine-mediated signaling pathway;IC|GO:0002755;MyD88-dependent toll-like receptor signaling pathway;TAS|GO:0006468;protein phosphorylation;IDA|GO:0007165;signal transduction;IEA|GO:0009615;response to virus;IC|GO:0010933;positive regulation of macrophage tolerance induction;ISS|GO:0010936;negative regulation of macrophage cytokine production;ISS|GO:0016310;phosphorylation;IEA|GO:0019221;cytokine-mediated signaling pathway;IEA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IMP|GO:0032494;response to peptidoglycan;ISS|GO:0032496;response to lipopolysaccharide;ISS|GO:0032695;negative regulation of interleukin-12 production;IMP|GO:0032715;negative regulation of interleukin-6 production;IMP|GO:0032720;negative regulation of tumor necrosis factor production;IMP|GO:0034122;negative regulation of toll-like receptor signaling pathway;ISS|GO:0042177;negative regulation of protein catabolic process;IMP|GO:0043242;negative regulation of protein complex disassembly;IMP|GO:0043244;regulation of protein complex disassembly;IEA|GO:0043330;response to exogenous dsRNA;ISS|GO:0043407;negative regulation of MAP kinase activity;IMP|GO:0045824;negative regulation of innate immune response;ISS|GO:0046777;protein autophosphorylation;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IMP|GO:0070498;interleukin-1-mediated signaling pathway;IMP|GO:0070555;response to interleukin-1;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IPI|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/IRAK3 https://www.uniprot.org/uniprot/Q9Y616 https://www.ncbi.nlm.nih.gov/omim/?term=604459 http://www.informatics.jax.org/searchtool/Search.do?query=IRAK3&submit=Quick%0D%2096ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=IRAK3 20_50.701_78.701 Chr20:25016495-51804476 1.1 ITCH ENSG00000078747 itchy E3 ubiquitin protein ligase chr20:32951041-33099198 This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] Metabolism Mice homozygous for an ENU mutation exhibit increased total IgE levels in the peripheral blood and an enhanced IgE response to the cysteine protease allergen, papain. Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;IEA|GO:0001558;regulation of cell growth;NAS|GO:0002376;immune system process;IEA|GO:0002669;positive regulation of T cell anergy;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;NAS|GO:0006915;apoptotic process;IEA|GO:0006954;inflammatory response;NAS|GO:0007219;Notch signaling pathway;TAS|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;IDA|GO:0032088;negative regulation of NF-kappaB transcription factor activity;ISS|GO:0032480;negative regulation of type I interferon production;TAS|GO:0035519;protein K29-linked ubiquitination;IDA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0045087;innate immune response;IEA|GO:0045732;positive regulation of protein catabolic process;IEA|GO:0046329;negative regulation of JNK cascade;ISS|GO:0046642;negative regulation of alpha-beta T cell proliferation;IEA|GO:0046718;viral entry into host cell;TAS|GO:0050687;negative regulation of defense response to virus;IMP|GO:0051607;defense response to virus;IEA|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:0070534;protein K63-linked ubiquitination;IDA|GO:0070936;protein K48-linked ubiquitination;IDA|GO:0090085;regulation of protein deubiquitination;ISS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016874;ligase activity;IEA|GO:0019787;ubiquitin-like protein transferase activity;TAS|GO:0043021;ribonucleoprotein complex binding;IPI|GO:0045236;CXCR chemokine receptor binding;IPI|GO:0061630;ubiquitin protein ligase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/ITCH https://www.uniprot.org/uniprot/Q96J02 https://hpo.jax.org/app/browse/search?q=ITCH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606409 http://www.informatics.jax.org/searchtool/Search.do?query=ITCH&submit=Quick%0D%1674ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ITCH 20_50.701_78.701 Chr20:25016495-51804476 1.1 JPH2 ENSG00000149596 junctophilin 2 chr20:42740335-42816218 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; cardiomyopathy Homozygotes for a targeted null mutation exhibit a deficiency of junctional membrane complexes in cardiac myocytes and die by embryonic day 10.5. GO:0007204;positive regulation of cytosolic calcium ion concentration;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0055024;regulation of cardiac muscle tissue development;IEA|GO:0055074;calcium ion homeostasis;IDA|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;TAS|GO:0060316;positive regulation of ryanodine-sensitive calcium-release channel activity;IDA|GO:0060402;calcium ion transport into cytosol;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0014701;junctional sarcoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016529;sarcoplasmic reticulum;IEA|GO:0030018;Z disc;IEA|GO:0030314;junctional membrane complex;IEA|GO:0033017;sarcoplasmic reticulum membrane;IEA GO:0001786;phosphatidylserine binding;IDA|GO:0005515;protein binding;IPI|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IDA|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0010314;phosphatidylinositol-5-phosphate binding;IDA|GO:0015278;calcium-release channel activity;IDA|GO:0032266;phosphatidylinositol-3-phosphate binding;IDA|GO:0070273;phosphatidylinositol-4-phosphate binding;IDA|GO:0070300;phosphatidic acid binding;IDA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/JPH2 https://www.uniprot.org/uniprot/Q9BR39 https://hpo.jax.org/app/browse/search?q=JPH2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605267 http://www.informatics.jax.org/searchtool/Search.do?query=JPH2&submit=Quick%0D%9260ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JPH2 19_20.212_38.212 Chr19:6565245-15124834 0.429 JUNB ENSG00000171223 JunB proto-oncogene, AP-1 transcription factor subunit chr19:12902310-12904124 cognitive trait; Aging/ Telomere Length Homozygous null mutants die between embryonic day 8.5-10 due to impaired placental development. Embryos are severely growth retarded, but cell proliferation is normal, reflecting a failure to establish vascular interactions with the maternal circulation. Interleukin-4 and 13 signaling GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0001570;vasculogenesis;IEA|GO:0001649;osteoblast differentiation;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001829;trophectodermal cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0009314;response to radiation;IBA|GO:0009612;response to mechanical stimulus;IBA|GO:0009987;cellular process;IEA|GO:0010941;regulation of cell death;IBA|GO:0030316;osteoclast differentiation;IEA|GO:0032496;response to lipopolysaccharide;IBA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0033687;osteoblast proliferation;IEA|GO:0034097;response to cytokine;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0042493;response to drug;IBA|GO:0045597;positive regulation of cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS|GO:0046697;decidualization;IEA|GO:0051591;response to cAMP;IBA|GO:0051726;regulation of cell cycle;IEA|GO:0060136;embryonic process involved in female pregnancy;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0071277;cellular response to calcium ion;IEA GO:0000785;chromatin;TAS|GO:0000790;nuclear chromatin;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IBA|GO:0035976;transcription factor AP-1 complex;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003713;transcription coactivator activity;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IBA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/JUNB https://www.ncbi.nlm.nih.gov/omim/?term=165161 http://www.informatics.jax.org/searchtool/Search.do?query=JUNB&submit=Quick%0D%12883ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=JUNB 19_20.212_38.212 Chr19:6565245-15124834 0.429 KANK2 ENSG00000197256 KN motif and ankyrin repeat domains 2 chr19:11274943-11308467 This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016] Palmoplantar keratoderma and woolly hair GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0033147;negative regulation of intracellular estrogen receptor signaling pathway;IDA|GO:0043069;negative regulation of programmed cell death;IDA|GO:0070563;negative regulation of vitamin D receptor signaling pathway;IMP|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IDA GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KANK2 https://hpo.jax.org/app/browse/search?q=KANK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614610 http://www.informatics.jax.org/searchtool/Search.do?query=KANK2&submit=Quick%0D%16582ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KANK2 19_20.212_38.212 Chr19:6565245-15124834 0.429 KANK3 ENSG00000186994 KN motif and ankyrin repeat domains 3 chr19:8387468-8408146 http://www.genecards.org/index.php?path=/Search/keyword/KANK3 https://www.ncbi.nlm.nih.gov/omim/?term=614611 http://www.informatics.jax.org/searchtool/Search.do?query=KANK3&submit=Quick%0D%15754ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KANK3 20_50.701_78.701 Chr20:25016495-51804476 1.1 KCNB1 ENSG00000158445 potassium voltage-gated channel subfamily B member 1 chr20:47980414-48099184 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008] Stroke; Tobacco Use Disorder; Hypertrophy, Left Ventricular; Hypertension; Heart Failure; low voltage alpha EEG trait Mice homozygous for a null allele show reduced fasting glucose levels, hyperinsulinemia, improved glucose tolerance, altered glucose-induced electrical activity of pancreatic beta cells, and enhanced insulin secretion. Glucagon-like Peptide-1 (GLP1) regulates insulin secretion GO:0001508;action potential;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;ISS|GO:0007215;glutamate receptor signaling pathway;ISS|GO:0010701;positive regulation of norepinephrine secretion;ISS|GO:0031669;cellular response to nutrient levels;ISS|GO:0033605;positive regulation of catecholamine secretion;ISS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042593;glucose homeostasis;IEA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;ISS|GO:0046676;negative regulation of insulin secretion;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:0072661;protein targeting to plasma membrane;ISS|GO:0090314;positive regulation of protein targeting to membrane;IDA|GO:0098900;regulation of action potential;IEA|GO:1900454;positive regulation of long term synaptic depression;IEA|GO:2000671;regulation of motor neuron apoptotic process;ISS GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016328;lateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0032809;neuronal cell body membrane;IEA|GO:0042383;sarcolemma;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043204;perikaryon;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005251;delayed rectifier potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0032182;ubiquitin-like protein binding;IPI|GO:0044325;ion channel binding;IPI|GO:0046982;protein heterodimerization activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/KCNB1 https://hpo.jax.org/app/browse/search?q=KCNB1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600397 http://www.informatics.jax.org/searchtool/Search.do?query=KCNB1&submit=Quick%0D%10205ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNB1 11_21.322_43.322 Chr11:11392976-25199292 1.269 KCNC1 ENSG00000129159 potassium voltage-gated channel subfamily C member 1 chr11:17756359-17804602 This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014] Type 2 Diabetes| edema | rosiglitazone Voltage gated Potassium channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0007420;brain development;IEA|GO:0009636;response to toxic substance;IEA|GO:0009642;response to light intensity;IEA|GO:0010996;response to auditory stimulus;IEA|GO:0014075;response to amine;IEA|GO:0021549;cerebellum development;IEA|GO:0021759;globus pallidus development;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0034767;positive regulation of ion transmembrane transport;IEA|GO:0035690;cellular response to drug;IEA|GO:0035864;response to potassium ion;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051262;protein tetramerization;IDA|GO:0055085;transmembrane transport;IEA|GO:0071774;response to fibroblast growth factor;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1901379;regulation of potassium ion transmembrane transport;IEA|GO:1901381;positive regulation of potassium ion transmembrane transport;IEA|GO:1990089;response to nerve growth factor;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;TAS|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030425;dendrite;IEA|GO:0030673;axolemma;IEA|GO:0032589;neuron projection membrane;IEA|GO:0032590;dendrite membrane;IEA|GO:0032809;neuronal cell body membrane;ISS|GO:0043025;neuronal cell body;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;TAS|GO:0005251;delayed rectifier potassium channel activity;ISS|GO:0005267;potassium channel activity;IEA|GO:0019894;kinesin binding;IEA|GO:0044325;ion channel binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNC1 https://www.uniprot.org/uniprot/P48547 https://hpo.jax.org/app/browse/search?q=KCNC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176258 http://www.informatics.jax.org/searchtool/Search.do?query=KCNC1&submit=Quick%0D%6220ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNC1 12_78.016_106.016 Chr12:64973018-92996828 1.299 KCNC2 ENSG00000166006 potassium voltage-gated channel subfamily C member 2 chr12:75433857-75603648 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] Mice homozygous for a knock-out allele display impaired fast spiking in cortical interneurons, distorted cortical rhythmic activity, enhanced susceptibility to seizures, increased anxiety in the open field, and abnormal sleep patterns. Glucagon-like Peptide-1 (GLP1) regulates insulin secretion GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0009636;response to toxic substance;IEA|GO:0009642;response to light intensity;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0014075;response to amine;IEA|GO:0021759;globus pallidus development;IEA|GO:0032026;response to magnesium ion;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0038060;nitric oxide-cGMP-mediated signaling pathway;ISS|GO:0045471;response to ethanol;IEA|GO:0050796;regulation of insulin secretion;TAS|GO:0051260;protein homooligomerization;ISS|GO:0051291;protein heterooligomerization;ISS|GO:0055085;transmembrane transport;IEA|GO:0071242;cellular response to ammonium ion;IEA|GO:0071732;cellular response to nitric oxide;ISS|GO:0071805;potassium ion transmembrane transport;IBA|GO:0097237;cellular response to toxic substance;IEA|GO:1901381;positive regulation of potassium ion transmembrane transport;IEA|GO:1990089;response to nerve growth factor;IEA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;ISS|GO:0008076;voltage-gated potassium channel complex;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA|GO:0016323;basolateral plasma membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030673;axolemma;IEA|GO:0031982;vesicle;IEA|GO:0032809;neuronal cell body membrane;ISS|GO:0042734;presynaptic membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043195;terminal bouton;IEA|GO:0043204;perikaryon;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IBA|GO:0005251;delayed rectifier potassium channel activity;ISS|GO:0005267;potassium channel activity;IEA|GO:0044325;ion channel binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNC2 https://www.ncbi.nlm.nih.gov/omim/?term=176256 http://www.informatics.jax.org/searchtool/Search.do?query=KCNC2&submit=Quick%0D%11677ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNC2 20_50.701_78.701 Chr20:25016495-51804476 1.1 KCNG1 ENSG00000026559 potassium voltage-gated channel modifier subfamily G member 1 chr20:49620193-49639666 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008] Voltage gated Potassium channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902259;regulation of delayed rectifier potassium channel activity;IEA GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005251;delayed rectifier potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/KCNG1 https://www.uniprot.org/uniprot/Q9UIX4 https://www.ncbi.nlm.nih.gov/omim/?term=603788 http://www.informatics.jax.org/searchtool/Search.do?query=KCNG1&submit=Quick%0D%711ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNG1 11_21.322_43.322 Chr11:11392976-25199292 1.269 KCNJ11 ENSG00000187486 potassium voltage-gated channel subfamily J member 11 chr11:17407406-17410878 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; sulfonylurea failure, secondary; Diabetes Mellitus|Diabetes Mellitus, Type 2|; myocardial infarct; coronary heart disease; diabetes, type 2 insulin; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; glucose tolerance; diabetes, type 1; Alzheimer's disease ; diabetes, type 1 ; blood pressure, arterial hypertension; insulin; glucose; diabetes, type 2; insulin; Diabetes Mellitus; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; diabetes, type 2; Diabetes Mellitus, Type 2; Calcium; Type 2 diabetes|reduced prostate cancer risk; Type 2 diabetes; Coronary Disease; Kidney Failure, Chronic; atherosclerosis; Persistent Hyperinsulinemia Hypoglycemia of Infancy; impaired glucagon suppression; null; obesity|BMI; Calcinosis|Coronary Artery Disease|Diabetes mellitus; impaired exercise stress response; Diabetes Mellitus|; glucose homeostasis; diabetes; diabetes, gestational; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Type 2 Diabetes| edema | rosiglitazone; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Insulin Resistance; insulin release and insulin sensitivity; Diabetes Mellitus, Type 1; diabetes, type 2 hypertension; familial hyperinsulinism.; hypoglycemia awareness; Hypertension|Ventricular Remodeling; diabetes, type 2; diabetes, type 1; hyperglycemia; androgen polycystic ovary syndrome; obesity; diabetes, type 2 | diabetes, type 1; metabolic syndrome; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death. Defective ABCC8 can cause hypoglycemias and hyperglycemias GO:0002931;response to ischemia;IEA|GO:0006006;glucose metabolic process;IMP|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0010107;potassium ion import;IBA|GO:0032355;response to estradiol;IEA|GO:0033198;response to ATP;IDA|GO:0033574;response to testosterone;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0042493;response to drug;IMP|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050877;neurological system process;IMP|GO:0055085;transmembrane transport;TAS|GO:0071316;cellular response to nicotine;IEA|GO:0071333;cellular response to glucose stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0098655;cation transmembrane transport;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:1905965;positive regulation of protein targeting to plasma membrane;IEA|GO:2001259;positive regulation of cation channel activity;IEA GO:0001669;acrosomal vesicle;IEA|GO:0005635;nuclear envelope;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0008282;ATP-sensitive potassium channel complex;IDA|GO:0014704;intercalated disc;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030315;T-tubule;ISS|GO:0030673;axolemma;IEA|GO:0042383;sarcolemma;IEA|GO:0043025;neuronal cell body;IEA|GO:0043209;myelin sheath;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0070852;cell body fiber;IEA GO:0005242;inward rectifier potassium channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IDA|GO:0005524;ATP binding;TAS|GO:0008022;protein C-terminus binding;IEA|GO:0015272;ATP-activated inward rectifier potassium channel activity;IBA|GO:0030506;ankyrin binding;IPI|GO:0030955;potassium ion binding;TAS|GO:0031072;heat shock protein binding;IEA|GO:0044325;ion channel binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KCNJ11 https://hpo.jax.org/app/browse/search?q=KCNJ11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600937 http://www.informatics.jax.org/searchtool/Search.do?query=KCNJ11&submit=Quick%0D%15827ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNJ11 20_50.701_78.701 Chr20:25016495-51804476 1.1 KCNK15 ENSG00000124249 potassium two pore domain channel subfamily K member 15 chr20:43374421-43379675 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] Phase 4 - resting membrane potential GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0061337;cardiac conduction;TAS|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005267;potassium channel activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNK15 https://www.uniprot.org/uniprot/Q9H427 https://www.ncbi.nlm.nih.gov/omim/?term=607368 http://www.informatics.jax.org/searchtool/Search.do?query=KCNK15&submit=Quick%0D%5633ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK15 12_78.016_106.016 Chr12:64973018-92996828 1.299 KCNMB4 ENSG00000135643 potassium calcium-activated channel subfamily M regulatory beta subunit 4 chr12:70760056-70828072 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008] Blood Pressure; Epilepsy|Seizures|Syndrome Homozygous mutation of this gene results in no obvious phenotype. cGMP effects GO:0001508;action potential;IDA|GO:0005513;detection of calcium ion;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IDA|GO:0007268;chemical synaptic transmission;TAS|GO:0019228;neuronal action potential;IDA|GO:0019229;regulation of vasoconstriction;TAS|GO:0046928;regulation of neurotransmitter secretion;TAS|GO:0065009;regulation of molecular function;IEA|GO:0071805;potassium ion transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0015459;potassium channel regulator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KCNMB4 https://www.uniprot.org/uniprot/Q86W47 https://www.ncbi.nlm.nih.gov/omim/?term=605223 http://www.informatics.jax.org/searchtool/Search.do?query=KCNMB4&submit=Quick%0D%7197ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNMB4 20_50.701_78.701 Chr20:25016495-51804476 1.1 KCNS1 ENSG00000124134 potassium voltage-gated channel modifier subfamily S member 1 chr20:43720951-43729753 Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq, Jul 2008] Disease Models, Animal|Pain Mice homozygous for a conditional allele activated in DRG exhibit increased sensitivity to mechanical stimulation prior to and following neuropathic pain induction and cold nociception following neuropathic pain induction, and increased performance on a rotarod. Voltage gated Potassium channels GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0051260;protein homooligomerization;IEA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902259;regulation of delayed rectifier potassium channel activity;ISS GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;ISS GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005251;delayed rectifier potassium channel activity;IDA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KCNS1 https://www.uniprot.org/uniprot/Q96KK3 https://www.ncbi.nlm.nih.gov/omim/?term=602905 http://www.informatics.jax.org/searchtool/Search.do?query=KCNS1&submit=Quick%0D%5594ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNS1 19_20.212_38.212 Chr19:6565245-15124834 0.429 KEAP1 ENSG00000079999 kelch like ECH associated protein 1 chr19:10596796-10614417 This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008] lung cancer; Alzheimer's disease ; Pulmonary Disease, Chronic Obstructive; null; Parkinson's disease Homozygous null mice exhibit scaly skin, hyperkeratosis of the esophagus and stomach mucosa, and die around 3 weeks of age, putatively due to malnutrition resulting from the abnormal alimentary epithelium. Antigen processing: Ubiquitination & Proteasome degradation GO:0001701;in utero embryonic development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010499;proteasomal ubiquitin-independent protein catabolic process;IDA|GO:0016567;protein ubiquitination;IDA|GO:0016579;protein deubiquitination;TAS|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0042994;cytoplasmic sequestering of transcription factor;IBA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043687;post-translational protein modification;TAS|GO:0045604;regulation of epidermal cell differentiation;IEA|GO:0071353;cellular response to interleukin-4;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;TAS|GO:0005884;actin filament;IEA|GO:0030496;midbody;IDA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA|GO:0043234;protein complex;IEA GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0097718;disordered domain specific binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KEAP1 https://www.uniprot.org/uniprot/Q14145 https://hpo.jax.org/app/browse/search?q=KEAP1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606016 http://www.informatics.jax.org/searchtool/Search.do?query=KEAP1&submit=Quick%0D%1718ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KEAP1 12_78.016_106.016 Chr12:64973018-92996828 1.299 KERA ENSG00000139330 keratocan chr12:91444268-91451760 The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010] Hematocrit; kidney aging Mice homozygous for disruptions in this gene have a thinner than normal corneal stroma with thicker collagen fibers which were less regularly packed. Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) GO:0007601;visual perception;IEA|GO:0018146;keratan sulfate biosynthetic process;TAS|GO:0042340;keratan sulfate catabolic process;TAS|GO:0050896;response to stimulus;IEA|GO:0061303;cornea development in camera-type eye;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IBA|GO:0005796;Golgi lumen;TAS|GO:0043202;lysosomal lumen;TAS GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/KERA https://www.uniprot.org/uniprot/O60938 https://hpo.jax.org/app/browse/search?q=KERA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603288 http://www.informatics.jax.org/searchtool/Search.do?query=KERA&submit=Quick%0D%7873ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KERA 22_57.194_74.694 Chr22:45430165-51215481 0.519 KIAA0930 ENSG00000100364 KIAA0930 chr22:45586219-45636650 http://www.genecards.org/index.php?path=/Search/keyword/KIAA0930 https://www.uniprot.org/uniprot/Q6ICG6 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA0930&submit=Quick%0D%2497ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA0930 20_50.701_78.701 Chr20:25016495-51804476 1.1 KIAA1755 ENSG00000149633 KIAA1755 chr20:36838890-36889174 Tobacco Use Disorder; Basophils http://www.genecards.org/index.php?path=/Search/keyword/KIAA1755 https://www.uniprot.org/uniprot/Q5JYT7 http://www.informatics.jax.org/searchtool/Search.do?query=KIAA1755&submit=Quick%0D%9264ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIAA1755 20_50.701_78.701 Chr20:25016495-51804476 1.1 KIF3B ENSG00000101350 kinesin family member 3B chr20:30865467-30922814 The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [provided by RefSeq, Jul 2008] Mice homozygoous for a targeted null mutation are growth retarded and display neural tube defects, incomplete embryo turning, randomized left-right assymetry, pericardial edema, and die during the midgestational period. Kinesins GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007052;mitotic spindle organization;TAS|GO:0007100;mitotic centrosome separation;TAS|GO:0007368;determination of left/right symmetry;TAS|GO:0008089;anterograde axonal transport;TAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0032467;positive regulation of cytokinesis;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0072383;plus-end-directed vesicle transport along microtubule;TAS|GO:0090307;mitotic spindle assembly;IMP GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;NAS|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005873;plus-end kinesin complex;TAS|GO:0005874;microtubule;IEA|GO:0005876;spindle microtubule;NAS|GO:0005929;cilium;TAS|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IDA|GO:0016939;kinesin II complex;IDA|GO:0030424;axon;IEA|GO:0030496;midbody;IEA|GO:0030990;intraciliary transport particle;IEA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0097542;ciliary tip;TAS|GO:1904115;axon cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;TAS|GO:0017048;Rho GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KIF3B https://www.uniprot.org/uniprot/O15066 https://www.ncbi.nlm.nih.gov/omim/?term=603754 http://www.informatics.jax.org/searchtool/Search.do?query=KIF3B&submit=Quick%0D%2719ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF3B 12_78.016_106.016 Chr12:64973018-92996828 1.299 KITLG ENSG00000049130 KIT ligand chr12:88886570-88974628 This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Blond vs brown hair color; infertility, male; Type 2 Diabetes| edema | rosiglitazone; breast cancer ; testicular germ cell tumor; Testicular cancer; Vitiligo; Blood Pressure; bronchodilator response; IgE; Testicular Neoplasms; Hair Color; Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms; Depressive Disorder, Major Mutations in this gene affect migration of embryonic stem cells and cause similar phenotypes to mutations in its receptor gene (Kit). Mutants show mild to severe defects in pigmentation, hemopoiesis and reproduction. PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling GO:0000165;MAPK cascade;TAS|GO:0001541;ovarian follicle development;IEA|GO:0001755;neural crest cell migration;IEA|GO:0002687;positive regulation of leukocyte migration;IEA|GO:0002763;positive regulation of myeloid leukocyte differentiation;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008584;male gonad development;IEP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0033026;negative regulation of mast cell apoptotic process;IEA|GO:0035162;embryonic hemopoiesis;IDA|GO:0035234;ectopic germ cell programmed cell death;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043406;positive regulation of MAP kinase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045636;positive regulation of melanocyte differentiation;IEA|GO:0045740;positive regulation of DNA replication;IDA|GO:0046579;positive regulation of Ras protein signal transduction;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IEA|GO:0070668;positive regulation of mast cell proliferation;IEA|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:1902035;positive regulation of hematopoietic stem cell proliferation;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IDA|GO:0030175;filopodium;IDA|GO:0042995;cell projection;IEA GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005125;cytokine activity;IEA|GO:0005173;stem cell factor receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0008083;growth factor activity;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/KITLG https://www.uniprot.org/uniprot/P21583 https://hpo.jax.org/app/browse/search?q=KITLG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=184745 http://www.informatics.jax.org/searchtool/Search.do?query=KITLG&submit=Quick%0D%900ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KITLG 19_20.212_38.212 Chr19:6565245-15124834 0.429 KLF1 ENSG00000105610 Kruppel like factor 1 chr19:12995237-12997995 This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009] diabetes, type 2; Tobacco Use Disorder Nullizygous mice exhibit fatal anemia due to impaired hemopoiesis in fetal liver. Homozygotes for an ENU-induced allele die at E10-11 with severely impaired hemopoiesis while surviving heterozygotes show hemolytic anemia with reduced RBC counts, hematocrit and hemoglobin, and altered RBC morphology. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0030218;erythrocyte differentiation;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060135;maternal process involved in female pregnancy;IEA|GO:1901653;cellular response to peptide;IEA GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA GO:0000987;core promoter proximal region sequence-specific DNA binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/KLF1 https://www.uniprot.org/uniprot/Q13351 https://hpo.jax.org/app/browse/search?q=KLF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600599 http://www.informatics.jax.org/searchtool/Search.do?query=KLF1&submit=Quick%0D%3340ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLF1 22_57.194_74.694 Chr22:45430165-51215481 0.519 KLHDC7B ENSG00000130487 kelch domain containing 7B chr22:50986462-50989451 GO:0016567;protein ubiquitination;IEA GO:0031463;Cul3-RING ubiquitin ligase complex;IBA GO:0004842;ubiquitin-protein transferase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/KLHDC7B https://www.uniprot.org/uniprot/Q96G42 http://www.informatics.jax.org/searchtool/Search.do?query=KLHDC7B&submit=Quick%0D%6376ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHDC7B 19_20.212_38.212 Chr19:6565245-15124834 0.429 KRI1 ENSG00000129347 KRI1 homolog chr19:10663761-10676713 This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008] Celiac Disease|; Waist Circumference GO:0000447;endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA GO:0005730;nucleolus;IDA|GO:0030686;90S preribosome;IBA GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/KRI1 https://www.uniprot.org/uniprot/Q8N9T8 http://www.informatics.jax.org/searchtool/Search.do?query=KRI1&submit=Quick%0D%6241ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRI1 12_78.016_106.016 Chr12:64973018-92996828 1.299 KRR1 ENSG00000111615 KRR1, small subunit processome component homolog chr12:75890684-75905416 monocyte chemoattractant protein 1 (66-77); Type 2 Diabetes| edema | rosiglitazone Major pathway of rRNA processing in the nucleolus and cytosol GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0042254;ribosome biogenesis;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0032040;small-subunit processome;IBA|GO:0045171;intercellular bridge;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/KRR1 https://www.uniprot.org/uniprot/Q13601 https://www.ncbi.nlm.nih.gov/omim/?term=612817 http://www.informatics.jax.org/searchtool/Search.do?query=KRR1&submit=Quick%0D%4093ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=KRR1 20_50.701_78.701 Chr20:25016495-51804476 1.1 L3MBTL1 ENSG00000185513 L3MBTL1, histone methyl-lysine binding protein chr20:42136320-42179590 This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] Mice homozygous for a knock-out allele exhibit normal nervous system phenotype, hematopoietic system phenotype, immune system phenotype, cellular phenotype, and lifespan. Regulation of TP53 Activity through Methylation GO:0006325;chromatin organization;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007088;regulation of mitotic nuclear division;IMP|GO:0016569;covalent chromatin modification;IEA|GO:0030097;hemopoiesis;IEP|GO:0045652;regulation of megakaryocyte differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0051726;regulation of cell cycle;NAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0000785;chromatin;IDA|GO:0000793;condensed chromosome;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA GO:0003682;chromatin binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0031491;nucleosome binding;IDA|GO:0031493;nucleosomal histone binding;IDA|GO:0032093;SAM domain binding;IPI|GO:0035064;methylated histone binding;IDA|GO:0042393;histone binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/L3MBTL1 https://www.ncbi.nlm.nih.gov/omim/?term=608802 http://www.informatics.jax.org/searchtool/Search.do?query=L3MBTL1&submit=Quick%0D%15428ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=L3MBTL1 20_50.701_78.701 Chr20:25016495-51804476 1.1 LBP ENSG00000129988 lipopolysaccharide binding protein chr20:36974759-37005665 The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012] Sepsis; antibody response to pertussis vaccination; Endocarditis, Bacterial|Gram-Positive Bacterial Infections|Staphylococcal Infections; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Hepatopulmonary Syndrome|Liver Cirrhosis; Tobacco Use Disorder; C-reactive protein; Burns|Sepsis|Systemic infection; sepsis; Pregnancy Complications, Infectious|Vaginosis, Bacterial; Gram-Negative Bacterial Infections|Neutropenia; longevity; Meningeal Neoplasms|meningioma; myocardial infarct; Nonsurvivors of sepsis (male only) Homozygous mice have a generally normal phenotype but have an increased sensitivity to infection by gram negative bacteria. Interleukin-4 and 13 signaling GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002232;leukocyte chemotaxis involved in inflammatory response;IEA|GO:0002281;macrophage activation involved in immune response;IMP|GO:0002376;immune system process;IEA|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006953;acute-phase response;IEP|GO:0006968;cellular defense response;ISS|GO:0008228;opsonization;IC|GO:0015920;lipopolysaccharide transport;IDA|GO:0031663;lipopolysaccharide-mediated signaling pathway;IDA|GO:0032490;detection of molecule of bacterial origin;IDA|GO:0032496;response to lipopolysaccharide;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IDA|GO:0032722;positive regulation of chemokine production;IEA|GO:0032755;positive regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0032760;positive regulation of tumor necrosis factor production;IMP|GO:0033036;macromolecule localization;IDA|GO:0034142;toll-like receptor 4 signaling pathway;TAS|GO:0034145;positive regulation of toll-like receptor 4 signaling pathway;IDA|GO:0042535;positive regulation of tumor necrosis factor biosynthetic process;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043032;positive regulation of macrophage activation;IDA|GO:0044130;negative regulation of growth of symbiont in host;IEA|GO:0045087;innate immune response;IC|GO:0045919;positive regulation of cytolysis;IDA|GO:0050829;defense response to Gram-negative bacterium;IDA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0060265;positive regulation of respiratory burst involved in inflammatory response;IEA|GO:0071222;cellular response to lipopolysaccharide;IMP|GO:0071223;cellular response to lipoteichoic acid;IDA|GO:0090023;positive regulation of neutrophil chemotaxis;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0001530;lipopolysaccharide binding;ISS|GO:0005102;receptor binding;ISS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0070891;lipoteichoic acid binding;IDA|GO:0071723;lipopeptide binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LBP https://www.uniprot.org/uniprot/P18428 https://www.ncbi.nlm.nih.gov/omim/?term=151990 http://www.informatics.jax.org/searchtool/Search.do?query=LBP&submit=Quick%0D%6299ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LBP 11_21.322_43.322 Chr11:11392976-25199292 1.269 LDHA ENSG00000134333 lactate dehydrogenase A chr11:18415935-18429972 The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008] Narcolepsy; Acute-Phase Serum Amyloid A; Serum Amyloid A Protein; null; Acquired Immunodeficiency Syndrome|Disease Progression; panic disorder Mice homozygous for one chemically induced mutation exhibit severe hemolytic anemia with pronounced reticulocytosis and hyperbilirubinemia. Another mutation results in prenatal lethality in homozygotes. Pyruvate metabolism GO:0001666;response to hypoxia;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006089;lactate metabolic process;IEA|GO:0006090;pyruvate metabolic process;TAS|GO:0006096;glycolytic process;NAS|GO:0007584;response to nutrient;IEA|GO:0009749;response to glucose;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0019674;NAD metabolic process;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043627;response to estrogen;IEA|GO:0048569;post-embryonic animal organ development;IEA|GO:0051591;response to cAMP;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004457;lactate dehydrogenase activity;IEA|GO:0004459;L-lactate dehydrogenase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA|GO:0019900;kinase binding;IEA|GO:0042802;identical protein binding;IEA|GO:0045296;cadherin binding;IDA|GO:0051287;NAD binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LDHA https://www.uniprot.org/uniprot/P00338 https://hpo.jax.org/app/browse/search?q=LDHA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=150000 http://www.informatics.jax.org/searchtool/Search.do?query=LDHA&submit=Quick%0D%6963ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDHA 11_21.322_43.322 Chr11:11392976-25199292 1.269 LDHAL6A ENSG00000166800 lactate dehydrogenase A like 6A chr11:18477371-18501147 Pyruvate metabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004459;L-lactate dehydrogenase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA http://www.genecards.org/index.php?path=/Search/keyword/LDHAL6A http://www.informatics.jax.org/searchtool/Search.do?query=LDHAL6A&submit=Quick%0D%11866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDHAL6A 11_21.322_43.322 Chr11:11392976-25199292 1.269 LDHC ENSG00000166796 lactate dehydrogenase C chr11:18433854-18473605 Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase family. Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq, Jul 2008] Acute-Phase Serum Amyloid A Homozygous male mice are infertile. Spermatogenesis appears normal, but sperm motility decreases rapidly after their release from the epididymus. In vitro fertilization is blocked unless the zona pellucida is removed; even then, the rate of sperm penetration is lower than for wild-type sperm. Pyruvate metabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006090;pyruvate metabolic process;TAS|GO:0006754;ATP biosynthetic process;IEA|GO:0019244;lactate biosynthetic process from pyruvate;IEA|GO:0019516;lactate oxidation;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IEA|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004459;L-lactate dehydrogenase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA http://www.genecards.org/index.php?path=/Search/keyword/LDHC https://www.ncbi.nlm.nih.gov/omim/?term=150150 http://www.informatics.jax.org/searchtool/Search.do?query=LDHC&submit=Quick%0D%11864ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDHC 19_20.212_38.212 Chr19:6565245-15124834 0.429 LDLR ENSG00000130164 low density lipoprotein receptor chr19:11200038-11244492 The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] Hypercholesterolemia; Coronary Artery Disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Coronary Artery Disease|Hyperlipoproteinemia Type II; hypertension; plasma lipid and apolipoprotein levels; Hyperlipoproteinemia Type II; pharmacogenetic studies; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; null; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Dyslipidemias; lipid levels; patent ductus arteriosus; plasma concentrations of low density lipoproteins including LP(a); normal serum cholesterol levels; normal variation; Brain Ischemia|Hypertension|Osteoporosis|Stroke; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; chronic obstructive pulmonary disease; dementia; Smith-Lemli-Opitz syndrome; Coronary Disease; Alzheimer's disease ; Apoplexy|Myocardial ischemia|Stroke; Aortic Diseases|Calcinosis|Hyperlipoproteinemia Type II; myocardial infarction; Hepatitis C, Chronic|Remission, Spontaneous; hypertension; beta-glucuronidase; anaphylactoid purpura; Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Stroke; Hyperlipidemia, Familial Combined; Dyslipidemias|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; migraine without aura; cardiovascular disease; lipoprotein; Cardiovascular Diseases|Hyperlipoproteinemia Type II; diabetes mellitus; Cellulitis|Obesity; Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hypercholesterolemia|Hyperlipoproteinemia Type II; Coronary Artery Disease; differential plasma lipoprotein response to simvastatin; hypercholesterolemia; lung function; PAH metabolites, urinary; Atherosclerosis|Hypercholesterolemia; Venous Thromboembolism; heart disease, ischemic hypercholesterolemia; Cholesterol, total; LDL cholesterol; atherosclerosis; Apoplexy|Myocardial Infarction|Stroke; Aortic Diseases|Calcinosis|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Atherosclerosis|Cardiovascular Diseases; Achilles tendon xanthomas; Cardiovascular Diseases|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; hepatitis C; Hypertension|Stroke; Biliary Tract Neoplasms|Gallstones; obesity; diabetes, type 2; coronary heart disease; mild familial hypercholesterolemia; Cleft Lip|Cleft Palate; cholesterol, LDL; Chronic renal failure|Kidney Failure, Chronic; familial hypercholesterolemia.; metabolic syndrome; Metabolic Syndrome X; Hyperlipidemias; HDL Cholesterol; Familial Hypercholesterolemia; restenosis; Obesity; lung cancer; carotid artery intima-media thickness; Acute Coronary Syndrome; PAH metabolites, urinary; myocardial infarction (early onset); cerebral infarction; cholesterol; Kidney Failure, Chronic; Migraine Disorders|Migraine with Aura; familial hypercholesterolemia; lung cancer ; Cardiovascular Diseases; cirrhosis hepatitis C, chronic; lipid profiles; Chromosome Disorders|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II; mild familial hypercholesterolaemia; Fractures, Bone|Osteoporosis; Diseases in Twins|Obstetric Labor, Premature; Hypercholesterolemia|LDLC levels; fluvastatin induced cholesterol changes; Brain Ischemia|Stroke; gallstones; Recurrence|Venous Thromboembolism; atherosclerosis, coronary; Coronary Disease|; Arteriosclerosis|Carotid Artery Diseases|Hyperlipoproteinemia Type I|Vascular Diseases; cholelithiasis; atherosclerosis, coronary cholesterol; Amyotrophic Lateral Sclerosis|; plasma lipid traits; Obesity, Morbid; Alzheimer's disease; Apoplexy|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Peripheral Vascular Diseases|Stroke; stroke; sickle cell anemia; Myocardial Infarction|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; bone density; Fredrickson hyperlipoproteinemia; Tongue Diseases; metabolism disorders; cholesterol, HDL cholesterol, LDL; bladder cancer; Coronary Disease|Coronary heart disease; Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Translocation, Genetic; plasma cholesterol levels and drug response; lipoproteins; Type 2 diabetes; Alzheimer's Disease; hyperlipidemia; hypercholesterolemia of hypothyroidism; Apoplexy|Coronary Disease|Coronary heart disease|Fam hyperbetalipoproteinaemia|Hyperlipoproteinemia Type II|Stroke Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. Retinoid metabolism and transport GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0006897;endocytosis;TAS|GO:0006898;receptor-mediated endocytosis;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010867;positive regulation of triglyceride biosynthetic process;ISS|GO:0010899;regulation of phosphatidylcholine catabolic process;ISS|GO:0015914;phospholipid transport;ISS|GO:0016032;viral process;IEA|GO:0030299;intestinal cholesterol absorption;IMP|GO:0030301;cholesterol transport;IMP|GO:0034382;chylomicron remnant clearance;TAS|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0042157;lipoprotein metabolic process;IEA|GO:0042159;lipoprotein catabolic process;IEA|GO:0042632;cholesterol homeostasis;IMP|GO:0046718;viral entry into host cell;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0061024;membrane organization;TAS|GO:0070508;cholesterol import;IMP|GO:0071398;cellular response to fatty acid;IEA|GO:0071404;cellular response to low-density lipoprotein particle stimulus;IMP|GO:0090118;receptor-mediated endocytosis involved in cholesterol transport;IMP|GO:2000188;regulation of cholesterol homeostasis;IEA GO:0005615;extracellular space;IEA|GO:0005764;lysosome;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009897;external side of plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0030669;clathrin-coated endocytic vesicle membrane;TAS|GO:0034362;low-density lipoprotein particle;IEA|GO:0036020;endolysosome membrane;TAS|GO:0043235;receptor complex;IDA|GO:0045177;apical part of cell;ISS|GO:0097443;sorting endosome;IEA|GO:1990666;PCSK9-LDLR complex;IDA GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0002020;protease binding;IPI|GO:0005041;low-density lipoprotein receptor activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0030169;low-density lipoprotein particle binding;IMP|GO:0030229;very-low-density lipoprotein particle receptor activity;IDA|GO:0032050;clathrin heavy chain binding;TAS|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LDLR https://www.uniprot.org/uniprot/P01130 https://hpo.jax.org/app/browse/search?q=LDLR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606945 http://www.informatics.jax.org/searchtool/Search.do?query=LDLR&submit=Quick%0D%6321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LDLR 12_78.016_106.016 Chr12:64973018-92996828 1.299 LEMD3 ENSG00000174106 LEM domain containing 3 chr12:65563351-65642107 This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009] monocyte chemoattractant protein 1 (66-77) Homozygous mutation of this gene results in embryonic lethality at midgestation, defects in vascular remodeling and increased apoptosis in embryos, particularly in mesenchymal tissues. Depolymerisation of the Nuclear Lamina GO:0006998;nuclear envelope organization;IBA|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0030514;negative regulation of BMP signaling pathway;IDA|GO:0032926;negative regulation of activin receptor signaling pathway;IDA|GO:0070197;meiotic attachment of telomere to nuclear envelope;IBA GO:0005634;nucleus;IEA|GO:0005637;nuclear inner membrane;IDA|GO:0005639;integral component of nuclear inner membrane;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IDA|GO:0031965;nuclear membrane;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0031490;chromatin DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/LEMD3 https://hpo.jax.org/app/browse/search?q=LEMD3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607844 http://www.informatics.jax.org/searchtool/Search.do?query=LEMD3&submit=Quick%0D%13472ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LEMD3 12_78.016_106.016 Chr12:64973018-92996828 1.299 LGR5 ENSG00000139292 leucine rich repeat containing G protein-coupled receptor 5 chr12:71833550-71980090 The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015] Coronary Artery Disease; Posttransplantation diabetes mellitus (PTDM); Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; diabetes, type 2; type 2 diabetes; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Glomerular Filtration Rate; Blood Pressure; Type 2 diabetes; Exercise Test; obesity Mice homozygous for a knock-out allele display 100% neonatal lethality associated with ankyloglossia, gastrointestinal distension, cyanosis and respiratory failure. Regulation of FZD by ubiquitination GO:0001942;hair follicle development;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0009994;oocyte differentiation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0048839;inner ear development;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA|GO:2001013;epithelial cell proliferation involved in renal tubule morphogenesis;IEA GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032588;trans-Golgi network membrane;IDA GO:0004871;signal transducer activity;IEA|GO:0004888;transmembrane signaling receptor activity;IDA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0016500;protein-hormone receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/LGR5 https://www.uniprot.org/uniprot/O75473 https://www.ncbi.nlm.nih.gov/omim/?term=606667 http://www.informatics.jax.org/searchtool/Search.do?query=LGR5&submit=Quick%0D%7867ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LGR5 12_78.016_106.016 Chr12:64973018-92996828 1.299 LIN7A ENSG00000111052 lin-7 homolog A, crumbs cell polarity complex component chr12:81186299-81331704 The protein encoded by this gene is involved in generating and maintaining the asymmetric distribution of channels and receptors at the cell membrane. The encoded protein also is required for the localization of some specific channels and can be part of a protein complex that couples synaptic vesicle exocytosis to cell adhesion in the brain. [provided by RefSeq, May 2016] Hip; Hypertrophy, Left Ventricular; Waist Circumference; Tobacco Use Disorder Mice homozygous for disruptions in this gene display a normal phenotype. Neurexins and neuroligins GO:0006461;protein complex assembly;TAS|GO:0006810;transport;IEA|GO:0006887;exocytosis;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0015031;protein transport;IEA|GO:0045199;maintenance of epithelial cell apical/basal polarity;IBA|GO:0048489;synaptic vesicle transport;IEA|GO:0048839;inner ear development;IEA|GO:1903361;protein localization to basolateral plasma membrane;IBA GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IBA|GO:0005923;bicellular tight junction;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0098793;presynapse;IEA GO:0005515;protein binding;IPI|GO:0097016;L27 domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LIN7A https://www.uniprot.org/uniprot/O14910 https://www.ncbi.nlm.nih.gov/omim/?term=603380 http://www.informatics.jax.org/searchtool/Search.do?query=LIN7A&submit=Quick%0D%4024ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LIN7A 12_78.016_106.016 Chr12:64973018-92996828 1.299 LLPH ENSG00000139233 LLP homolog, long-term synaptic facilitation chr12:66516842-66524548 GO:0060999;positive regulation of dendritic spine development;ISS|GO:0097484;dendrite extension;ISS GO:0005634;nucleus;IEA|GO:0005694;chromosome;IDA|GO:0005730;nucleolus;IEA GO:0001099;basal RNA polymerase II transcription machinery binding;ISS|GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LLPH https://www.uniprot.org/uniprot/Q9BRT6 https://www.ncbi.nlm.nih.gov/omim/?term=616998 http://www.informatics.jax.org/searchtool/Search.do?query=LLPH&submit=Quick%0D%7859ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LLPH 22_57.194_74.694 Chr22:45430165-51215481 0.519 LMF2 ENSG00000100258 lipase maturation factor 2 chr22:50941376-50946135 Assembly of active LPL and LIPC lipase complexes GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LMF2 https://www.uniprot.org/uniprot/Q9BU23 http://www.informatics.jax.org/searchtool/Search.do?query=LMF2&submit=Quick%0D%2451ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LMF2 20_50.701_78.701 Chr20:25016495-51804476 1.1 LPIN3 ENSG00000132793 lipin 3 chr20:39969560-39989222 The protein encoded by this gene is a member of the lipin family of proteins, and all family members share strong homology in their C-terminal region. This protein is thought to form hetero-oligomers with other lipin family members, while one family member, lipin 1, can also form homo-oligomers. This protein contains conserved motifs for phosphatidate phosphatase 1 (PAP1) activity as well as a domain that interacts with a transcriptional co-activator. Lipin complexes act in the cytoplasm to catalyze the dephosphorylation of phosphatidic acid to produce diacylglycerol, which is the precursor of both triglycerides and phospholipids. Lipin complexes are also thought to regulate gene expression as transcriptional co-activators in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] Triglyceride biosynthesis GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006646;phosphatidylethanolamine biosynthetic process;TAS|GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0009062;fatty acid catabolic process;IBA|GO:0016311;dephosphorylation;IEA|GO:0019432;triglyceride biosynthetic process;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS GO:0003713;transcription coactivator activity;IBA|GO:0008195;phosphatidate phosphatase activity;EXP|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/LPIN3 https://www.uniprot.org/uniprot/Q9BQK8 https://www.ncbi.nlm.nih.gov/omim/?term=605520 http://www.informatics.jax.org/searchtool/Search.do?query=LPIN3&submit=Quick%0D%6743ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LPIN3 12_78.016_106.016 Chr12:64973018-92996828 1.299 LRRC10 ENSG00000198812 leucine rich repeat containing 10 chr12:70002351-70004942 height Mice homozygous for a null mutation are viable and fertile. They show prenatal systolic dysfunction and development of dilated cardiomyopathy in postnatal life. GO:0055013;cardiac muscle cell development;IEA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0005856;cytoskeleton;IEA|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA GO:0003779;actin binding;IEA|GO:0051393;alpha-actinin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRRC10 https://www.ncbi.nlm.nih.gov/omim/?term=610846 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC10&submit=Quick%0D%17017ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC10 1_27.421_30.421 Chr1:13285556-14610086 0.125 LRRC38 ENSG00000162494 leucine rich repeat containing 38 chr1:13801445-13840543 GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007409;axonogenesis;IBA GO:0005578;proteinaceous extracellular matrix;IBA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/LRRC38 https://www.ncbi.nlm.nih.gov/omim/?term=615212 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC38&submit=Quick%0D%10716ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC38 19_20.212_38.212 Chr19:6565245-15124834 0.429 LRRC8E ENSG00000171017 leucine rich repeat containing 8 family member E chr19:7953390-7966901 This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012] Miscellaneous transport and binding events GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007165;signal transduction;IBA|GO:0044070;regulation of anion transport;IEA|GO:0055085;transmembrane transport;TAS|GO:0098656;anion transmembrane transport;IMP GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IMP|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0034702;ion channel complex;IBA GO:0005225;volume-sensitive anion channel activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LRRC8E https://www.ncbi.nlm.nih.gov/omim/?term=612891 http://www.informatics.jax.org/searchtool/Search.do?query=LRRC8E&submit=Quick%0D%12831ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRC8E 12_78.016_106.016 Chr12:64973018-92996828 1.299 LRRIQ1 ENSG00000133640 leucine rich repeats and IQ motif containing 1 chr12:85430092-85657002 Tobacco Use Disorder http://www.genecards.org/index.php?path=/Search/keyword/LRRIQ1 https://www.uniprot.org/uniprot/Q96JM4 http://www.informatics.jax.org/searchtool/Search.do?query=LRRIQ1&submit=Quick%0D%6853ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRIQ1 12_78.016_106.016 Chr12:64973018-92996828 1.299 LUM ENSG00000139329 lumican chr12:91496406-91505608 This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008] null; breast cancer ; Myopia, Degenerative; Type 2 Diabetes| edema | rosiglitazone; myopia; Myopia Mice homozygous for targeted disruptions of this gene have abnormally large and aberrantly contoured collagen fibrils forming a disorganized matrix in the tendon, skin, cornea and sclera, with consequent reductions in skin tensile strength and corneal clarity. Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) GO:0007601;visual perception;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0018146;keratan sulfate biosynthetic process;TAS|GO:0030198;extracellular matrix organization;TAS|GO:0030199;collagen fibril organization;NAS|GO:0032914;positive regulation of transforming growth factor beta1 production;IEA|GO:0042340;keratan sulfate catabolic process;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0051216;cartilage development;IEA|GO:0070848;response to growth factor;IEA GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005583;fibrillar collagen trimer;IDA|GO:0005615;extracellular space;IDA|GO:0005796;Golgi lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0005201;extracellular matrix structural constituent;NAS|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/LUM https://www.uniprot.org/uniprot/P51884 https://www.ncbi.nlm.nih.gov/omim/?term=600616 http://www.informatics.jax.org/searchtool/Search.do?query=LUM&submit=Quick%0D%7872ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LUM 11_21.322_43.322 Chr11:11392976-25199292 1.269 LUZP2 ENSG00000187398 leucine zipper protein 2 chr11:24518516-25104150 This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] serum markers of iron status; Tobacco Use Disorder Homozygous null mice are viable, fertile, and show no overt abnormalities. GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/LUZP2 https://www.ncbi.nlm.nih.gov/omim/?term=608178 http://www.informatics.jax.org/searchtool/Search.do?query=LUZP2&submit=Quick%0D%15821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LUZP2 19_20.212_38.212 Chr19:6565245-15124834 0.429 LYL1 ENSG00000104903 LYL1, basic helix-loop-helix family member chr19:13209847-13213975 This gene represents a basic helix-loop-helix transcription factor. The encoded protein may play roles in blood vessel maturation and hematopoeisis. A translocation between this locus and the T cell receptor beta locus (GeneID 6957) on chromosome 7 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Sep 2010] Mice with mutation of this gene are vaible and fertile. Defects in production and differentiation of progenitor cells are observed, along with impaired ability of fetal liver or bone marrow cells in reconstituting B and T lineages after transplant. GO:0001955;blood vessel maturation;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0030183;B cell differentiation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0060216;definitive hemopoiesis;IEA GO:0005634;nucleus;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/LYL1 https://www.uniprot.org/uniprot/P12980 https://www.ncbi.nlm.nih.gov/omim/?term=151440 http://www.informatics.jax.org/searchtool/Search.do?query=LYL1&submit=Quick%0D%3199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LYL1 12_78.016_106.016 Chr12:64973018-92996828 1.299 LYZ ENSG00000090382 lysozyme chr12:69742121-69748014 This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014] Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; response to diuretic therapy; height; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth This locus controls heat stability of lysozyme P. The d allele determines low heat stability in C3H/He; the c allele determines high heat stability in CASA. Another variation, measured as electrophoretic mobility, is seen between BALB/c and M. spretus. Amyloid fiber formation GO:0001895;retina homeostasis;IEP|GO:0006954;inflammatory response;TAS|GO:0008152;metabolic process;IEA|GO:0019730;antimicrobial humoral response;TAS|GO:0019835;cytolysis;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0044267;cellular protein metabolic process;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS GO:0003796;lysozyme activity;TAS|GO:0003824;catalytic activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/LYZ https://www.uniprot.org/uniprot/P61626 https://hpo.jax.org/app/browse/search?q=LYZ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=153450 http://www.informatics.jax.org/searchtool/Search.do?query=LYZ&submit=Quick%0D%2097ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=LYZ 16_101.974_110.974 Chr16:79461830-82833302 0.225 MAF ENSG00000178573 MAF bZIP transcription factor chr16:79619740-79634611 The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] Body Weight; Body Weights and Measures; Thyrotropin; Myocardial Infarction; Type 2 diabetes; Obesity; high-density lipoprotein cholesterol ; Socioeconomic Factors; gamma-Glutamyltransferase; Albumins; obesity; Respiratory Function Tests; Waist-Hip Ratio; Goiter; Natriuretic Peptide, Brain Homozygotes show increased mortality at embryonic day 17.5-18.5, low postnatal survival, abnormal differentiation of lens fiber cells causing microphthalmia, defective lens development and impaired IL4 production by CD4+ T cells and natural killer cells. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001816;cytokine production;IEA|GO:0002088;lens development in camera-type eye;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0010628;positive regulation of gene expression;IEA|GO:0032330;regulation of chondrocyte differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048468;cell development;IEA|GO:0048839;inner ear development;IEA|GO:0070306;lens fiber cell differentiation;IEA GO:0000785;chromatin;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAF https://hpo.jax.org/app/browse/search?q=MAF&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=177075 http://www.informatics.jax.org/searchtool/Search.do?query=MAF&submit=Quick%0D%14201ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAF 20_50.701_78.701 Chr20:25016495-51804476 1.1 MAFB ENSG00000204103 MAF bZIP transcription factor B chr20:39314488-39317880 The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008] Body Mass Index; Pancreatic Neoplasms; Cleft Lip|Cleft Palate; LDL cholesterol; response to TNF antagonist treatment; Cholesterol; Arthritis, Rheumatoid; Cholesterol, LDL; Echocardiography; Dyslipidemias|Syndrome Mutant homozygotes exhibit segmentation defects in the caudal hindbrain, loss of facial motor neurons, impaired inner ear development, arrested maturation of kidney podocytes, reduced fertility, and, in some cases, lethality at birth from apnea. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007379;segment specification;IEA|GO:0007399;nervous system development;IBA|GO:0007423;sensory organ development;TAS|GO:0007585;respiratory gaseous exchange;IEA|GO:0021571;rhombomere 5 development;IEA|GO:0021572;rhombomere 6 development;IEA|GO:0021599;abducens nerve formation;IEA|GO:0033077;T cell differentiation in thymus;IEA|GO:0035284;brain segmentation;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0045647;negative regulation of erythrocyte differentiation;IDA|GO:0045671;negative regulation of osteoclast differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048538;thymus development;IEA GO:0005634;nucleus;TAS|GO:0005667;transcription factor complex;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IDA|GO:0043565;sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAFB https://hpo.jax.org/app/browse/search?q=MAFB&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608968 http://www.informatics.jax.org/searchtool/Search.do?query=MAFB&submit=Quick%0D%17199ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAFB 19_20.212_38.212 Chr19:6565245-15124834 0.429 MAN2B1 ENSG00000104774 mannosidase alpha class 2B member 1 chr19:12757325-12777556 This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] longevity Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation. Lysosomal oligosaccharide catabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006013;mannose metabolic process;IBA|GO:0006464;cellular protein modification process;IDA|GO:0006517;protein deglycosylation;TAS|GO:0008152;metabolic process;IEA|GO:0009313;oligosaccharide catabolic process;TAS|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005764;lysosome;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043202;lysosomal lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004553;hydrolase activity, hydrolyzing O-glycosyl compounds;IEA|GO:0004559;alpha-mannosidase activity;TAS|GO:0008270;zinc ion binding;IEA|GO:0015923;mannosidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030246;carbohydrate binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAN2B1 https://www.uniprot.org/uniprot/O00754 https://hpo.jax.org/app/browse/search?q=MAN2B1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=609458 http://www.informatics.jax.org/searchtool/Search.do?query=MAN2B1&submit=Quick%0D%3163ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAN2B1 20_50.701_78.701 Chr20:25016495-51804476 1.1 MANBAL ENSG00000101363 mannosidase beta like chr20:35918041-35945663 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MANBAL https://www.uniprot.org/uniprot/Q9NQG1 http://www.informatics.jax.org/searchtool/Search.do?query=MANBAL&submit=Quick%0D%2722ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MANBAL 20_50.701_78.701 Chr20:25016495-51804476 1.1 MAP1LC3A ENSG00000101460 microtubule associated protein 1 light chain 3 alpha chr20:33134658-33148149 MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple light chain subunits. The protein encoded by this gene is one of the light chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding different isoforms have been found for this gene. The expression of variant 1 is suppressed in many tumor cell lines, suggesting that may be involved in carcinogenesis. [provided by RefSeq, Feb 2012] Receptor Mediated Mitophagy GO:0000045;autophagosome assembly;IEA|GO:0000422;mitophagy;IGI|GO:0006914;autophagy;IEA|GO:0010040;response to iron(II) ion;IEA|GO:0010288;response to lead ion;IEA|GO:0016236;macroautophagy;TAS|GO:0031667;response to nutrient levels;IEA|GO:0034198;cellular response to amino acid starvation;IEA|GO:0043278;response to morphine;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071280;cellular response to copper ion;IEA|GO:0097352;autophagosome maturation;TAS GO:0000421;autophagosome membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005770;late endosome;IEA|GO:0005776;autophagosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0044754;autolysosome;IDA GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0008429;phosphatidylethanolamine binding;IDA|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MAP1LC3A https://www.uniprot.org/uniprot/Q9H492 https://www.ncbi.nlm.nih.gov/omim/?term=601242 http://www.informatics.jax.org/searchtool/Search.do?query=MAP1LC3A&submit=Quick%0D%2749ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP1LC3A 19_20.212_38.212 Chr19:6565245-15124834 0.429 MAP2K7 ENSG00000076984 mitogen-activated protein kinase kinase 7 chr19:7968728-7979363 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Mice homozygous for disruptions in this gene die during embryogenesis. Uptake and function of anthrax toxins GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0006970;response to osmotic stress;IDA|GO:0007165;signal transduction;TAS|GO:0007254;JNK cascade;TAS|GO:0007257;activation of JUN kinase activity;ISS|GO:0009408;response to heat;IDA|GO:0009411;response to UV;IDA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0034612;response to tumor necrosis factor;IDA|GO:0035897;proteolysis in other organism;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0051403;stress-activated MAPK cascade;IDA|GO:0051973;positive regulation of telomerase activity;IMP|GO:1904355;positive regulation of telomere capping;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0004708;MAP kinase kinase activity;IDA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0019903;protein phosphatase binding;ISS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAP2K7 https://www.uniprot.org/uniprot/O14733 https://www.ncbi.nlm.nih.gov/omim/?term=603014 http://www.informatics.jax.org/searchtool/Search.do?query=MAP2K7&submit=Quick%0D%1601ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAP2K7 22_57.194_74.694 Chr22:45430165-51215481 0.519 MAPK11 ENSG00000185386 mitogen-activated protein kinase 11 chr22:50702142-50709196 This gene encodes a member of a family of protein kinases that are involved in the integration of biochemical signals for a wide variety of cellular processes, including cell proliferation, differentiation, transcriptional regulation, and development. The encoded protein can be activated by proinflammatory cytokines and environmental stresses through phosphorylation by mitogen activated protein kinase kinases (MKKs). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Type 2 Diabetes| edema | rosiglitazone; HIV Mice homozygous for a knock-out allele exhibit a normal phenotype. Regulation of TP53 Activity through Phosphorylation GO:0000165;MAPK cascade;IEA|GO:0000187;activation of MAPK activity;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006950;response to stress;IDA|GO:0007165;signal transduction;TAS|GO:0007265;Ras protein signal transduction;TAS|GO:0010628;positive regulation of gene expression;IMP|GO:0016310;phosphorylation;IEA|GO:0035556;intracellular signal transduction;IDA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060043;regulation of cardiac muscle cell proliferation;IEA|GO:0060044;negative regulation of cardiac muscle cell proliferation;IEA|GO:0098586;cellular response to virus;IMP|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:2001184;positive regulation of interleukin-12 secretion;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004707;MAP kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPK11 https://www.ncbi.nlm.nih.gov/omim/?term=602898 http://www.informatics.jax.org/searchtool/Search.do?query=MAPK11&submit=Quick%0D%15409ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPK11 22_57.194_74.694 Chr22:45430165-51215481 0.519 MAPK12 ENSG00000188130 mitogen-activated protein kinase 12 chr22:50683879-50700254 Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Homozygous null mice are viable and fertile with no obvious abnormalities. Mice homozygous for a conditional allele activated in muscle cell exhibit decreased endurance exercise-induced mitochondrial biogenesis and angiogenesis. VEGFA-VEGFR2 Pathway GO:0000165;MAPK cascade;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IEA|GO:0006975;DNA damage induced protein phosphorylation;TAS|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;TAS|GO:0007165;signal transduction;TAS|GO:0007517;muscle organ development;TAS|GO:0010468;regulation of gene expression;IBA|GO:0010952;positive regulation of peptidase activity;NAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;TAS|GO:0035556;intracellular signal transduction;IBA|GO:0045445;myoblast differentiation;IDA|GO:0045786;negative regulation of cell cycle;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0051149;positive regulation of muscle cell differentiation;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004707;MAP kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPK12 https://www.ncbi.nlm.nih.gov/omim/?term=602399 http://www.informatics.jax.org/searchtool/Search.do?query=MAPK12&submit=Quick%0D%15971ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPK12 22_57.194_74.694 Chr22:45430165-51215481 0.519 MAPK8IP2 ENSG00000008735 mitogen-activated protein kinase 8 interacting protein 2 chr22:51039114-51052409 The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014] Mice homozygous for a null allele are smaller in size and exhibit male infertility. Mice homozygous for a different knock-out allele exhibit behavioral and cerebellar transmission deficits. GO:0001662;behavioral fear response;IEA|GO:0007172;signal complex assembly;TAS|GO:0007254;JNK cascade;IEA|GO:0007617;mating behavior;IEA|GO:0010469;regulation of receptor activity;IEA|GO:0032874;positive regulation of stress-activated MAPK cascade;IEA|GO:0035176;social behavior;IEA|GO:0046328;regulation of JNK cascade;IDA|GO:0046958;nonassociative learning;IEA|GO:0048813;dendrite morphogenesis;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:2000310;regulation of NMDA receptor activity;IEA|GO:2000311;regulation of AMPA receptor activity;IEA GO:0005737;cytoplasm;IEA|GO:0014069;postsynaptic density;IEA|GO:0043025;neuronal cell body;IEA|GO:0043234;protein complex;IEA GO:0001540;beta-amyloid binding;NAS|GO:0005078;MAP-kinase scaffold activity;NAS|GO:0005198;structural molecule activity;TAS|GO:0005515;protein binding;IPI|GO:0019894;kinesin binding;IEA|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAPK8IP2 https://www.uniprot.org/uniprot/Q13387 https://www.ncbi.nlm.nih.gov/omim/?term=607755 http://www.informatics.jax.org/searchtool/Search.do?query=MAPK8IP2&submit=Quick%0D%488ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPK8IP2 20_50.701_78.701 Chr20:25016495-51804476 1.1 MAPRE1 ENSG00000101367 microtubule associated protein RP/EB family member 1 chr20:31407699-31438211 The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [provided by RefSeq, Jul 2008] breast cancer AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0008283;cell proliferation;TAS|GO:0030335;positive regulation of cell migration;TAS|GO:0031115;negative regulation of microtubule polymerization;IDA|GO:0035372;protein localization to microtubule;IDA|GO:0051301;cell division;IEA|GO:0097711;ciliary basal body docking;TAS|GO:1903033;positive regulation of microtubule plus-end binding;IEA|GO:1904527;negative regulation of microtubule binding;TAS GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005881;cytoplasmic microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030981;cortical microtubule cytoskeleton;IDA|GO:0031253;cell projection membrane;IEA|GO:0035371;microtubule plus-end;IEA|GO:0042995;cell projection;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA|GO:0008022;protein C-terminus binding;TAS|GO:0042802;identical protein binding;IPI|GO:0045296;cadherin binding;IDA|GO:0051010;microtubule plus-end binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MAPRE1 https://www.uniprot.org/uniprot/Q15691 https://www.ncbi.nlm.nih.gov/omim/?term=603108 http://www.informatics.jax.org/searchtool/Search.do?query=MAPRE1&submit=Quick%0D%2724ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPRE1 19_20.212_38.212 Chr19:6565245-15124834 0.429 MARCH2 ENSG00000099785 membrane associated ring-CH-type finger 2 chr19:8478154-8503901 MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010] GO:0006897;endocytosis;IEA|GO:0016567;protein ubiquitination;IDA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0010008;endosome membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MARCH2 https://www.uniprot.org/uniprot/Q9P0N8 https://www.ncbi.nlm.nih.gov/omim/?term=613332 http://www.informatics.jax.org/searchtool/Search.do?query=MARCH2&submit=Quick%0D%2329ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MARCH2 19_20.212_38.212 Chr19:6565245-15124834 0.429 MAST1 ENSG00000105613 microtubule associated serine/threonine kinase 1 chr19:12944765-12985765 GO:0006468;protein phosphorylation;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0035556;intracellular signal transduction;IEA GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MAST1 https://www.uniprot.org/uniprot/Q9Y2H9 https://hpo.jax.org/app/browse/search?q=MAST1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612256 http://www.informatics.jax.org/searchtool/Search.do?query=MAST1&submit=Quick%0D%3342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MAST1 20_50.701_78.701 Chr20:25016495-51804476 1.1 MATN4 ENSG00000124159 matrilin 4 chr20:43922085-43937169 This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] ECM proteoglycans GO:0030198;extracellular matrix organization;TAS GO:0005576;extracellular region;TAS GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MATN4 https://www.uniprot.org/uniprot/O95460 https://www.ncbi.nlm.nih.gov/omim/?term=603897 http://www.informatics.jax.org/searchtool/Search.do?query=MATN4&submit=Quick%0D%5601ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MATN4 19_20.212_38.212 Chr19:6565245-15124834 0.429 MBD3L1 ENSG00000170948 methyl-CpG binding domain protein 3 like 1 chr19:8943074-8954016 This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell development. [provided by RefSeq, Jul 2008] Homozygous null mice are viable and fertile. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006346;methylation-dependent chromatin silencing;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0005515;protein binding;IPI|GO:0008327;methyl-CpG binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/MBD3L1 https://www.ncbi.nlm.nih.gov/omim/?term=607963 http://www.informatics.jax.org/searchtool/Search.do?query=MBD3L1&submit=Quick%0D%12815ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MBD3L1 19_20.212_38.212 Chr19:6565245-15124834 0.429 MBD3L2 ENSG00000230522 methyl-CpG binding domain protein 3 like 2 chr19:7049332-7051746 This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein has been found in germ cell tumors and some somatic tissues. [provided by RefSeq, Jul 2008] Homozygous null mice are viable and fertile. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006346;methylation-dependent chromatin silencing;IBA GO:0005634;nucleus;IBA GO:0008327;methyl-CpG binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/MBD3L2 https://www.ncbi.nlm.nih.gov/omim/?term=607964 http://www.informatics.jax.org/searchtool/Search.do?query=MBD3L2&submit=Quick%0D%18982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MBD3L2 19_20.212_38.212 Chr19:6565245-15124834 0.429 MBD3L3 ENSG00000182315 methyl-CpG binding domain protein 3 like 3 chr19:7056220-7058651 Homozygous null mice are viable and fertile. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006346;methylation-dependent chromatin silencing;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IBA GO:0008327;methyl-CpG binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/MBD3L3 http://www.informatics.jax.org/searchtool/Search.do?query=MBD3L3&submit=Quick%0D%14767ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MBD3L3 19_20.212_38.212 Chr19:6565245-15124834 0.429 MBD3L4 ENSG00000205718 chr19:7037759-7040190 This gene encodes a member of a family of proteins that are related to methyl-CpG-binding proteins but lack the methyl-CpG binding domain. There is no definitive support for transcription of this locus, and the transcript structure is inferred from other family members. [provided by RefSeq, Aug 2009] Homozygous null mice are viable and fertile. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006346;methylation-dependent chromatin silencing;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IBA GO:0008327;methyl-CpG binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/MBD3L4 http://www.informatics.jax.org/searchtool/Search.do?query=MBD3L4&submit=Quick%0D%17553ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MBD3L4 19_20.212_38.212 Chr19:6565245-15124834 0.429 MBD3L5 ENSG00000237247 methyl-CpG binding domain protein 3 like 5 chr19:7030589-7033022 Homozygous null mice are viable and fertile. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006346;methylation-dependent chromatin silencing;IBA GO:0005634;nucleus;IBA GO:0008327;methyl-CpG binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/MBD3L5 http://www.informatics.jax.org/searchtool/Search.do?query=MBD3L5&submit=Quick%0D%19485ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MBD3L5 16_129.974_134.474 Chr16:87933002-90108832 0.174 MC1R ENSG00000258839 melanocortin 1 receptor chr16:89978527-89987385 This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008] vitiligo; multiple sclerosis; Carcinoma, Basal Cell; tanning; radiation, UV, sensitivity to; pigmentation; null; breast cancer melanoma; freckles; prostate cancer; Hair Color; melanoma|Skin Neoplasms; red vs non-red hair color; Brill-Symmers disease|Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse|Lymphoma, Large-Cell, Diffuse|Neoplasms, Radiation-Induced|Skin Neoplasms; Melanosis; Adenocarcinoma, Follicular|Carcinoma, Papillary|Melanoma|Thyroid Neoplasms; human pigmentation; Suntan; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; melanoma|Nevus|Skin Neoplasms|Sunburn; Heart Failure; skin cancer, non-melanoma; Vitiligo; melanoma; freckles and solar lentigines; Black vs red hair color; Skin Neoplasms; melanoma, cutaneous; Albinism, Oculocutaneous; Carcinoma, Basal Cell|Skin Basal Cell Carcinoma|Skin Neoplasms; Ocular melanoma; Photosensitivity Disorders; hair color; skin cancer, nonmelanoma; melanoma skin cancer, non-melanoma; Parkinson's disease ; Carcinoma, Basal Cell|Melanoma|Skin Neoplasms; Melanoma, Amelanotic|Skin Neoplasms; ephelides; solar lentigines; cutaneous melanoma which is largely independent of skin type and hair color; oculocutaneous albinism type 2; Dengue Hemorrhagic Fever; obesity; tanning phenotype; Epstein-Barr Virus Infections|Multiple Sclerosis; Blond vs brown hair color; vulvar vestibulitis syndrome; skin sensitivity to sun; skin cancer; squamous cell carcinoma; carcinoma, basal cell; Melanoma|Skin Neoplasms; Melanoma|Neoplasms, Multiple Primary|Nevus|Skin Neoplasms; Severe Photoaging of Facial Skin; Melanoma; Erythema|Psoriasis|Skin Neoplasms; skin color; melanoma; skin cancer, non-melanoma; Lymphoma, Non-Hodgkin; Severe Acute Radiotherapy Side Effects Mutant alleles at this locus extend or restrict the amount of black pigment (eumelanin) in hair with the opposite effect on yellow pigment (phaeomelanin). Some variants affect pain sensitivity. G alpha (s) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007275;multicellular organism development;TAS|GO:0009650;UV protection;TAS|GO:0010739;positive regulation of protein kinase A signaling;ISS|GO:0019233;sensory perception of pain;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0032720;negative regulation of tumor necrosis factor production;IMP|GO:0035556;intracellular signal transduction;ISS|GO:0042438;melanin biosynthetic process;IEA|GO:0043473;pigmentation;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0051897;positive regulation of protein kinase B signaling;ISS|GO:0070914;UV-damage excision repair;IDA|GO:0090037;positive regulation of protein kinase C signaling;ISS GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004977;melanocortin receptor activity;IEA|GO:0004980;melanocyte-stimulating hormone receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008528;G-protein coupled peptide receptor activity;TAS|GO:0031625;ubiquitin protein ligase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MC1R https://hpo.jax.org/app/browse/search?q=MC1R&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=155555 http://www.informatics.jax.org/searchtool/Search.do?query=MC1R&submit=Quick%0D%20304ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MC1R 19_20.212_38.212 Chr19:6565245-15124834 0.429 MCOLN1 ENSG00000090674 mucolipin 1 chr19:7587512-7598895 This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009] mucolipidosis; null; Genetic Diseases, Inborn; mucolipidosis type IV Mice homozygous for a null allele exhibit premature death around 8 months of age preceeded by weight loss, weakness, lethargy, bladder and stomach distension, and retinal degradation. Transferrin endocytosis and recycling GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;NAS|GO:0006816;calcium ion transport;IEA|GO:0033572;transferrin transport;TAS|GO:0034755;iron ion transmembrane transport;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IEA|GO:0070588;calcium ion transmembrane transport;TAS|GO:0097352;autophagosome maturation;IEA GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0043235;receptor complex;IDA GO:0005261;cation channel activity;NAS|GO:0005262;calcium channel activity;TAS|GO:0005381;iron ion transmembrane transporter activity;TAS|GO:0072345;NAADP-sensitive calcium-release channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MCOLN1 https://www.uniprot.org/uniprot/Q9GZU1 https://hpo.jax.org/app/browse/search?q=MCOLN1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605248 http://www.informatics.jax.org/searchtool/Search.do?query=MCOLN1&submit=Quick%0D%2116ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MCOLN1 12_78.016_106.016 Chr12:64973018-92996828 1.299 MDM1 ENSG00000111554 Mdm1 nuclear protein chr12:68666223-68726161 This gene encodes a nuclear protein similar to the mouse double minute 1 protein. The mouse gene is located in double minute (DM) chromatin particles, is amplified in the mouse transformed 3T3 cell line, and the encoded protein is able to bind to p53. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] Attention Deficit Disorder with Hyperactivity; Diabetes Mellitus; Coronary Disease; smoking cessation; gamma-Glutamylcyclotransferase; Bipolar Disorder Mice homozygous for a nonsense point mutation exhibit retinal degeneration, abnormal eye electrophysiology. GO:0046600;negative regulation of centriole replication;IEA|GO:0060041;retina development in camera-type eye;IBA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA GO:0008017;microtubule binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MDM1 https://www.uniprot.org/uniprot/Q8TC05 https://www.ncbi.nlm.nih.gov/omim/?term=613813 http://www.informatics.jax.org/searchtool/Search.do?query=MDM1&submit=Quick%0D%4088ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MDM1 12_78.016_106.016 Chr12:64973018-92996828 1.299 MDM2 ENSG00000135679 MDM2 proto-oncogene chr12:69201956-69239214 This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013] Helicobacter Infections|Stomach Neoplasms; liver cancer; pregnancy loss; DNA Damage|Lung Neoplasms; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; stomach cancer; somatic P53 mutations in hepatocellular carcinoma; Lymphoma, Large B-Cell, Diffuse; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; bladder cancer; pancreatic adenocarcinoma; Carcinoma|Choroid Plexus Neoplasms|Choroid Plexus Papilloma|Papilloma, Choroid Plexus; Breast Neoplasms|Cell Transformation, Neoplastic|Ovarian Neoplasms; Skin Neoplasms; bronchodilator response; Carcinoma, Hepatocellular|Hepatitis B, Chronic|Liver Neoplasms; esophageal cancer ; Carcinoma, Hepatocellular|Hepatitis, Viral, Human|Liver Neoplasms; Brain Neoplasms|Glioma|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; psoriasis, psoriatic arthritis, and SAPHO syndrome; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Colorectal Neoplasms|Leukemia, Myelogenous, Chronic, BCR-ABL Positive; esophageal cancer; Neuroblastoma; Nasopharyngeal Neoplasms; Breast Neoplasms|; brain cancer; endometrial cancer; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Carcinoma, Squamous Cell|Cell Transformation, Viral|Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Papillomavirus Infections|Squamous cell carcinoma|Uterine Cervical Neoplasms; Brain Neoplasms|Glioblastoma; Chronic renal failure|Kidney Failure, Chronic; Leukemia, Myeloid, Acute; Chronic B-Cell Leukemias|Leukemia, Lymphocytic, Chronic, B-Cell; Carcinoma, Squamous Cell|Cocarcinogenesis|Mouth Neoplasms|Papillomavirus Infections|Squamous cell carcinoma; Adenocarcinoma|Pancreatic Neoplasms; Melanoma|Skin Neoplasms; Carcinoma, Squamous Cell|Lymphatic Metastasis|Mouth Neoplasms; melanoma|Skin Neoplasms; breast cancer; ovarian cancer; Chronic Lymphocytic Leukemia|Leukemia, Experimental|Leukemia, Lymphocytic, Chronic, B-Cell; restenosis; Li-Fraumeni Syndrome; Arthritis, Rheumatoid|; Retinal Neoplasms|Retinoblastoma; ovarian cancer; prostate cancer; Abortion, Spontaneous; Crohn Disease|Crohn's disease; fertility; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; lymphoma; breast cancer ; Neoplasm Metastasis|Neuroblastoma; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; colorectal cancer; esophageal adenocarcinoma; nasopharyngeal cancer; Leukemia, Myeloid|Neoplasms, Second Primary; lung cancer; Carcinoma, Squamous Cell|Fibrosis|Mouth Neoplasms; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell; Leukemia; Neoplasms; Anoxia|Neuroblastoma; Adenocarcinoma|Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; benzene haematotoxicity; lung cancer ; skin cancer, non-melanoma; Lymphoma, B-Cell|Lymphoma, Non-Hodgkin; Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; Neoplasm Recurrence, Local|Prostatic Neoplasms; null; Osteosarcoma; Leukemia, Lymphocytic, Chronic, B-Cell; Endometrial Neoplasms; Stomach Neoplasms; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Leukemia, Myeloid|Myeloid Leukemia; epithelial ovarian cancer ; Occupational Diseases; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; breast cancer; Leukoplakia|Mouth Neoplasms; adipose-tissue tumors; Critical Illness|Sepsis; Lupus Erythematosus, Systemic|Lupus Nephritis; Carcinoma|Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Wegener Granulomatosis; Breast Neoplasms|Colorectal Neoplasms|Lung Neoplasms|Mammary Neoplasms|Neoplasm of lung ; chronic obstructive pulmonary disease; Carcinoma|Prostatic Neoplasms; ovarian cancer peritoneal cancer; Brain Neoplasms|Oligodendroglioma Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice homozygous for a null allele exhibit prenatal lethality. Mice homozygous for one knock-in allele exhibit embryonic lethality while mice homozygous for a different knock-in allele exhibit alters cell cycle regulation. Regulation of RUNX3 expression and activity GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001568;blood vessel development;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0002027;regulation of heart rate;IEA|GO:0003170;heart valve development;IEA|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003281;ventricular septum development;IEA|GO:0003283;atrial septum development;IEA|GO:0006461;protein complex assembly;IDA|GO:0006977;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;TAS|GO:0007089;traversing start control point of mitotic cell cycle;IEA|GO:0007507;heart development;IEA|GO:0008284;positive regulation of cell proliferation;TAS|GO:0009636;response to toxic substance;IEA|GO:0010039;response to iron ion;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010955;negative regulation of protein processing;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0016032;viral process;IEA|GO:0016567;protein ubiquitination;IEA|GO:0016579;protein deubiquitination;TAS|GO:0016925;protein sumoylation;IEA|GO:0018205;peptidyl-lysine modification;IMP|GO:0031648;protein destabilization;IDA|GO:0032026;response to magnesium ion;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0034504;protein localization to nucleus;IDA|GO:0036369;transcription factor catabolic process;TAS|GO:0042176;regulation of protein catabolic process;IDA|GO:0042220;response to cocaine;IEA|GO:0042493;response to drug;IEA|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IMP|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043278;response to morphine;IEA|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0045184;establishment of protein localization;IDA|GO:0045472;response to ether;IEA|GO:0045787;positive regulation of cell cycle;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045931;positive regulation of mitotic cell cycle;IMP|GO:0046677;response to antibiotic;IEP|GO:0046827;positive regulation of protein export from nucleus;IEA|GO:0048545;response to steroid hormone;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IMP|GO:0051865;protein autoubiquitination;IMP|GO:0060411;cardiac septum morphogenesis;IEA|GO:0070301;cellular response to hydrogen peroxide;IEA|GO:0071157;negative regulation of cell cycle arrest;IDA|GO:0071236;cellular response to antibiotic;IEA|GO:0071301;cellular response to vitamin B1;IEA|GO:0071310;cellular response to organic substance;IEA|GO:0071312;cellular response to alkaloid;IEA|GO:0071363;cellular response to growth factor stimulus;IEA|GO:0071375;cellular response to peptide hormone stimulus;IEA|GO:0071391;cellular response to estrogen stimulus;IEA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEP|GO:0071480;cellular response to gamma radiation;IDA|GO:0071494;cellular response to UV-C;IEA|GO:0072717;cellular response to actinomycin D;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:1901797;negative regulation of signal transduction by p53 class mediator;IDA|GO:1902254;negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator;IMP|GO:1904404;response to formaldehyde;IEA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IEA|GO:1904754;positive regulation of vascular associated smooth muscle cell migration;IEA|GO:1990000;amyloid fibril formation;IMP|GO:1990785;response to water-immersion restraint stress;IEA GO:0005634;nucleus;IMP|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IMP|GO:0005737;cytoplasm;IMP|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016604;nuclear body;IDA|GO:0030666;endocytic vesicle membrane;TAS|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA GO:0002039;p53 binding;IPI|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0016874;ligase activity;IDA|GO:0019789;SUMO transferase activity;EXP|GO:0019899;enzyme binding;IPI|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0042975;peroxisome proliferator activated receptor binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0061630;ubiquitin protein ligase activity;TAS|GO:0061663;NEDD8 ligase activity;IMP|GO:0097110;scaffold protein binding;IEA|GO:0097718;disordered domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MDM2 https://www.uniprot.org/uniprot/Q00987 https://hpo.jax.org/app/browse/search?q=MDM2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164785 http://www.informatics.jax.org/searchtool/Search.do?query=MDM2&submit=Quick%0D%7201ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MDM2 12_78.016_106.016 Chr12:64973018-92996828 1.299 METTL25 ENSG00000127720 methyltransferase like 25 chr12:82752276-82873015 Sodium; Tobacco Use Disorder GO:0032259;methylation;IEA GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/METTL25 https://www.uniprot.org/uniprot/Q8N6Q8 http://www.informatics.jax.org/searchtool/Search.do?query=METTL25&submit=Quick%0D%6064ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=METTL25 12_78.016_106.016 Chr12:64973018-92996828 1.299 MGAT4C ENSG00000283530 MGAT4 family member C chr12:86372516-87232681 Heart Rate; Blood Cells; Diabetes Mellitus; Apolipoproteins B; Cholesterol; Tobacco Use Disorder; Body Height; Celiac Disease| N-Glycan antennae elongation GO:0005975;carbohydrate metabolic process;IEA|GO:0006486;protein glycosylation;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008454;alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016758;transferase activity, transferring hexosyl groups;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MGAT4C https://www.ncbi.nlm.nih.gov/omim/?term=607385 http://www.informatics.jax.org/searchtool/Search.do?query=MGAT4C&submit=Quick%0D%22750ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MGAT4C 11_21.322_43.322 Chr11:11392976-25199292 1.269 MICAL2 ENSG00000133816 microtubule associated monooxygenase, calponin and LIM domain containing 2 chr11:12115543-12285334 The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016] Erythrocytes; Myocardial Infarction; Stroke; Asthma; Tobacco Use Disorder; Waist Circumference GO:0001947;heart looping;ISS|GO:0007010;cytoskeleton organization;IDA|GO:0007507;heart development;ISS|GO:0010735;positive regulation of transcription via serum response element binding;IMP|GO:0019417;sulfur oxidation;IDA|GO:0030042;actin filament depolymerization;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA GO:0003779;actin binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;ISS|GO:0043914;NADPH:sulfur oxidoreductase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0071949;FAD binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICAL2 https://www.uniprot.org/uniprot/O94851 https://www.ncbi.nlm.nih.gov/omim/?term=608881 http://www.informatics.jax.org/searchtool/Search.do?query=MICAL2&submit=Quick%0D%6875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICAL2 11_21.322_43.322 Chr11:11392976-25199292 1.269 MICALCL ENSG00000133808 MICAL C-terminal like chr11:12297627-12380691 Tobacco Use Disorder; Electrocardiography; Alcoholism GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0008150;biological_process;ND|GO:0030154;cell differentiation;IEA GO:0005737;cytoplasm;IEA GO:0051019;mitogen-activated protein kinase binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MICALCL https://www.uniprot.org/uniprot/Q6ZW33 https://www.ncbi.nlm.nih.gov/omim/?term=612355 http://www.informatics.jax.org/searchtool/Search.do?query=MICALCL&submit=Quick%0D%6873ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MICALCL 22_57.194_74.694 Chr22:45430165-51215481 0.519 MIOX ENSG00000100253 myo-inositol oxygenase chr22:50925213-50929077 diabetes, type 1 Synthesis of IP2, IP, and Ins in the cytosol GO:0019310;inositol catabolic process;IDA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016234;inclusion body;ISS|GO:0070062;extracellular exosome;IDA GO:0004033;aldo-keto reductase (NADP) activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008199;ferric iron binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016651;oxidoreductase activity, acting on NAD(P)H;IEA|GO:0016701;oxidoreductase activity, acting on single donors with incorporation of molecular oxygen;ISS|GO:0046872;metal ion binding;IEA|GO:0050113;inositol oxygenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/MIOX https://www.uniprot.org/uniprot/Q9UGB7 https://www.ncbi.nlm.nih.gov/omim/?term=606774 http://www.informatics.jax.org/searchtool/Search.do?query=MIOX&submit=Quick%0D%2450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MIOX 22_57.194_74.694 Chr22:45430165-51215481 0.519 MLC1 ENSG00000100427 megalencephalic leukoencephalopathy with subcortical cysts 1 chr22:50497820-50524331 The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] bipolar disorder catatonia schizophrenia; schizophrenia; schizophrenia; bipolar disorder Mice homozygous for a null allele exhibit myelin vacuolization that progresses with age, and show alterations in glial cell and oligodendrocyte physiology. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0032388;positive regulation of intracellular transport;IDA|GO:0047484;regulation of response to osmotic stress;IMP|GO:0051259;protein oligomerization;IDA|GO:0071397;cellular response to cholesterol;ISS|GO:0072584;caveolin-mediated endocytosis;ISS GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;ISS|GO:0005768;endosome;IDA|GO:0005769;early endosome;ISS|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;IDA|GO:0005901;caveola;ISS|GO:0005911;cell-cell junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IDA|GO:0016324;apical plasma membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0045121;membrane raft;ISS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0055037;recycling endosome;ISS GO:0005215;transporter activity;NAS|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;ISS|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/MLC1 https://www.uniprot.org/uniprot/Q15049 https://hpo.jax.org/app/browse/search?q=MLC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605908 http://www.informatics.jax.org/searchtool/Search.do?query=MLC1&submit=Quick%0D%2521ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MLC1 20_50.701_78.701 Chr20:25016495-51804476 1.1 MMP24 ENSG00000125966 matrix metallopeptidase 24 chr20:33814457-33864801 This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. Unlike most MMPs, which are secreted, this protease is a member of the membrane-type MMP (MT-MMP) subfamily, contains a transmembrane domain and is expressed at the cell surface. Substrates of this protease include the proteins cadherin 2 and matrix metallopeptidase 2 (also known as 72 kDa type IV collagenase). [provided by RefSeq, Feb 2016] Attention Deficit Disorder with Hyperactivity; height; Hepatitis C, Chronic|Liver Cirrhosis; Type 2 Diabetes| edema | rosiglitazone; Height; ADHD | attention-deficit hyperactivity disorder Mice homozygous for disruptions in this gene fail to develop neuropathic pain after peripheral nerve injury. They also experience reduced stress and enhanced mechanical coordination. Activation of Matrix Metalloproteinases GO:0006508;proteolysis;TAS|GO:0007155;cell adhesion;IEA|GO:0010001;glial cell differentiation;IEA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0044331;cell-cell adhesion mediated by cadherin;IEA|GO:0050965;detection of temperature stimulus involved in sensory perception of pain;IEA|GO:0097150;neuronal stem cell population maintenance;IEA|GO:0098742;cell-cell adhesion via plasma-membrane adhesion molecules;IEA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031012;extracellular matrix;IEA|GO:0032588;trans-Golgi network membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004222;metalloendopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008047;enzyme activator activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0045296;cadherin binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMP24 https://www.uniprot.org/uniprot/Q9Y5R2 https://www.ncbi.nlm.nih.gov/omim/?term=604871 http://www.informatics.jax.org/searchtool/Search.do?query=MMP24&submit=Quick%0D%5888ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP24 20_50.701_78.701 Chr20:25016495-51804476 1.1 MMP24-AS1 ENSG00000126005 MMP24 antisense RNA 1 chr20:33804265-33865934 http://www.genecards.org/index.php?path=/Search/keyword/MMP24-AS1 https://www.uniprot.org/uniprot/A0A0U1RRL7 http://www.informatics.jax.org/searchtool/Search.do?query=MMP24-AS1&submit=Quick%0D%5901ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP24-AS1 20_50.701_78.701 Chr20:25016495-51804476 1.1 MMP9 ENSG00000100985 matrix metallopeptidase 9 chr20:44637547-44645200 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008] restenosis; Pulmonary Disease, Chronic Obstructive; endometrial cancer; schizophrenia; Leukemia, Lymphocytic, Chronic, B-Cell; atherosclerosis; Epilepsy, Temporal Lobe|Seizures, Febrile; matrix metalloproteinase-9 activity; kidney failure, chronic; Cleft Lip|Cleft Palate; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; ovarian cancer; Peripheral Vascular Diseases; matrix metalloproteinase; cervical cancer; breast cancer ; Chronic Obstructive Pulmonary Disease; Multiple Sclerosis; gastric ulcer; Carcinoma, Squamous Cell|Esophageal Neoplasms|; aortic stiffness hypertension; Alzheimer's disease dementia, vascular; Chronic renal failure|Kidney Failure, Chronic; Long QT Syndrome; melanoma; Bone Mineral Density; Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome; Inflammation|Premature Birth; acute coronary syndrome; nephropathy; Disease; asthma; angina; arterial stiffness; bone density; Airway Remodeling|Nasal Polyps|Recurrence|Sinusitis; Coronary Artery Disease; longevity myocardial infarct; Atherosclerosis; Coronary Artery Disease|Disease Susceptibility|Myocardial Infarction; Pre-Eclampsia; Bronchiectasis|; Lymphatic Metastasis|Stomach Neoplasms; Coronary Disease|Coronary heart disease; lung function; coronary artery disease; restenosis; chronic obstructive pulmonary disease/COPD; Tuberculosis, Pulmonary; patent ductus arteriosus; left ventricular remodeling; Acute Coronary Syndrome|Inflammation; glaucoma, primary open-angle; leukoaraiosis volume; coronary artery disease; COPD | Chronic obstructive Pulmonary Disease; Carcinoma, Squamous Cell|Inflammation|Mouth Neoplasms|Thrombosis; Hepatopulmonary Syndrome|Liver Cirrhosis; Hepatitis C, Chronic|Liver Cirrhosis; Carotid Artery Diseases|Carotid artery stenosis|Carotid Stenosis|Hypertension; stroke; intrauterine growth; aneurysm; multiple sclerosis; bladder cancer; left ventricular dysfunction; Type 2 Diabetes| edema | rosiglitazone; abdominal aortic aneurysm; Amyotrophic Lateral Sclerosis; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; Cardiovascular Diseases; Carcinoma, Non-Small-Cell Lung|Lung Neoplasms; Arteriosclerosis|Brain Ischemia|Carotid Artery Diseases|Cerebrovascular Disorders; myocardial infarct; atherosclerosis; Infection|Inflammation|Premature Birth; Behcet Syndrome; atherosclerosis, coronary; oral cancer; BMI; macular degeneration; Pelvic Organ Prolapse; Sjogren's syndrome; Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; throracic aortic aneurysm throracic aortic dissection; Bacterial Vaginosis|Fetal Membranes, Premature Rupture|Vaginosis, Bacterial; rheumatoid arthritis; adenomyosis endometriosis; Glomerulonephritis, IGA; Endometriosis|Uterine Diseases; Moyamoya Disease; cognitive ability; Gingivitis; kidney aging; Fibrosis|Tuberculosis, Pulmonary; Carotid Artery, Internal, Dissection|; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms; null; Crohn's disease ulcerative colitis; Osteoarthritis, Knee; Lupus Erythematosus, Systemic; Carcinoma, Hepatocellular|Hepatitis C, Chronic|LCC - Liver cell carcinoma|Liver neoplasms; H. pylori infection stomach cancer; Carcinoma, Hepatocellular|Hepatitis C|Liver Neoplasms; dementia; plasma HDL cholesterol (HDL-C) levels; Brain Ischemia|Intracranial Hemorrhages|Myocardial Infarction|Stroke; atherosclerotic lesions; preterm delivery; Coronary Disease|; Spinal Diseases; Aortic Aneurysm, Abdominal; Alzheimer's Disease; brain aneurysm; prostate cancer; coronary disease; uterine leiomyoma; brain cancer; aortic dissection; myocardial infarct; heart disease, ischemic; atherosclerosis, coronary; Duodenal Ulcer|Helicobacter Infections; nasopharyngeal cancer; chronic obstructive pulmonary disease/COPD; emphysema; periodontitis; carotid atherosclerosis; cervical artery dissection, spontaneous; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; hypertension; lung cancer; Alzheimer's disease ; Apoplexy|Stroke; Coronary Disease|Coronary heart disease|Diabetic Angiopathies|Myocardial Infarction; Diabetic Retinopathy|; Guillain-Barre Syndrome; Colorectal Neoplasms; spontaneous cervical artery dissection.; coronary artery lesions; diabetes, type 2; Bipolar Disorder | mood disorders; Intervertebral Disk Displacement; preeclampsia; Kidney Failure, Chronic; Myocardial Infarction; Hepatitis B; osseointegrated implant failure; Fetal Membrane Rupture; Scleroderma, Systemic|Systemic Scleroderma; esophageal adenocarcinoma; emphysema; brain hemorrhage; Atrial Fibrillation|Heart Diseases|Hypertension|Hypertrophy, Left Ventricular; renal graft function; Carcinoma, Hepatocellular|Hepatitis B|Liver carcinoma|Liver neoplasms; lung cancer ; ocular Chlamydia trachomatis infection; bone mineral density; atherosclerosis, carotid; Lymphoma, Non-Hodgkin; Alcoholism; Neoplasms; Constriction, Pathologic|Graft Occlusion, Vascular; Periodontitis; Crohn Disease|Recurrence; breast cancer; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; subarachnoid hemorrhage; Helicobacter Infections|Metaplasia; acute coronary syndrome atherosclerosis, coronary; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms|Recurrence; Duodenal Ulcer|Gastritis|Helicobacter Infections; Glaucoma, Angle-Closure; myelopathy/tropical spastic paraparesis; Giant Cell Arteritis; Endometriosis; Acquired Immunodeficiency Syndrome|Cardiovascular Diseases; Exfoliation Syndrome|Glaucoma, Open-Angle; colorectal cancer; stomach cancer Null mutants have short long bones with compensatory growth via delayed ossification and apoptosis of hypertrophic chondroctyes. Mutants are protected against ischemic brain injury, damage caused by myocardial infarction, and allergic airway inflammation. Neutrophil degranulation GO:0001501;skeletal system development;IEA|GO:0001503;ossification;IEA|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0006508;proteolysis;IDA|GO:0007566;embryo implantation;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030198;extracellular matrix organization;IEA|GO:0030225;macrophage differentiation;TAS|GO:0030335;positive regulation of cell migration;TAS|GO:0030574;collagen catabolic process;TAS|GO:0034614;cellular response to reactive oxygen species;IDA|GO:0035987;endodermal cell differentiation;IEP|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0043388;positive regulation of DNA binding;IDA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0050900;leukocyte migration;IEA|GO:0051549;positive regulation of keratinocyte migration;IMP|GO:0071276;cellular response to cadmium ion;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IMP|GO:1900122;positive regulation of receptor binding;IDA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IMP|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IMP|GO:2001258;negative regulation of cation channel activity;IDA|GO:2001268;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IEA|GO:0070062;extracellular exosome;IDA|GO:1904724;tertiary granule lumen;TAS|GO:1904813;ficolin-1-rich granule lumen;TAS GO:0004175;endopeptidase activity;IDA|GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;EXP|GO:0005515;protein binding;IPI|GO:0005518;collagen binding;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IDA|GO:0008270;zinc ion binding;TAS|GO:0016787;hydrolase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MMP9 https://www.uniprot.org/uniprot/P14780 https://hpo.jax.org/app/browse/search?q=MMP9&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=120361 http://www.informatics.jax.org/searchtool/Search.do?query=MMP9&submit=Quick%0D%2631ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP9 20_50.701_78.701 Chr20:25016495-51804476 1.1 MOCS3 ENSG00000124217 molybdenum cofactor synthesis 3 chr20:49575363-49577820 Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012] Molybdenum cofactor biosynthesis GO:0002098;tRNA wobble uridine modification;IDA|GO:0002143;tRNA wobble position uridine thiolation;IEA|GO:0006777;Mo-molybdopterin cofactor biosynthetic process;IDA|GO:0008033;tRNA processing;IEA|GO:0008152;metabolic process;IEA|GO:0018192;enzyme active site formation via cysteine modification to L-cysteine persulfide;IDA|GO:0032324;molybdopterin cofactor biosynthetic process;TAS|GO:0034227;tRNA thio-modification;IDA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004792;thiosulfate sulfurtransferase activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008641;small protein activating enzyme activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IDA|GO:0016783;sulfurtransferase activity;TAS|GO:0042292;URM1 activating enzyme activity;IDA|GO:0046872;metal ion binding;IEA|GO:0061604;molybdopterin-synthase sulfurtransferase activity;IEA|GO:0061605;molybdopterin-synthase adenylyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MOCS3 https://www.uniprot.org/uniprot/O95396 https://www.ncbi.nlm.nih.gov/omim/?term=609277 http://www.informatics.jax.org/searchtool/Search.do?query=MOCS3&submit=Quick%0D%5623ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MOCS3 22_57.194_74.694 Chr22:45430165-51215481 0.519 MOV10L1 ENSG00000073146 Mov10 RISC complex RNA helicase like 1 chr22:50528308-50600119 This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] Tobacco Use Disorder Mice homozygous for a targeted allele lacking the helicase domain exhibit male infertility due to meiotic arrest, apoptosis, and derepression of retrotransposons in male germ cells. PIWI-interacting RNA (piRNA) biogenesis GO:0007141;male meiosis I;ISS|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEP|GO:0007283;spermatogenesis;IEP|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS|GO:0007141;male meiosis I;ISS|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IEP|GO:0007283;spermatogenesis;IEP|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS GO:0005622;intracellular;IC|GO:0005737;cytoplasm;IEA|GO:0043186;P granule;ISS|GO:0071546;pi-body;ISS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;TAS|GO:0003723;RNA binding;TAS|GO:0004004;ATP-dependent RNA helicase activity;ISS|GO:0004386;helicase activity;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MOV10L1 https://www.uniprot.org/uniprot/Q9BXT6 https://www.ncbi.nlm.nih.gov/omim/?term=605794 http://www.informatics.jax.org/searchtool/Search.do?query=MOV10L1&submit=Quick%0D%26ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MOV10L1 16_101.974_110.974 Chr16:79461830-82833302 0.225 MPHOSPH6 ENSG00000135698 M-phase phosphoprotein 6 chr16:82181403-82203831 Tobacco Use Disorder; Lipoproteins, VLDL; Hypertension; Creatinine; Adiponectin; Magnesium; Body Mass Index; HIV Infections|[X]Human immunodeficiency virus disease; Psychomotor Performance; Benzodiazepines; Alzheimer Disease; fibrin fragment D; Bone Density Major pathway of rRNA processing in the nucleolus and cytosol GO:0000460;maturation of 5.8S rRNA;IMP|GO:0006364;rRNA processing;TAS GO:0000176;nuclear exosome (RNase complex);TAS|GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MPHOSPH6 https://www.uniprot.org/uniprot/Q99547 https://www.ncbi.nlm.nih.gov/omim/?term=605500 http://www.informatics.jax.org/searchtool/Search.do?query=MPHOSPH6&submit=Quick%0D%7204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MPHOSPH6 11_21.322_43.322 Chr11:11392976-25199292 1.269 MRGPRX1 ENSG00000170255 MAS related GPR family member X1 chr11:18955360-18961054 Luteinizing Hormone Mice homozygous for a knock-out allele exhibit impaired mast cell activation and inflammatory response after 48/80 treatment. GO:0006953;acute-phase response;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MRGPRX1 https://www.ncbi.nlm.nih.gov/omim/?term=607227 http://www.informatics.jax.org/searchtool/Search.do?query=MRGPRX1&submit=Quick%0D%12657ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRGPRX1 11_21.322_43.322 Chr11:11392976-25199292 1.269 MRGPRX2 ENSG00000183695 MAS related GPR family member X2 chr11:19076002-19082228 Hemoglobins GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0019233;sensory perception of pain;NAS|GO:0030431;sleep;NAS|GO:0032467;positive regulation of cytokinesis;IMP|GO:0043303;mast cell degranulation;IDA|GO:0045576;mast cell activation;IDA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IC|GO:0042629;mast cell granule;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IDA|GO:0042923;neuropeptide binding;IPI|GO:1990595;mast cell secretagogue receptor activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/MRGPRX2 https://www.ncbi.nlm.nih.gov/omim/?term=607228 http://www.informatics.jax.org/searchtool/Search.do?query=MRGPRX2&submit=Quick%0D%15048ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRGPRX2 11_21.322_43.322 Chr11:11392976-25199292 1.269 MRGPRX3 ENSG00000179826 MAS related GPR family member X3 chr11:18142502-18160027 This gene encodes a member of the mas-related/sensory neuron specific subfamily of G protein coupled receptors. The encoded protein may be involved in sensory neuron regulation and in the modulation of pain. [provided by RefSeq, Oct 2009] GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MRGPRX3 https://www.ncbi.nlm.nih.gov/omim/?term=607229 http://www.informatics.jax.org/searchtool/Search.do?query=MRGPRX3&submit=Quick%0D%14387ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRGPRX3 11_21.322_43.322 Chr11:11392976-25199292 1.269 MRGPRX4 ENSG00000179817 MAS related GPR family member X4 chr11:18194384-18195827 Tobacco Use Disorder GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MRGPRX4 https://www.ncbi.nlm.nih.gov/omim/?term=607230 http://www.informatics.jax.org/searchtool/Search.do?query=MRGPRX4&submit=Quick%0D%14385ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRGPRX4 19_20.212_38.212 Chr19:6565245-15124834 0.429 MRI1 ENSG00000037757 methylthioribose-1-phosphate isomerase 1 chr19:13875346-13885096 This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016] Methionine salvage pathway GO:0008652;cellular amino acid biosynthetic process;IEA|GO:0009086;methionine biosynthetic process;IEA|GO:0019509;L-methionine salvage from methylthioadenosine;TAS|GO:0044237;cellular metabolic process;IEA|GO:0044249;cellular biosynthetic process;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0042995;cell projection;IEA GO:0016853;isomerase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046523;S-methyl-5-thioribose-1-phosphate isomerase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/MRI1 https://www.uniprot.org/uniprot/Q9BV20 https://www.ncbi.nlm.nih.gov/omim/?term=615105 http://www.informatics.jax.org/searchtool/Search.do?query=MRI1&submit=Quick%0D%793ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRI1 20_50.701_78.701 Chr20:25016495-51804476 1.1 MROH8 ENSG00000101353 maestro heat like repeat family member 8 chr20:35729629-35807991 The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer's disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] Hippocampus; Tobacco Use Disorder; hippocampal atrophy http://www.genecards.org/index.php?path=/Search/keyword/MROH8 https://www.uniprot.org/uniprot/Q9H579 http://www.informatics.jax.org/searchtool/Search.do?query=MROH8&submit=Quick%0D%2720ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MROH8 19_20.212_38.212 Chr19:6565245-15124834 0.429 MRPL4 ENSG00000105364 mitochondrial ribosomal protein L4 chr19:10362577-10370721 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; benzene haematotoxicity Mitochondrial translation termination GO:0006412;translation;IEA|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0022626;cytosolic ribosome;IBA|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MRPL4 https://www.uniprot.org/uniprot/Q9BYD3 https://www.ncbi.nlm.nih.gov/omim/?term=611823 http://www.informatics.jax.org/searchtool/Search.do?query=MRPL4&submit=Quick%0D%3282ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL4 12_78.016_106.016 Chr12:64973018-92996828 1.299 MSRB3 ENSG00000174099 methionine sulfoxide reductase B3 chr12:65672423-65882024 The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010] primary tooth development ; Diabetic Nephropathies; Hippocampus; Hip; Apolipoproteins C; Exercise Test; Odontogenesis; Peroxidase; Electrocardiography; Bipolar Disorder; Calcium-Binding Proteins Mice homozygous for a knock-out allele exhibit deafness with cochlear inner and outer hair cell degeneration and increased apoptosis in the organ of Corti. Protein repair GO:0006979;response to oxidative stress;IEA|GO:0030091;protein repair;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;TAS GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016671;oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor;IEA|GO:0033743;peptide-methionine (R)-S-oxide reductase activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MSRB3 https://hpo.jax.org/app/browse/search?q=MSRB3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613719 http://www.informatics.jax.org/searchtool/Search.do?query=MSRB3&submit=Quick%0D%13471ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MSRB3 19_20.212_38.212 Chr19:6565245-15124834 0.429 MUC16 ENSG00000181143 mucin 16, cell surface associated chr19:8959520-9092018 Heart Failure; epithelial ovarian cancer Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females. Termination of O-glycan biosynthesis GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0007155;cell adhesion;NAS|GO:0016266;O-glycan processing;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019898;extrinsic component of membrane;IDA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MUC16 https://www.ncbi.nlm.nih.gov/omim/?term=606154 http://www.informatics.jax.org/searchtool/Search.do?query=MUC16&submit=Quick%0D%14587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MUC16 16_129.974_134.474 Chr16:87933002-90108832 0.174 MVD ENSG00000167508 mevalonate diphosphate decarboxylase chr16:88718343-88729569 The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels Synthesis of Dolichyl-phosphate GO:0006489;dolichyl diphosphate biosynthetic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006694;steroid biosynthetic process;IEA|GO:0006695;cholesterol biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008299;isoprenoid biosynthetic process;IDA|GO:0016126;sterol biosynthetic process;IEA|GO:0019287;isopentenyl diphosphate biosynthetic process, mevalonate pathway;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004163;diphosphomevalonate decarboxylase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016829;lyase activity;IEA|GO:0016831;carboxy-lyase activity;IEA|GO:0030544;Hsp70 protein binding;IPI|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/MVD https://hpo.jax.org/app/browse/search?q=MVD&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603236 http://www.informatics.jax.org/searchtool/Search.do?query=MVD&submit=Quick%0D%12023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MVD 20_50.701_78.701 Chr20:25016495-51804476 1.1 MYBL2 ENSG00000101057 MYB proto-oncogene like 2 chr20:42295754-42345136 The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] lung cancer ; bladder cancer; chronic obstructive pulmonary disease; lung cancer Mice homozygous for disruptions in this gene die as embryos shortly after implantation. TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0030154;cell differentiation;IBA|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051726;regulation of cell cycle;TAS|GO:0090307;mitotic spindle assembly;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0031523;Myb complex;IEA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001135;transcription factor activity, RNA polymerase II transcription factor recruiting;IBA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/MYBL2 https://www.uniprot.org/uniprot/P10244 https://www.ncbi.nlm.nih.gov/omim/?term=601415 http://www.informatics.jax.org/searchtool/Search.do?query=MYBL2&submit=Quick%0D%2644ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYBL2 12_78.016_106.016 Chr12:64973018-92996828 1.299 MYF5 ENSG00000111049 myogenic factor 5 chr12:81110691-81113452 Bone Mineral Density; Stroke Homozygotes for targeted null mutations exhibit delayed appearance of myotomal cells in somites, and lack the distal portion of ribs resulting in inability to breathe and lethality at birth. Other mutants lack the rib phenotype. CDO in myogenesis GO:0001502;cartilage condensation;IEA|GO:0001503;ossification;IEA|GO:0001756;somitogenesis;IEA|GO:0001952;regulation of cell-matrix adhesion;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;TAS|GO:0007519;skeletal muscle tissue development;TAS|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0042693;muscle cell fate commitment;ISS|GO:0043010;camera-type eye development;IEA|GO:0045663;positive regulation of myoblast differentiation;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048644;muscle organ morphogenesis;IEA|GO:0048704;embryonic skeletal system morphogenesis;IEA|GO:0048743;positive regulation of skeletal muscle fiber development;IBA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060415;muscle tissue morphogenesis;IEA|GO:1901741;positive regulation of myoblast fusion;IBA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0090575;RNA polymerase II transcription factor complex;ISS GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;TAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;ISS|GO:0046983;protein dimerization activity;IEA|GO:0070888;E-box binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MYF5 https://www.uniprot.org/uniprot/P13349 https://hpo.jax.org/app/browse/search?q=MYF5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=159990 http://www.informatics.jax.org/searchtool/Search.do?query=MYF5&submit=Quick%0D%4023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYF5 12_78.016_106.016 Chr12:64973018-92996828 1.299 MYF6 ENSG00000111046 myogenic factor 6 chr12:81101277-81103253 The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010] Bone Mineral Density Homozygotes for targeted mutations exhibit variable rib abnormalities, abnormal intercostal muscle morphology, reduced expression of Myf5, and postnatal mortality proportional to the severity of the rib defect. CDO in myogenesis GO:0001756;somitogenesis;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;IEA|GO:0007519;skeletal muscle tissue development;TAS|GO:0030154;cell differentiation;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0042693;muscle cell fate commitment;ISS|GO:0043403;skeletal muscle tissue regeneration;IEA|GO:0045663;positive regulation of myoblast differentiation;IBA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048743;positive regulation of skeletal muscle fiber development;IBA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0060415;muscle tissue morphogenesis;IEA|GO:1901741;positive regulation of myoblast fusion;IBA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0090575;RNA polymerase II transcription factor complex;ISS GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IBA|GO:0046982;protein heterodimerization activity;ISS|GO:0046983;protein dimerization activity;IEA|GO:0070888;E-box binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MYF6 https://www.uniprot.org/uniprot/P23409 https://hpo.jax.org/app/browse/search?q=MYF6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=159991 http://www.informatics.jax.org/searchtool/Search.do?query=MYF6&submit=Quick%0D%4022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYF6 20_50.701_78.701 Chr20:25016495-51804476 1.1 MYH7B ENSG00000078814 myosin heavy chain 7B chr20:33563206-33590240 The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010] breast cancer ; Blood Coagulation Factor Inhibitors; melanoma|Skin Neoplasms; bladder cancer; Type 2 Diabetes| edema | rosiglitazone Translocation of GLUT4 to the plasma membrane GO:0016020;membrane;IEA|GO:0016459;myosin complex;IEA|GO:0032982;myosin filament;IEA|GO:0097512;cardiac myofibril;IEA GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYH7B https://www.uniprot.org/uniprot/A7E2Y1 https://www.ncbi.nlm.nih.gov/omim/?term=609928 http://www.informatics.jax.org/searchtool/Search.do?query=MYH7B&submit=Quick%0D%1678ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYH7B 20_50.701_78.701 Chr20:25016495-51804476 1.1 MYL9 ENSG00000101335 myosin light chain 9 chr20:35169887-35178228 Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function GO:0006936;muscle contraction;TAS|GO:0006937;regulation of muscle contraction;TAS|GO:0070527;platelet aggregation;IMP GO:0001725;stress fiber;IEA|GO:0005829;cytosol;TAS|GO:0005859;muscle myosin complex;TAS|GO:0016459;myosin complex;IEA|GO:0016460;myosin II complex;IEA|GO:0030018;Z disc;IEA GO:0005509;calcium ion binding;IEA|GO:0008307;structural constituent of muscle;TAS|GO:0032036;myosin heavy chain binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYL9 https://www.uniprot.org/uniprot/P24844 https://www.ncbi.nlm.nih.gov/omim/?term=609905 http://www.informatics.jax.org/searchtool/Search.do?query=MYL9&submit=Quick%0D%2711ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYL9 20_50.701_78.701 Chr20:25016495-51804476 1.1 MYLK2 ENSG00000101306 myosin light chain kinase 2 chr20:30407111-30422492 This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008] breast cancer colorectal cancer lung cancer stomach cancer Homozygous knockout mice display impaired skeletal muscle twitch tension response to tetanic stimulation. GO:0006468;protein phosphorylation;IEA|GO:0006941;striated muscle contraction;IDA|GO:0007274;neuromuscular synaptic transmission;IEA|GO:0010628;positive regulation of gene expression;IDA|GO:0014816;skeletal muscle satellite cell differentiation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0018107;peptidyl-threonine phosphorylation;IDA|GO:0032971;regulation of muscle filament sliding;IDA|GO:0035556;intracellular signal transduction;IBA|GO:0035914;skeletal muscle cell differentiation;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0055008;cardiac muscle tissue morphogenesis;IMP|GO:0060048;cardiac muscle contraction;IC GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0030017;sarcomere;IC GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0004683;calmodulin-dependent protein kinase activity;ISS|GO:0004687;myosin light chain kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYLK2 https://www.uniprot.org/uniprot/Q9H1R3 https://www.ncbi.nlm.nih.gov/omim/?term=606566 http://www.informatics.jax.org/searchtool/Search.do?query=MYLK2&submit=Quick%0D%2703ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYLK2 19_20.212_38.212 Chr19:6565245-15124834 0.429 MYO1F ENSG00000142347 myosin IF chr19:8585674-8642461 Hearing Loss, Sensorineural; height; Body Height Mice homozygous for a knock-out allele exhibit impaired neutrophil migration and adhesion. GO:0008150;biological_process;ND GO:0016459;myosin complex;IEA|GO:0016461;unconventional myosin complex;NAS GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003779;actin binding;IEA|GO:0005516;calmodulin binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYO1F https://www.uniprot.org/uniprot/O00160 https://www.ncbi.nlm.nih.gov/omim/?term=601480 http://www.informatics.jax.org/searchtool/Search.do?query=MYO1F&submit=Quick%0D%8277ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYO1F 11_21.322_43.322 Chr11:11392976-25199292 1.269 MYOD1 ENSG00000129152 myogenic differentiation 1 chr11:17741115-17743678 This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008] Bone Mineral Density; Carotid Artery Diseases|Plaque, Atherosclerotic Mice homozygous for a knock-out allele exhibit abnormal muscle development. CDO in myogenesis GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006468;protein phosphorylation;TAS|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;TAS|GO:0007518;myoblast fate determination;IEA|GO:0007519;skeletal muscle tissue development;TAS|GO:0007520;myoblast fusion;IEA|GO:0009267;cellular response to starvation;IEA|GO:0010468;regulation of gene expression;IEA|GO:0014902;myotube differentiation;IEA|GO:0014904;myotube cell development;IDA|GO:0014908;myotube differentiation involved in skeletal muscle regeneration;IEA|GO:0030154;cell differentiation;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0042693;muscle cell fate commitment;ISS|GO:0043415;positive regulation of skeletal muscle tissue regeneration;IEA|GO:0043484;regulation of RNA splicing;IDA|GO:0043503;skeletal muscle fiber adaptation;IEA|GO:0043966;histone H3 acetylation;IEA|GO:0043967;histone H4 acetylation;IEA|GO:0045445;myoblast differentiation;IEA|GO:0045663;positive regulation of myoblast differentiation;IBA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048741;skeletal muscle fiber development;IEA|GO:0048743;positive regulation of skeletal muscle fiber development;IBA|GO:0051146;striated muscle cell differentiation;IEA|GO:0051149;positive regulation of muscle cell differentiation;TAS|GO:0071385;cellular response to glucocorticoid stimulus;IEA|GO:0071392;cellular response to estradiol stimulus;IEA|GO:0071453;cellular response to oxygen levels;IEA|GO:1901741;positive regulation of myoblast fusion;IDA|GO:2000818;negative regulation of myoblast proliferation;IEA GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA|GO:0030016;myofibril;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001047;core promoter binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0019899;enzyme binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0035257;nuclear hormone receptor binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0046983;protein dimerization activity;IEA|GO:0070888;E-box binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/MYOD1 https://www.uniprot.org/uniprot/P15172 https://hpo.jax.org/app/browse/search?q=MYOD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=159970 http://www.informatics.jax.org/searchtool/Search.do?query=MYOD1&submit=Quick%0D%6218ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOD1 12_78.016_106.016 Chr12:64973018-92996828 1.299 MYRFL ENSG00000166268 myelin regulatory factor-like chr12:70219084-70352877 Behcet Syndrome; Attention deficit hyperactivity disorder and conduct disorder; Attention Deficit and Disruptive Behavior Disorders; Heart Failure; Life Expectancy GO:0006355;regulation of transcription, DNA-templated;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/MYRFL http://www.informatics.jax.org/searchtool/Search.do?query=MYRFL&submit=Quick%0D%11746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=MYRFL 19_20.212_38.212 Chr19:6565245-15124834 0.429 NACC1 ENSG00000160877 nucleus accumbens associated 1 chr19:13228917-13251955 This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012] NEURODEVELOPMENTAL DISORDER WITH EPILEPSY CATARACTS FEEDINGDIFFICULTIES AND DELAYED BRAIN MYELINATION Mice homozygous for a null allele exhibit decreased sensitivity to cocaine and amphetamine. Mice homozygous for a different knock-out allele exhibit thoracic vertebral transformation and loss of the sixth lumbar vertebrae with decreaed rib number and reduced chondrocyte migration. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0051260;protein homooligomerization;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016604;nuclear body;IDA|GO:0030054;cell junction;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA http://www.genecards.org/index.php?path=/Search/keyword/NACC1 https://hpo.jax.org/app/browse/search?q=NACC1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610672 http://www.informatics.jax.org/searchtool/Search.do?query=NACC1&submit=Quick%0D%10524ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NACC1 19_20.212_38.212 Chr19:6565245-15124834 0.429 NANOS3 ENSG00000187556 nanos C2HC-type zinc finger 3 chr19:13972877-13991571 NANOS3 functions in human germ cell development; indeed, NANOS3 is now one of just two genes that has been directly shown to function in germ cell development across diverse species from flies, worms, frogs and mice to humans [the other is BOULE, a member of the Deleted in Azoospermia (DAZ) gene family]. . premature ovarian failure Homozygous inactivation of this locus results in both male and female infertility. Both male and female gonads are reduced in size and are devoid of germ cells, putatively due to impaired maintainence of primordial germ cells. GO:0006417;regulation of translation;IEA|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IMP|GO:0007283;spermatogenesis;IEA|GO:0017148;negative regulation of translation;IDA|GO:0030154;cell differentiation;IEA|GO:0048477;oogenesis;IEA|GO:0051726;regulation of cell cycle;IEA|GO:1900153;positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IDA|GO:2001234;negative regulation of apoptotic signaling pathway;IEA|GO:0006417;regulation of translation;IEA|GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;IMP|GO:0007283;spermatogenesis;IEA|GO:0017148;negative regulation of translation;IDA|GO:0030154;cell differentiation;IEA|GO:0048477;oogenesis;IEA|GO:0051726;regulation of cell cycle;IEA|GO:1900153;positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IDA|GO:2001234;negative regulation of apoptotic signaling pathway;IEA GO:0000932;P-body;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0010494;cytoplasmic stress granule;IEA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NANOS3 https://www.uniprot.org/uniprot/P60323 https://www.ncbi.nlm.nih.gov/omim/?term=608229 http://www.informatics.jax.org/searchtool/Search.do?query=NANOS3&submit=Quick%0D%238ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NANOS3 20_50.701_78.701 Chr20:25016495-51804476 1.1 NANP ENSG00000170191 N-acetylneuraminic acid phosphatase chr20:25593571-25604811 Sialic acid metabolism GO:0005975;carbohydrate metabolic process;IEA|GO:0006045;N-acetylglucosamine biosynthetic process;IEA|GO:0008152;metabolic process;IEA|GO:0016311;dephosphorylation;IEA|GO:0046380;N-acetylneuraminate biosynthetic process;IDA GO:0005575;cellular_component;ND|GO:0005829;cytosol;TAS GO:0016787;hydrolase activity;IEA|GO:0050124;N-acylneuraminate-9-phosphatase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/NANP https://www.ncbi.nlm.nih.gov/omim/?term=610763 http://www.informatics.jax.org/searchtool/Search.do?query=NANP&submit=Quick%0D%12648ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NANP 12_78.016_106.016 Chr12:64973018-92996828 1.299 NAP1L1 ENSG00000187109 nucleosome assembly protein 1 like 1 chr12:76438670-76478813 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015] Mice homozygous for a homozygous mutation exhibit prenatal lethality and impaired neural progenitor cell proliferation and differentiation. GO:0006260;DNA replication;TAS|GO:0006334;nucleosome assembly;TAS|GO:0008284;positive regulation of cell proliferation;TAS GO:0005634;nucleus;IEA|GO:0016020;membrane;IDA|GO:0042470;melanosome;IEA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NAP1L1 https://www.ncbi.nlm.nih.gov/omim/?term=164060 http://www.informatics.jax.org/searchtool/Search.do?query=NAP1L1&submit=Quick%0D%15780ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAP1L1 11_21.322_43.322 Chr11:11392976-25199292 1.269 NAV2 ENSG00000166833 neuron navigator 2 chr11:19372271-20143144 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Tobacco Use Disorder Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. GO:0003025;regulation of systemic arterial blood pressure by baroreceptor feedback;IEA|GO:0007399;nervous system development;IEA|GO:0007605;sensory perception of sound;IEA|GO:0007608;sensory perception of smell;IEA|GO:0007626;locomotory behavior;IEA|GO:0021554;optic nerve development;IEA|GO:0021563;glossopharyngeal nerve development;IEA|GO:0021564;vagus nerve development;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000166;nucleotide binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008201;heparin binding;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV2 https://www.ncbi.nlm.nih.gov/omim/?term=607026 http://www.informatics.jax.org/searchtool/Search.do?query=NAV2&submit=Quick%0D%11878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV2 12_78.016_106.016 Chr12:64973018-92996828 1.299 NAV3 ENSG00000067798 neuron navigator 3 chr12:78224685-78606790 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] Bone Density; Cholesterol; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; Cholesterol, LDL; Magnesium; Cardiomegaly; Tobacco Use Disorder; Asthma GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0016020;membrane;IEA GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NAV3 https://www.uniprot.org/uniprot/Q8IVL0 https://www.ncbi.nlm.nih.gov/omim/?term=611629 http://www.informatics.jax.org/searchtool/Search.do?query=NAV3&submit=Quick%0D%1263ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NAV3 22_57.194_74.694 Chr22:45430165-51215481 0.519 NCAPH2 ENSG00000025770 non-SMC condensin II complex subunit H2 chr22:50946645-50961901 This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010] Type 2 Diabetes| edema | rosiglitazone Mice homozygous for an ENU-induced single point mutation display a specific defect in T cell development but are otherwise viable, fertile and overtly healthy with no apparent defects in B cell development. Homozygous null mice die before E12.5. Condensation of Prophase Chromosomes GO:0030261;chromosome condensation;IEA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IDA|GO:0045171;intercellular bridge;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NCAPH2 https://www.uniprot.org/uniprot/Q6IBW4 https://www.ncbi.nlm.nih.gov/omim/?term=611230 http://www.informatics.jax.org/searchtool/Search.do?query=NCAPH2&submit=Quick%0D%703ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCAPH2 20_50.701_78.701 Chr20:25016495-51804476 1.1 NCOA3 ENSG00000124151 nuclear receptor coactivator 3 chr20:46130601-46285621 The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010] ovarian cancer; breast cancer; quantitative calcaneal ultrasound; lung cancer ; metabolic syndrome; Type 2 Diabetes| edema | rosiglitazone; lung cancer; response to treatment for acute lymphoblastic leukemia; breast cancer ; Precursor Cell Lymphoblastic Leukemia-Lymphoma; bone mass IGF-I levels sex steroid hormones; Bone Mineral Density; Endometrial Neoplasms; Lymphoma, Non-Hodgkin; obesity, localized; plasma HDL cholesterol (HDL-C) levels; bladder cancer; quantitative calcaneal ultrasounds; epithelial ovarian cancer ; chronic obstructive pulmonary disease; Alcoholism; insulin-like growth factor-1; estrogen metabolism; mammographic density; prostate cancer Nullizygous mice exhibit growth defects and reduced serum IGF-1 levels and may show impaired proliferative responses to various factors, delayed mammary gland growth and puberty, reproductive dysfunction, susceptibility to endotoxin shock, altered lymphopoiesis, and protection against obesity. MAPK6/MAPK4 signaling GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0016573;histone acetylation;IEA|GO:0030521;androgen receptor signaling pathway;NAS|GO:0030522;intracellular receptor signaling pathway;IBA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0035624;receptor transactivation;TAS|GO:0045618;positive regulation of keratinocyte differentiation;IMP|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0071392;cellular response to estradiol stimulus;IDA|GO:2001141;regulation of RNA biosynthetic process;IMP GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0043234;protein complex;IMP|GO:0070062;extracellular exosome;IDA GO:0003713;transcription coactivator activity;IDA|GO:0004402;histone acetyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0016922;ligand-dependent nuclear receptor binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IBA|GO:0035257;nuclear hormone receptor binding;IDA|GO:0046966;thyroid hormone receptor binding;NAS|GO:0046982;protein heterodimerization activity;IMP|GO:0046983;protein dimerization activity;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0050681;androgen receptor binding;NAS|GO:0097718;disordered domain specific binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NCOA3 https://www.uniprot.org/uniprot/Q9Y6Q9 https://www.ncbi.nlm.nih.gov/omim/?term=601937 http://www.informatics.jax.org/searchtool/Search.do?query=NCOA3&submit=Quick%0D%5598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOA3 20_50.701_78.701 Chr20:25016495-51804476 1.1 NCOA5 ENSG00000124160 nuclear receptor coactivator 5 chr20:44689624-44718591 This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Two alternatively spliced transcript variants for this gene have been described. However, the full length nature of one of the variants has not been determined. [provided by RefSeq, Jul 2008] BMI Male mice heterozygous for a knock-out allele exhibit infertility, impaired glucose homeostasis, liver dysplasia and HCC. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0042593;glucose homeostasis;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;IEA GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0015629;actin cytoskeleton;IDA GO:0003682;chromatin binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NCOA5 https://www.uniprot.org/uniprot/Q9HCD5 https://www.ncbi.nlm.nih.gov/omim/?term=616825 http://www.informatics.jax.org/searchtool/Search.do?query=NCOA5&submit=Quick%0D%5602ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOA5 20_50.701_78.701 Chr20:25016495-51804476 1.1 NCOA6 ENSG00000198646 nuclear receptor coactivator 6 chr20:33284722-33413452 The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011] Tobacco Use Disorder; lung cancer; plasma HDL cholesterol (HDL-C) levels; Birth Weight|Diabetes Mellitus Homozygotes for targeted null mutations exhibit retarded embryonic growth and defects of the placenta, heart, liver, and nervous system. Mutants die around midgestation. RUNX3 regulates YAP1-mediated transcription GO:0006260;DNA replication;NAS|GO:0006281;DNA repair;NAS|GO:0006310;DNA recombination;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;ISS|GO:0006974;cellular response to DNA damage stimulus;IDA|GO:0007420;brain development;ISS|GO:0007507;heart development;ISS|GO:0009725;response to hormone;TAS|GO:0019216;regulation of lipid metabolic process;TAS|GO:0030099;myeloid cell differentiation;IDA|GO:0030520;intracellular estrogen receptor signaling pathway;NAS|GO:0042921;glucocorticoid receptor signaling pathway;NAS|GO:0045893;positive regulation of transcription, DNA-templated;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;TAS|GO:0005829;cytosol;IDA|GO:0035097;histone methyltransferase complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0003682;chromatin binding;ISS|GO:0003713;transcription coactivator activity;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0030331;estrogen receptor binding;TAS|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IPI|GO:0046965;retinoid X receptor binding;TAS|GO:0046966;thyroid hormone receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/NCOA6 https://www.ncbi.nlm.nih.gov/omim/?term=605299 http://www.informatics.jax.org/searchtool/Search.do?query=NCOA6&submit=Quick%0D%16949ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCOA6 11_21.322_43.322 Chr11:11392976-25199292 1.269 NCR3LG1 ENSG00000188211 natural killer cell cytotoxicity receptor 3 ligand 1 chr11:17373273-17398888 B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011] Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell GO:0050776;regulation of immune response;TAS GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0019028;viral capsid;IEA GO:0005198;structural molecule activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NCR3LG1 https://www.ncbi.nlm.nih.gov/omim/?term=613714 http://www.informatics.jax.org/searchtool/Search.do?query=NCR3LG1&submit=Quick%0D%15988ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NCR3LG1 20_50.701_78.701 Chr20:25016495-51804476 1.1 NDRG3 ENSG00000101079 NDRG family member 3 chr20:35280169-35374481 the NDRG3 mRNA was localized to the outer layers of seminiferous epithelium, indicating that it may play a role in spermatogenesis. Homozygous mutation of this gene results in lethality before weaning. Mice heterozygous for another null allele exhibit reduced male fertility due to impaired double strand break repair in spermatocytes. GO:0007283;spermatogenesis;NAS|GO:0030154;cell differentiation;NAS|GO:0030308;negative regulation of cell growth;NAS|GO:0007283;spermatogenesis;NAS|GO:0030154;cell differentiation;NAS|GO:0030308;negative regulation of cell growth;NAS GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/NDRG3 https://www.uniprot.org/uniprot/Q9UGV2 https://www.ncbi.nlm.nih.gov/omim/?term=605273 http://www.informatics.jax.org/searchtool/Search.do?query=NDRG3&submit=Quick%0D%96ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDRG3 19_20.212_38.212 Chr19:6565245-15124834 0.429 NDUFA7 ENSG00000267855 NADH:ubiquinone oxidoreductase subunit A7 chr19:8373490-8386280 This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [provided by RefSeq, Mar 2011] drug-related genes ; Acquired Immunodeficiency Syndrome|Disease Progression; cognitive trait; Aging/ Telomere Length Complex I biogenesis GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032543;mitochondrial translation;ISS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0042773;ATP synthesis coupled electron transport;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005761;mitochondrial ribosome;ISS|GO:0016020;membrane;IEA|GO:0070469;respiratory chain;IEA GO:0003735;structural constituent of ribosome;ISS|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/NDUFA7 https://www.ncbi.nlm.nih.gov/omim/?term=602139 http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA7&submit=Quick%0D%20685ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA7 19_20.212_38.212 Chr19:6565245-15124834 0.429 NDUFB7 ENSG00000099795 NADH:ubiquinone oxidoreductase subunit B7 chr19:14676890-14682874 The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008] drug-related genes ; cognitive trait; HIV Infections|[X]Human immunodeficiency virus disease; Aging/ Telomere Length; Acquired Immunodeficiency Syndrome|Disease Progression Complex I biogenesis GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005758;mitochondrial intermembrane space;IDA|GO:0016020;membrane;IEA|GO:0070469;respiratory chain;IEA GO:0003954;NADH dehydrogenase activity;IEA|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/NDUFB7 https://www.uniprot.org/uniprot/P17568 https://www.ncbi.nlm.nih.gov/omim/?term=603842 http://www.informatics.jax.org/searchtool/Search.do?query=NDUFB7&submit=Quick%0D%2330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFB7 20_50.701_78.701 Chr20:25016495-51804476 1.1 NECAB3 ENSG00000125967 N-terminal EF-hand calcium binding protein 3 chr20:32244893-32262269 The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] GO:0009306;protein secretion;NAS|GO:0019538;protein metabolic process;IDA|GO:0042984;regulation of amyloid precursor protein biosynthetic process;IDA GO:0000137;Golgi cis cisterna;IDA|GO:0005634;nucleus;NAS|GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005794;Golgi apparatus;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NECAB3 https://www.uniprot.org/uniprot/Q96P71 https://www.ncbi.nlm.nih.gov/omim/?term=612478 http://www.informatics.jax.org/searchtool/Search.do?query=NECAB3&submit=Quick%0D%5889ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NECAB3 11_21.322_43.322 Chr11:11392976-25199292 1.269 NELL1 ENSG00000165973 neural EGFL like 1 chr11:20691117-21597227 This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Cholesterol; Exercise Test; Cholesterol, LDL; Calcium; longevity; Iron; Hemoglobins; Crohn Disease|Rectal Fistula; Platelet Count; Neuroblastoma; Type 2 Diabetes| edema | rosiglitazone; Albumins; Anticonvulsants; Amyotrophic Lateral Sclerosis|; Body Mass Index; Vitamin D; Lipoproteins, LDL; Forced Vital Capacity; Tobacco Use Disorder; Parkinson Disease; Crohn Disease; Asthma; Erythrocyte Count; Colitis, Ulcerative|Crohn Disease|; Leukocyte Count; Crohn's disease; Hypertrophy, Left Ventricular Homozygous mice display perinatal lethality, respiratory failure, impaired development of the intervertebral disks, vertebrae and calvarial bones, increased skull length, and abnormal curvature of the spine. GO:0007399;nervous system development;TAS|GO:0010468;regulation of gene expression;IDA|GO:0030154;cell differentiation;IEA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0033689;negative regulation of osteoblast proliferation;IDA|GO:0045669;positive regulation of osteoblast differentiation;IDA|GO:1903363;negative regulation of cellular protein catabolic process;IDA GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005737;cytoplasm;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NELL1 https://www.ncbi.nlm.nih.gov/omim/?term=602319 http://www.informatics.jax.org/searchtool/Search.do?query=NELL1&submit=Quick%0D%11669ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NELL1 20_50.701_78.701 Chr20:25016495-51804476 1.1 NEURL2 ENSG00000124257 neuralized E3 ubiquitin protein ligase 2 chr20:44517264-44519926 This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013] Muscular Dystrophies, Limb-Girdle Homozygous null mice display myofiber abnormalities in skeletal muscle and decreased body weight. Neddylation GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS http://www.genecards.org/index.php?path=/Search/keyword/NEURL2 https://www.uniprot.org/uniprot/Q9BR09 https://www.ncbi.nlm.nih.gov/omim/?term=608597 http://www.informatics.jax.org/searchtool/Search.do?query=NEURL2&submit=Quick%0D%5637ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NEURL2 20_50.701_78.701 Chr20:25016495-51804476 1.1 NFATC2 ENSG00000101096 nuclear factor of activated T-cells 2 chr20:50003494-50179370 This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012] Tobacco Use Disorder; Narcolepsy; Chronic renal failure|Kidney Failure, Chronic; depression; Socioeconomic Factors; Heart Failure; Type 2 Diabetes| edema | rosiglitazone Mutations in this locus cause altered immune system function such as decreased cytokine production by mast cells, increased Th2 responses after infection with a parasite but decreased Th1 responses after myobacterial infection, retarded thymic involutionand massive germinal center formation. RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001816;cytokine production;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006974;cellular response to DNA damage stimulus;IMP|GO:0010628;positive regulation of gene expression;IEA|GO:0014904;myotube cell development;IEA|GO:0016477;cell migration;IDA|GO:0030890;positive regulation of B cell proliferation;IMP|GO:0033173;calcineurin-NFAT signaling cascade;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042493;response to drug;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0050853;B cell receptor signaling pathway;IMP|GO:1901741;positive regulation of myoblast fusion;IEA GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0044798;nuclear transcription factor complex;IEA GO:0000976;transcription regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NFATC2 https://www.uniprot.org/uniprot/Q13469 https://www.ncbi.nlm.nih.gov/omim/?term=600490 http://www.informatics.jax.org/searchtool/Search.do?query=NFATC2&submit=Quick%0D%2649ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFATC2 19_20.212_38.212 Chr19:6565245-15124834 0.429 NFIX ENSG00000008441 nuclear factor I X chr19:13106422-13209610 The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012] Sotos-Like syndrome Mice homozygous for a mutation in this gene display postnatal lethality, hydrocephalus, partial agenesis of the corpus callosum, deformation of the spine due to delayed vertebral body ossification, degeneration of intervertebral disks, decreased mineralization and impaired endochondral ossification. RNA Polymerase III Abortive And Retractive Initiation GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006260;DNA replication;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/NFIX https://www.uniprot.org/uniprot/Q14938 https://hpo.jax.org/app/browse/search?q=NFIX&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=164005 http://www.informatics.jax.org/searchtool/Search.do?query=NFIX&submit=Quick%0D%483ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFIX 20_50.701_78.701 Chr20:25016495-51804476 1.1 NFS1 ENSG00000244005 NFS1, cysteine desulfurase chr20:34255977-34287281 Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010] Acquired Immunodeficiency Syndrome|Disease Progression Molybdenum cofactor biosynthesis GO:0000096;sulfur amino acid metabolic process;TAS|GO:0006461;protein complex assembly;TAS|GO:0006777;Mo-molybdopterin cofactor biosynthetic process;IEA|GO:0018283;iron incorporation into metallo-sulfur cluster;IDA|GO:0032324;molybdopterin cofactor biosynthetic process;TAS|GO:0044281;small molecule metabolic process;TAS|GO:0044571;[2Fe-2S] cluster assembly;IEA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;TAS GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0031071;cysteine desulfurase activity;EXP|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NFS1 https://www.ncbi.nlm.nih.gov/omim/?term=603485 http://www.informatics.jax.org/searchtool/Search.do?query=NFS1&submit=Quick%0D%19821ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NFS1 20_50.701_78.701 Chr20:25016495-51804476 1.1 NINL ENSG00000101004 ninein like chr20:25433341-25566153 Cholesterol, HDL Mice homozygous for a knock-out allele exhibit bone-marrow myeloid hyperplasia. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0045171;intercellular bridge;IDA GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NINL https://www.uniprot.org/uniprot/Q9Y2I6 https://www.ncbi.nlm.nih.gov/omim/?term=609580 http://www.informatics.jax.org/searchtool/Search.do?query=NINL&submit=Quick%0D%2638ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NINL 20_50.701_78.701 Chr20:25016495-51804476 1.1 NNAT ENSG00000053438 neuronatin chr20:36149617-36152092 The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. [provided by RefSeq, Apr 2016] Homozygous mice for a targeted mutation do not exhibit a detected mutant phenotype. GO:0006810;transport;TAS|GO:0007275;multicellular organism development;IEA|GO:0007420;brain development;TAS|GO:0009249;protein lipoylation;TAS|GO:0030182;neuron differentiation;IEA|GO:0032024;positive regulation of insulin secretion;IBA GO:0005737;cytoplasm;IBA http://www.genecards.org/index.php?path=/Search/keyword/NNAT https://www.uniprot.org/uniprot/Q16517 https://www.ncbi.nlm.nih.gov/omim/?term=603106 http://www.informatics.jax.org/searchtool/Search.do?query=NNAT&submit=Quick%0D%958ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NNAT 12_78.016_106.016 Chr12:64973018-92996828 1.299 NTS ENSG00000133636 neurotensin chr12:86268073-86276770 This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Neurotensin also exhibits antimicrobial activity against bacteria and fungi. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active. [provided by RefSeq, Oct 2014] schizophrenia; Restless Legs Syndrome|Tourette Syndrome; Bulimia; bipolar disorder; several psychiatric disorders Mice homozygous for a targeted null mutation are viable, fertile, and grossly normal, but display altered responses to antipsychotic drugs. G alpha (q) signalling events GO:0007165;signal transduction;NAS|GO:0050880;regulation of blood vessel size;IEA GO:0005576;extracellular region;IEA|GO:0030133;transport vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043679;axon terminus;IBA GO:0005184;neuropeptide hormone activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/NTS https://www.uniprot.org/uniprot/P30990 https://www.ncbi.nlm.nih.gov/omim/?term=162650 http://www.informatics.jax.org/searchtool/Search.do?query=NTS&submit=Quick%0D%6851ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NTS 11_21.322_43.322 Chr11:11392976-25199292 1.269 NUCB2 ENSG00000070081 nucleobindin 2 chr11:17229700-17371521 This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011] Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic Homozygous mutation of this gene results in decreased heart rate and increased serum alkaline phosphatase levels. GO:0005634;nucleus;IEA|GO:0005640;nuclear outer membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/NUCB2 https://www.uniprot.org/uniprot/A0A087WSV8 https://www.ncbi.nlm.nih.gov/omim/?term=608020 http://www.informatics.jax.org/searchtool/Search.do?query=NUCB2&submit=Quick%0D%1342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUCB2 12_78.016_106.016 Chr12:64973018-92996828 1.299 NUP107 ENSG00000111581 nucleoporin 107 chr12:69080514-69136785 This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease Mice homozygous for a CRISPR-generated allele exhibit reduced female fertility. Mitotic Prometaphase GO:0000973;posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery;IBA|GO:0006355;regulation of transcription, DNA-templated;IBA|GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0008585;female gonad development;IMP|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0051028;mRNA transport;IEA|GO:0051292;nuclear pore complex assembly;IMP|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005643;nuclear pore;IDA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031080;nuclear pore outer ring;IDA|GO:0031965;nuclear membrane;IDA|GO:0034399;nuclear periphery;IDA GO:0005487;nucleocytoplasmic transporter activity;IDA|GO:0005515;protein binding;IPI|GO:0017056;structural constituent of nuclear pore;IMP http://www.genecards.org/index.php?path=/Search/keyword/NUP107 https://www.uniprot.org/uniprot/P57740 https://hpo.jax.org/app/browse/search?q=NUP107&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607617 http://www.informatics.jax.org/searchtool/Search.do?query=NUP107&submit=Quick%0D%4089ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP107 22_57.194_74.694 Chr22:45430165-51215481 0.519 NUP50 ENSG00000093000 nucleoporin 50 chr22:45559722-45583896 The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Coronary Artery Disease Mice homozygous for a targeted null mutation die perinatally, displaying neural tube defects, exencephaly, and intrauterine growth retardation. tRNA processing in the nucleus GO:0006406;mRNA export from nucleus;TAS|GO:0006409;tRNA export from nucleus;TAS|GO:0006606;protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0007077;mitotic nuclear envelope disassembly;TAS|GO:0010827;regulation of glucose transport;TAS|GO:0015031;protein transport;IEA|GO:0016032;viral process;TAS|GO:0016925;protein sumoylation;TAS|GO:0019083;viral transcription;TAS|GO:0046907;intracellular transport;IEA|GO:0051028;mRNA transport;IEA|GO:0060964;regulation of gene silencing by miRNA;TAS|GO:0075733;intracellular transport of virus;TAS|GO:1900034;regulation of cellular response to heat;TAS GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;TAS|GO:0005654;nucleoplasm;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/NUP50 https://www.uniprot.org/uniprot/Q9UKX7 https://www.ncbi.nlm.nih.gov/omim/?term=604646 http://www.informatics.jax.org/searchtool/Search.do?query=NUP50&submit=Quick%0D%2211ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=NUP50 20_50.701_78.701 Chr20:25016495-51804476 1.1 OCSTAMP ENSG00000149635 osteoclast stimulatory transmembrane protein chr20:45169585-45179213 Mice homozygous for a knock-out allele exhibit defective osteoclast fusion but normal skeletal paramaters. GO:0030154;cell differentiation;IEA|GO:0034241;positive regulation of macrophage fusion;IEA|GO:0045672;positive regulation of osteoclast differentiation;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071391;cellular response to estrogen stimulus;IEA|GO:0072674;multinuclear osteoclast differentiation;IEA|GO:0090290;positive regulation of osteoclast proliferation;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/OCSTAMP https://www.uniprot.org/uniprot/Q9BR26 http://www.informatics.jax.org/searchtool/Search.do?query=OCSTAMP&submit=Quick%0D%9265ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OCSTAMP 22_57.194_74.694 Chr22:45430165-51215481 0.519 ODF3B ENSG00000177989 outer dense fiber of sperm tails 3B chr22:50968139-50971009 Multiple Sclerosis; Erythrocyte Indices; Type 2 Diabetes| edema | rosiglitazone http://www.genecards.org/index.php?path=/Search/keyword/ODF3B http://www.informatics.jax.org/searchtool/Search.do?query=ODF3B&submit=Quick%0D%14115ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ODF3B 2_187.744_190.744 Chr2:174108399-175872495 0.223 OLA1 ENSG00000138430 Obg like ATPase 1 chr2:174937175-175113426 This gene encodes a member of the GTPase protein family. The encoded protein interacts with breast cancer-associated gene 1 (BRCA1) and BRCA1-associated RING domain protein (BARD1), and is involved in centrosome regulation. Overexpression of this gene has been observed in multiple types of cancer and may be associated with poor survival. Pseudogenes of this gene have been defined on chromosomes 17 and 22. [provided by RefSeq, Jun 2016] Tobacco Use Disorder Mice homozygous for a null allele display partial neonatal lethality, embryonic developmental delay, delayed development of lung and liver, and reduced body size. Platelet degranulation GO:0002576;platelet degranulation;TAS|GO:0046034;ATP metabolic process;IDA GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0031093;platelet alpha granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0005525;GTP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IDA|GO:0043022;ribosome binding;IEA|GO:0043023;ribosomal large subunit binding;IEA|GO:0045296;cadherin binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/OLA1 https://www.uniprot.org/uniprot/Q9NTK5 https://www.ncbi.nlm.nih.gov/omim/?term=611175 http://www.informatics.jax.org/searchtool/Search.do?query=OLA1&submit=Quick%0D%7728ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OLA1 19_20.212_38.212 Chr19:6565245-15124834 0.429 OLFM2 ENSG00000105088 olfactomedin 2 chr19:9964394-10047228 Menarche; glaucoma, primary open-angle Mice homozygous for a knock-out allele exhibit moderate locomotor and anxiety-related behavioral abnormalities, altered visual evoked potential, and reduced compactness of myelin sheaths in the optic nerve. GO:0007601;visual perception;IEA|GO:0007626;locomotory behavior;IEA|GO:0009306;protein secretion;IDA|GO:0051152;positive regulation of smooth muscle cell differentiation;IMP GO:0005576;extracellular region;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0032281;AMPA glutamate receptor complex;IEA|GO:0045202;synapse;IEA|GO:0097060;synaptic membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/OLFM2 https://www.uniprot.org/uniprot/O95897 https://www.ncbi.nlm.nih.gov/omim/?term=617492 http://www.informatics.jax.org/searchtool/Search.do?query=OLFM2&submit=Quick%0D%3232ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OLFM2 19_20.212_38.212 Chr19:6565245-15124834 0.429 OR1M1 ENSG00000170929 olfactory receptor family 1 subfamily M member 1 chr19:9203855-9204889 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR1M1 http://www.informatics.jax.org/searchtool/Search.do?query=OR1M1&submit=Quick%0D%12812ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR1M1 19_20.212_38.212 Chr19:6565245-15124834 0.429 OR2Z1 ENSG00000181733 olfactory receptor family 2 subfamily Z member 1 chr19:8841316-8842371 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] height Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IBA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR2Z1 http://www.informatics.jax.org/searchtool/Search.do?query=OR2Z1&submit=Quick%0D%14659ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR2Z1 19_20.212_38.212 Chr19:6565245-15124834 0.429 OR7A10 ENSG00000127515 olfactory receptor family 7 subfamily A member 10 chr19:14951760-14952689 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7A10 https://www.uniprot.org/uniprot/O76100 http://www.informatics.jax.org/searchtool/Search.do?query=OR7A10&submit=Quick%0D%6044ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7A10 19_20.212_38.212 Chr19:6565245-15124834 0.429 OR7A17 ENSG00000185385 olfactory receptor family 7 subfamily A member 17 chr19:14991138-14992264 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7A17 http://www.informatics.jax.org/searchtool/Search.do?query=OR7A17&submit=Quick%0D%15408ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7A17 19_20.212_38.212 Chr19:6565245-15124834 0.429 OR7A5 ENSG00000188269 olfactory receptor family 7 subfamily A member 5 chr19:14903302-14946188 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/OR7A5 http://www.informatics.jax.org/searchtool/Search.do?query=OR7A5&submit=Quick%0D%15999ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7A5 19_20.212_38.212 Chr19:6565245-15124834 0.429 OR7C1 ENSG00000127530 olfactory receptor family 7 subfamily C member 1 chr19:14909958-14911023 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007283;spermatogenesis;TAS|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7C1 https://www.uniprot.org/uniprot/O76099 http://www.informatics.jax.org/searchtool/Search.do?query=OR7C1&submit=Quick%0D%6049ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7C1 19_20.212_38.212 Chr19:6565245-15124834 0.429 OR7C2 ENSG00000127529 olfactory receptor family 7 subfamily C member 2 chr19:15052301-15053260 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7C2 https://www.uniprot.org/uniprot/O60412 http://www.informatics.jax.org/searchtool/Search.do?query=OR7C2&submit=Quick%0D%6048ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7C2 19_20.212_38.212 Chr19:6565245-15124834 0.429 OR7D2 ENSG00000188000 olfactory receptor family 7 subfamily D member 2 chr19:9296279-9299493 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7D2 http://www.informatics.jax.org/searchtool/Search.do?query=OR7D2&submit=Quick%0D%15942ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7D2 19_20.212_38.212 Chr19:6565245-15124834 0.429 OR7D4 ENSG00000174667 olfactory receptor family 7 subfamily D member 4 chr19:9324526-9325542 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7D4 https://www.ncbi.nlm.nih.gov/omim/?term=611538 http://www.informatics.jax.org/searchtool/Search.do?query=OR7D4&submit=Quick%0D%13558ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7D4 19_20.212_38.212 Chr19:6565245-15124834 0.429 OR7E24 ENSG00000237521 olfactory receptor family 7 subfamily E member 24 chr19:9361606-9362820 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7E24 http://www.informatics.jax.org/searchtool/Search.do?query=OR7E24&submit=Quick%0D%19510ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7E24 19_20.212_38.212 Chr19:6565245-15124834 0.429 OR7G1 ENSG00000161807 olfactory receptor family 7 subfamily G member 1 chr19:9225274-9226439 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Waist Circumference Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7G1 http://www.informatics.jax.org/searchtool/Search.do?query=OR7G1&submit=Quick%0D%10609ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7G1 19_20.212_38.212 Chr19:6565245-15124834 0.429 OR7G2 ENSG00000170923 olfactory receptor family 7 subfamily G member 2 chr19:9212945-9213982 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7G2 http://www.informatics.jax.org/searchtool/Search.do?query=OR7G2&submit=Quick%0D%12809ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7G2 19_20.212_38.212 Chr19:6565245-15124834 0.429 OR7G3 ENSG00000170920 olfactory receptor family 7 subfamily G member 3 chr19:9236688-9237626 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] Olfactory Signaling Pathway GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IBA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IBA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/OR7G3 http://www.informatics.jax.org/searchtool/Search.do?query=OR7G3&submit=Quick%0D%12807ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OR7G3 12_78.016_106.016 Chr12:64973018-92996828 1.299 OSBPL8 ENSG00000091039 oxysterol binding protein like 8 chr12:76745577-76953589 This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Tobacco Use Disorder Mice homozygous for a gene trap allele exhibit elevated of HDL and gender-specific alterations in lipid metabolism. Acyl chain remodelling of PS GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0010891;negative regulation of sequestering of triglyceride;IDA|GO:0015914;phospholipid transport;IDA|GO:0030336;negative regulation of cell migration;IEA|GO:0032148;activation of protein kinase B activity;ISS|GO:0036150;phosphatidylserine acyl-chain remodeling;TAS|GO:0045444;fat cell differentiation;IDA|GO:0046628;positive regulation of insulin receptor signaling pathway;IEA|GO:0051897;positive regulation of protein kinase B signaling;ISS|GO:0090204;protein localization to nuclear pore;IEA|GO:2001275;positive regulation of glucose import in response to insulin stimulus;ISS GO:0005634;nucleus;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA GO:0001786;phosphatidylserine binding;IDA|GO:0005548;phospholipid transporter activity;TAS|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0070273;phosphatidylinositol-4-phosphate binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/OSBPL8 https://www.uniprot.org/uniprot/Q9BZF1 https://www.ncbi.nlm.nih.gov/omim/?term=606736 http://www.informatics.jax.org/searchtool/Search.do?query=OSBPL8&submit=Quick%0D%2131ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OSBPL8 20_50.701_78.701 Chr20:25016495-51804476 1.1 OSER1 ENSG00000132823 oxidative stress responsive serine rich 1 chr20:42825136-42839431 Cognition http://www.genecards.org/index.php?path=/Search/keyword/OSER1 https://www.uniprot.org/uniprot/Q9NX31 http://www.informatics.jax.org/searchtool/Search.do?query=OSER1&submit=Quick%0D%6747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OSER1 11_21.322_43.322 Chr11:11392976-25199292 1.269 OTOG ENSG00000188162 otogelin chr11:17568920-17668697 The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] Stroke; Parkinson Disease; Hemoglobins Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. GO:0007605;sensory perception of sound;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA GO:0005198;structural molecule activity;IEA|GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOG https://hpo.jax.org/app/browse/search?q=OTOG&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604487 http://www.informatics.jax.org/searchtool/Search.do?query=OTOG&submit=Quick%0D%15978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOG 12_78.016_106.016 Chr12:64973018-92996828 1.299 OTOGL ENSG00000165899 otogelin like chr12:80603233-80772870 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] Moderate Sensorineural Hearing Loss GO:0007605;sensory perception of sound;IEA|GO:0046373;L-arabinose metabolic process;IEA GO:0005576;extracellular region;IEA GO:0046556;alpha-L-arabinofuranosidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/OTOGL https://hpo.jax.org/app/browse/search?q=OTOGL&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614925 http://www.informatics.jax.org/searchtool/Search.do?query=OTOGL&submit=Quick%0D%11650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOGL 19_20.212_38.212 Chr19:6565245-15124834 0.429 P2RY11 ENSG00000244165 purinergic receptor P2Y11 chr19:10222214-10226048 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. Naturally occuring read-through transcripts, resulting from intergenic splicing between this gene and an immediately upstream gene (PPAN, encoding peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. [provided by RefSeq, Jul 2008] Narcolepsy; myocardial infarct G alpha (s) signalling events GO:0001973;adenosine receptor signaling pathway;IEA|GO:0006952;defense response;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IDA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;TAS|GO:0019722;calcium-mediated signaling;IDA|GO:0023041;neuronal signal transduction;IDA|GO:0035589;G-protein coupled purinergic nucleotide receptor signaling pathway;IEA|GO:0071318;cellular response to ATP;IDA GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004872;receptor activity;TAS|GO:0004930;G-protein coupled receptor activity;IEA|GO:0030594;neurotransmitter receptor activity;IDA|GO:0045028;G-protein coupled purinergic nucleotide receptor activity;IEA|GO:0045031;ATP-activated adenosine receptor activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/P2RY11 https://hpo.jax.org/app/browse/search?q=P2RY11&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602697 http://www.informatics.jax.org/searchtool/Search.do?query=P2RY11&submit=Quick%0D%19832ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RY11 20_50.701_78.701 Chr20:25016495-51804476 1.1 PABPC1L ENSG00000101104 poly(A) binding protein cytoplasmic 1 like chr20:43538703-43587676 Mice homozygous for a knock-out allele exhibit impaired oocyte maturation and female infertility. GO:0001556;oocyte maturation;IEA|GO:0006338;chromatin remodeling;IEA|GO:0006378;mRNA polyadenylation;IEA|GO:0048096;chromatin-mediated maintenance of transcription;IEA|GO:0051647;nucleus localization;IEA GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPC1L https://www.uniprot.org/uniprot/Q4VXU2 http://www.informatics.jax.org/searchtool/Search.do?query=PABPC1L&submit=Quick%0D%2651ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPC1L 16_129.974_134.474 Chr16:87933002-90108832 0.174 PABPN1L ENSG00000205022 poly(A) binding protein nuclear 1 like, cytoplasmic chr16:88928034-88933068 GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PABPN1L http://www.informatics.jax.org/searchtool/Search.do?query=PABPN1L&submit=Quick%0D%17450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PABPN1L 19_20.212_38.212 Chr19:6565245-15124834 0.429 PALM3 ENSG00000187867 paralemmin 3 chr19:14164177-14169971 GO:0001960;negative regulation of cytokine-mediated signaling pathway;IDA|GO:0008063;Toll signaling pathway;IMP|GO:0032496;response to lipopolysaccharide;IDA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PALM3 http://www.informatics.jax.org/searchtool/Search.do?query=PALM3&submit=Quick%0D%15919ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PALM3 22_57.194_74.694 Chr22:45430165-51215481 0.519 PANX2 ENSG00000073150 pannexin 2 chr22:50609160-50618723 The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 1 are abundantly expressed in central nervous system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage Mice homozygous for a knock-out allele exhibit a slight protection from the neurological defects induced by ischemic brain injury. Electric Transmission Across Gap Junctions GO:0002931;response to ischemia;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IBA|GO:0007267;cell-cell signaling;IBA|GO:0034214;protein hexamerization;ISS|GO:0055085;transmembrane transport;IEA GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0005921;gap junction;IEA|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA GO:0015267;channel activity;IEA|GO:0022829;wide pore channel activity;IBA|GO:0055077;gap junction hemi-channel activity;ISS http://www.genecards.org/index.php?path=/Search/keyword/PANX2 https://www.uniprot.org/uniprot/Q96RD6 https://www.ncbi.nlm.nih.gov/omim/?term=608421 http://www.informatics.jax.org/searchtool/Search.do?query=PANX2&submit=Quick%0D%1463ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PANX2 20_50.701_78.701 Chr20:25016495-51804476 1.1 PARD6B ENSG00000124171 par-6 family cell polarity regulator beta chr20:49348081-49373332 This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. [provided by RefSeq, Jul 2008] Bipolar Disorder Tight junction interactions GO:0006461;protein complex assembly;IDA|GO:0007043;cell-cell junction assembly;TAS|GO:0007049;cell cycle;IEA|GO:0007163;establishment or maintenance of cell polarity;TAS|GO:0007409;axonogenesis;TAS|GO:0030334;regulation of cell migration;TAS|GO:0051301;cell division;IEA|GO:0070830;bicellular tight junction assembly;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005923;bicellular tight junction;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0030054;cell junction;IEA|GO:0043234;protein complex;IEA|GO:0045177;apical part of cell;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PARD6B https://www.uniprot.org/uniprot/Q9BYG5 https://www.ncbi.nlm.nih.gov/omim/?term=608975 http://www.informatics.jax.org/searchtool/Search.do?query=PARD6B&submit=Quick%0D%5604ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARD6B 11_21.322_43.322 Chr11:11392976-25199292 1.269 PARVA ENSG00000197702 parvin alpha chr11:12398732-12552348 This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010] Pulse; Triglycerides; Mortality; Cardiomegaly; Iron; Heart Failure; Forced Expiratory Volume; Arteries Embryos homozygous for a null allele are growth retarded and die prior to E14.5 exhibiting abnormal cardiac morphogenesis, severe vascular defects, edema, microaneurysms, hemorrhage, and severe kidney dysgenesis or agenesis. Regulation of cytoskeletal remodeling and cell spreading by IPP complex components GO:0002040;sprouting angiogenesis;IEA|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0007155;cell adhesion;IEA|GO:0007163;establishment or maintenance of cell polarity;IEA|GO:0031532;actin cytoskeleton reorganization;IEA|GO:0034113;heterotypic cell-cell adhesion;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0070252;actin-mediated cell contraction;IEA|GO:0071670;smooth muscle cell chemotaxis;IEA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005925;focal adhesion;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030027;lamellipodium;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PARVA https://www.ncbi.nlm.nih.gov/omim/?term=608120 http://www.informatics.jax.org/searchtool/Search.do?query=PARVA&submit=Quick%0D%16692ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PARVA 12_78.016_106.016 Chr12:64973018-92996828 1.299 PAWR ENSG00000177425 pro-apoptotic WT1 regulator chr12:79968759-80084877 The tumor suppressor WT1 represses and activates transcription. The protein encoded by this gene is a WT1-interacting protein that itself functions as a transcriptional repressor. It contains a putative leucine zipper domain which interacts with the zinc finger DNA binding domain of WT1. This protein is specifically upregulated during apoptosis of prostate cells. [provided by RefSeq, Jul 2008] Bulimia; Schizophrenia; Body Weight; Cholesterol, HDL; Attention Deficit and Disruptive Behavior Disorders; cocaine dependence; Amphetamine-Related Disorders; Attention deficit hyperactivity disorder and conduct disorder Mice homozygous for disruptions in this gene show lower levels of apoptosis and increased proliferation of both T cells and B cells. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0030889;negative regulation of B cell proliferation;IEA|GO:0042094;interleukin-2 biosynthetic process;IEA|GO:0042130;negative regulation of T cell proliferation;IEA|GO:0042986;positive regulation of amyloid precursor protein biosynthetic process;IEA|GO:0043065;positive regulation of apoptotic process;NAS|GO:0048147;negative regulation of fibroblast proliferation;IEA|GO:0050860;negative regulation of T cell receptor signaling pathway;IEA|GO:0051017;actin filament bundle assembly;ISS|GO:0097190;apoptotic signaling pathway;IEA|GO:1901300;positive regulation of hydrogen peroxide-mediated programmed cell death;IEA|GO:2000774;positive regulation of cellular senescence;IEA GO:0000790;nuclear chromatin;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;TAS|GO:0005884;actin filament;ISS GO:0003714;transcription corepressor activity;TAS|GO:0003779;actin binding;ISS|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IDA|GO:0043522;leucine zipper domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PAWR https://www.ncbi.nlm.nih.gov/omim/?term=601936 http://www.informatics.jax.org/searchtool/Search.do?query=PAWR&submit=Quick%0D%14019ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PAWR 20_50.701_78.701 Chr20:25016495-51804476 1.1 PCIF1 ENSG00000100982 PDX1 C-terminal inhibiting factor 1 chr20:44563267-44576662 Triglycerides; Cholesterol, HDL GO:0010923;negative regulation of phosphatase activity;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0045171;intercellular bridge;IDA http://www.genecards.org/index.php?path=/Search/keyword/PCIF1 https://www.uniprot.org/uniprot/Q9H4Z3 http://www.informatics.jax.org/searchtool/Search.do?query=PCIF1&submit=Quick%0D%2629ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCIF1 19_20.212_38.212 Chr19:6565245-15124834 0.429 PCP2 ENSG00000174788 Purkinje cell protein 2 chr19:7696497-7698634 Mice homozygous for a null mutation do not exhibit any detectable abnormalities. G alpha (i) signalling events GO:0050790;regulation of catalytic activity;IEA GO:0030695;GTPase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PCP2 http://www.informatics.jax.org/searchtool/Search.do?query=PCP2&submit=Quick%0D%13575ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PCP2 11_21.322_43.322 Chr11:11392976-25199292 1.269 PDE3B ENSG00000152270 phosphodiesterase 3B chr11:14665269-14892350 Adiponectin; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2 Mutants show abnormalities in glycerol and fatty acid levels, along with changes in adipocyte morphology and decreased body fat percentage. G alpha (s) signalling events GO:0001525;angiogenesis;IEA|GO:0006198;cAMP catabolic process;IEP|GO:0007162;negative regulation of cell adhesion;IMP|GO:0007165;signal transduction;IEA|GO:0016525;negative regulation of angiogenesis;IMP|GO:0032869;cellular response to insulin stimulus;ISS|GO:0033629;negative regulation of cell adhesion mediated by integrin;IC|GO:0043951;negative regulation of cAMP-mediated signaling;TAS|GO:0050995;negative regulation of lipid catabolic process;IMP GO:0005783;endoplasmic reticulum;ISS|GO:0005794;Golgi apparatus;ISS|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0032045;guanyl-nucleotide exchange factor complex;IDA GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;EXP|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0004119;cGMP-inhibited cyclic-nucleotide phosphodiesterase activity;TAS|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0043422;protein kinase B binding;ISS|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PDE3B https://www.uniprot.org/uniprot/Q13370 https://www.ncbi.nlm.nih.gov/omim/?term=602047 http://www.informatics.jax.org/searchtool/Search.do?query=PDE3B&submit=Quick%0D%9530ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE3B 19_20.212_38.212 Chr19:6565245-15124834 0.429 PDE4A ENSG00000065989 phosphodiesterase 4A chr19:10527449-10580305 The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] Coronary Disease; Type 2 Diabetes| edema | rosiglitazone Homozygous null mice have a normal phenotype. G alpha (s) signalling events GO:0006198;cAMP catabolic process;IDA|GO:0007165;signal transduction;TAS|GO:0007608;sensory perception of smell;IEA|GO:0010738;regulation of protein kinase A signaling;IEA|GO:0035690;cellular response to drug;IEA|GO:0043949;regulation of cAMP-mediated signaling;IEA GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;TAS|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0004115;3',5'-cyclic-AMP phosphodiesterase activity;TAS|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030552;cAMP binding;IGI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDE4A https://www.uniprot.org/uniprot/P27815 https://www.ncbi.nlm.nih.gov/omim/?term=600126 http://www.informatics.jax.org/searchtool/Search.do?query=PDE4A&submit=Quick%0D%1201ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE4A 1_27.421_30.421 Chr1:13285556-14610086 0.125 PDPN ENSG00000162493 podoplanin chr1:13909960-13944452 This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Tobacco Use Disorder; Lymphedema; ovarian cancer Homozygous null neonates die exhibiting respiratory failure. Mice homozygous for another knock-out allele exhibit blood-lymph mixing and intestinal edema. GPVI-mediated activation cascade GO:0000902;cell morphogenesis;IEA|GO:0001946;lymphangiogenesis;IEA|GO:0006693;prostaglandin metabolic process;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0008283;cell proliferation;IEA|GO:0008360;regulation of cell shape;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0030168;platelet activation;TAS|GO:0030324;lung development;IEA|GO:0048286;lung alveolus development;IEA|GO:0051272;positive regulation of cellular component movement;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA GO:0001726;ruffle;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009897;external side of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030027;lamellipodium;IEA|GO:0030175;filopodium;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0031527;filopodium membrane;IEA|GO:0031528;microvillus membrane;IEA|GO:0032587;ruffle membrane;IEA|GO:0042995;cell projection;IEA GO:0005102;receptor binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PDPN https://www.ncbi.nlm.nih.gov/omim/?term=608863 http://www.informatics.jax.org/searchtool/Search.do?query=PDPN&submit=Quick%0D%10715ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDPN 20_50.701_78.701 Chr20:25016495-51804476 1.1 PDRG1 ENSG00000088356 p53 and DNA damage regulated 1 chr20:30532758-30539895 Basophils GO:0006457;protein folding;IEA GO:0005737;cytoplasm;IEA|GO:0016272;prefoldin complex;IEA GO:0051082;unfolded protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PDRG1 https://www.uniprot.org/uniprot/Q9NUG6 https://www.ncbi.nlm.nih.gov/omim/?term=610789 http://www.informatics.jax.org/searchtool/Search.do?query=PDRG1&submit=Quick%0D%1998ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PDRG1 19_20.212_38.212 Chr19:6565245-15124834 0.429 PET100 ENSG00000229833 PET100 homolog chr19:7694623-7696842 Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] MITOCHONDRIAL COMPLEX IV DEFICIENCY GO:0033617;mitochondrial respiratory chain complex IV assembly;IBA GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031305;integral component of mitochondrial inner membrane;IBA GO:0051082;unfolded protein binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/PET100 https://hpo.jax.org/app/browse/search?q=PET100&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614770 http://www.informatics.jax.org/searchtool/Search.do?query=PET100&submit=Quick%0D%18936ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PET100 19_20.212_38.212 Chr19:6565245-15124834 0.429 PEX11G ENSG00000104883 peroxisomal biogenesis factor 11 gamma chr19:7541761-7562335 The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] GO:0016559;peroxisome fission;IDA|GO:0044375;regulation of peroxisome size;IDA GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005779;integral component of peroxisomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031231;intrinsic component of peroxisomal membrane;IDA|GO:0043234;protein complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PEX11G https://www.uniprot.org/uniprot/Q96HA9 https://www.ncbi.nlm.nih.gov/omim/?term=607583 http://www.informatics.jax.org/searchtool/Search.do?query=PEX11G&submit=Quick%0D%3189ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX11G 20_50.701_78.701 Chr20:25016495-51804476 1.1 PHF20 ENSG00000025293 PHD finger protein 20 chr20:34359896-34538303 Cholesterol, LDL; Cholesterol Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased body size and total body fat amount, and abnormal skeletal and hematopoietic development. Stabilization of p53 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0043981;histone H4-K5 acetylation;IDA|GO:0043982;histone H4-K8 acetylation;IDA|GO:0043984;histone H4-K16 acetylation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0000123;histone acetyltransferase complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0031965;nuclear membrane;IDA|GO:0071339;MLL1 complex;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0043995;histone acetyltransferase activity (H4-K5 specific);IDA|GO:0043996;histone acetyltransferase activity (H4-K8 specific);IDA|GO:0046872;metal ion binding;IEA|GO:0046972;histone acetyltransferase activity (H4-K16 specific);IDA http://www.genecards.org/index.php?path=/Search/keyword/PHF20 https://www.uniprot.org/uniprot/Q9BVI0 https://www.ncbi.nlm.nih.gov/omim/?term=610335 http://www.informatics.jax.org/searchtool/Search.do?query=PHF20&submit=Quick%0D%699ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHF20 12_78.016_106.016 Chr12:64973018-92996828 1.299 PHLDA1 ENSG00000139289 pleckstrin homology like domain family A member 1 chr12:76419227-76427712 This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008] Mice homozygous for a targeted null mutation are viable, fertile and morphologically normal. Relative to wild-type littermates, homozygous null mice display no obvious defects in immune function, Fas expression or T-cell apoptosis. Interaction between PHLDA1 and AURKA GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0006915;apoptotic process;IEA|GO:0045210;FasL biosynthetic process;IEA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0031410;cytoplasmic vesicle;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PHLDA1 https://www.uniprot.org/uniprot/Q8WV24 https://www.ncbi.nlm.nih.gov/omim/?term=605335 http://www.informatics.jax.org/searchtool/Search.do?query=PHLDA1&submit=Quick%0D%7865ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PHLDA1 20_50.701_78.701 Chr20:25016495-51804476 1.1 PI3 ENSG00000124102 peptidase inhibitor 3 chr20:43803517-43805185 This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2014] Hepatopulmonary Syndrome|Liver Cirrhosis; psoriasis; Respiratory Distress Syndrome, Adult Formation of the cornified envelope GO:0007620;copulation;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0018149;peptide cross-linking;IDA|GO:0019730;antimicrobial humoral response;TAS|GO:0070268;cornification;TAS|GO:0098773;skin epidermis development;IC GO:0001533;cornified envelope;TAS|GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0004866;endopeptidase inhibitor activity;TAS|GO:0004867;serine-type endopeptidase inhibitor activity;TAS|GO:0030280;structural constituent of epidermis;IDA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PI3 https://www.uniprot.org/uniprot/P19957 https://www.ncbi.nlm.nih.gov/omim/?term=182257 http://www.informatics.jax.org/searchtool/Search.do?query=PI3&submit=Quick%0D%5587ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PI3 16_129.974_134.474 Chr16:87933002-90108832 0.174 PIEZO1 ENSG00000103335 piezo type mechanosensitive ion channel component 1 chr16:88781751-88851619 The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015] Arteries Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;ISS|GO:0033625;positive regulation of integrin activation;IMP|GO:0033634;positive regulation of cell-cell adhesion mediated by integrin;IMP|GO:0034220;ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0050982;detection of mechanical stimulus;IBA|GO:0071260;cellular response to mechanical stimulus;IBA|GO:0098655;cation transmembrane transport;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031258;lamellipodium membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0042995;cell projection;IEA GO:0005261;cation channel activity;IBA|GO:0008381;mechanically-gated ion channel activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIEZO1 https://www.uniprot.org/uniprot/Q92508 https://hpo.jax.org/app/browse/search?q=PIEZO1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611184 http://www.informatics.jax.org/searchtool/Search.do?query=PIEZO1&submit=Quick%0D%3008ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIEZO1 20_50.701_78.701 Chr20:25016495-51804476 1.1 PIGT ENSG00000124155 phosphatidylinositol glycan anchor biosynthesis class T chr20:44044717-44054884 This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 Mice homozygous for a null mutation do not survive. Attachment of GPI anchor to uPAR GO:0006506;GPI anchor biosynthetic process;IEA|GO:0016255;attachment of GPI anchor to protein;IEA|GO:0030182;neuron differentiation;IEA|GO:0051402;neuron apoptotic process;IEA GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;NAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0042765;GPI-anchor transamidase complex;IEA GO:0003923;GPI-anchor transamidase activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PIGT https://www.uniprot.org/uniprot/Q969N2 https://hpo.jax.org/app/browse/search?q=PIGT&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610272 http://www.informatics.jax.org/searchtool/Search.do?query=PIGT&submit=Quick%0D%5599ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGT 20_50.701_78.701 Chr20:25016495-51804476 1.1 PIGU ENSG00000101464 phosphatidylinositol glycan anchor biosynthesis class U chr20:33148346-33264910 The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008] melanoma|Skin Neoplasms; Melanoma Attachment of GPI anchor to uPAR GO:0006506;GPI anchor biosynthetic process;IDA|GO:0016255;attachment of GPI anchor to protein;TAS|GO:0046425;regulation of JAK-STAT cascade;IDA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IC|GO:0042765;GPI-anchor transamidase complex;IDA GO:0003923;GPI-anchor transamidase activity;IMP|GO:0034235;GPI anchor binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/PIGU https://www.uniprot.org/uniprot/Q9H490 https://www.ncbi.nlm.nih.gov/omim/?term=608528 http://www.informatics.jax.org/searchtool/Search.do?query=PIGU&submit=Quick%0D%2751ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIGU 11_21.322_43.322 Chr11:11392976-25199292 1.269 PIK3C2A ENSG00000011405 phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha chr11:17099277-17229530 The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008] esophageal adenocarcinoma; prostate cancer; Carcinoma, Squamous Cell|Gingival Neoplasms|Mandibular Neoplasms|Mouth Neoplasms|Squamous cell carcinoma|Tongue Neoplasms; Schizophrenia; Tobacco Use Disorder; Endometrial Neoplasms Mice homozygous for a gene trap allele show chronic renal failure and a range of renal lesions that precede immune involvement. Mice heterozygous for a kinase-inactivating allele show defects in platelet formation, platelet membrane morphology and dynamics, and an enrichment of barbell proplatelets. Clathrin-mediated endocytosis GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006887;exocytosis;IEA|GO:0006897;endocytosis;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0008286;insulin receptor signaling pathway;TAS|GO:0014829;vascular smooth muscle contraction;TAS|GO:0016310;phosphorylation;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;TAS|GO:0048015;phosphatidylinositol-mediated signaling;IEA|GO:0048268;clathrin coat assembly;TAS|GO:0061024;membrane organization;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005942;phosphatidylinositol 3-kinase complex;IBA|GO:0016020;membrane;IDA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031982;vesicle;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0035004;phosphatidylinositol 3-kinase activity;TAS|GO:0035005;1-phosphatidylinositol-4-phosphate 3-kinase activity;TAS|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIK3C2A https://www.uniprot.org/uniprot/O00443 https://hpo.jax.org/app/browse/search?q=PIK3C2A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603601 http://www.informatics.jax.org/searchtool/Search.do?query=PIK3C2A&submit=Quick%0D%557ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3C2A 22_57.194_74.694 Chr22:45430165-51215481 0.519 PIM3 ENSG00000198355 Pim-3 proto-oncogene, serine/threonine kinase chr22:50354161-50357728 The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012] Homozygous null mice are healthy and fertile and do not display any gross abnormalities. GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0016310;phosphorylation;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0046777;protein autophosphorylation;IBA|GO:0061179;negative regulation of insulin secretion involved in cellular response to glucose stimulus;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PIM3 https://www.ncbi.nlm.nih.gov/omim/?term=610580 http://www.informatics.jax.org/searchtool/Search.do?query=PIM3&submit=Quick%0D%16876ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIM3 19_20.212_38.212 Chr19:6565245-15124834 0.429 PIN1 ENSG00000127445 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 chr19:9945933-9960358 Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimer's disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011] Alzheimer's disease; Alzheimer's disease ; chronic obstructive pulmonary disease; Alzheimer's Disease; breast cancer; lung cancer; Carcinoma, Squamous Cell|Head and Neck Neoplasms; lung cancer ; bladder cancer Homozygotes exhibit cell-proliferation abnormalities, including a late-developing reduction in body weight and progressive testicular and retinal atrophies. Mutant females fail to undergo mammary epithelial duct expansion associated with pregnancy. Negative regulators of DDX58/IFIH1 signaling GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0001934;positive regulation of protein phosphorylation;IGI|GO:0007049;cell cycle;IEA|GO:0007088;regulation of mitotic nuclear division;TAS|GO:0030182;neuron differentiation;ISS|GO:0030512;negative regulation of transforming growth factor beta receptor signaling pathway;IDA|GO:0032091;negative regulation of protein binding;IDA|GO:0032465;regulation of cytokinesis;IGI|GO:0032480;negative regulation of type I interferon production;TAS|GO:0035307;positive regulation of protein dephosphorylation;IEA|GO:0042177;negative regulation of protein catabolic process;IDA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050808;synapse organization;ISS|GO:0050821;protein stabilization;IDA|GO:0051443;positive regulation of ubiquitin-protein transferase activity;IDA|GO:0060393;regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0061051;positive regulation of cell growth involved in cardiac muscle cell development;IEA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IDA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IDA|GO:1900180;regulation of protein localization to nucleus;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS|GO:2000146;negative regulation of cell motility;IDA GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;IEA|GO:0016607;nuclear speck;IEA|GO:0030496;midbody;IDA|GO:0043005;neuron projection;IEA GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0003774;motor activity;ISS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016853;isomerase activity;IEA|GO:0031434;mitogen-activated protein kinase kinase binding;IPI|GO:0032794;GTPase activating protein binding;IPI|GO:0050815;phosphoserine binding;IDA|GO:0050816;phosphothreonine binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PIN1 https://www.uniprot.org/uniprot/Q13526 https://www.ncbi.nlm.nih.gov/omim/?term=601052 http://www.informatics.jax.org/searchtool/Search.do?query=PIN1&submit=Quick%0D%6036ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PIN1 16_101.974_110.974 Chr16:79461830-82833302 0.225 PKD1L2 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) chr16:81134480-81253975 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Attention deficit hyperactivity disorder and conduct disorder; HIV Infections|[X]Human immunodeficiency virus disease; beta Carotene; Diabetic Nephropathies; high-density lipoprotein cholesterol ; smoking cessation; E-Selectin; Attention Deficit and Disruptive Behavior Disorders GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKD1L2 https://www.ncbi.nlm.nih.gov/omim/?term=607894 http://www.informatics.jax.org/searchtool/Search.do?query=PKD1L2&submit=Quick%0D%11802ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD1L2 22_57.194_74.694 Chr22:45430165-51215481 0.519 PKDREJ ENSG00000130943 polycystin family receptor for egg jelly chr22:46651560-46659219 This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008] Homozygous null males are fertile in unrestricted mating trials but show lower reproductive success in sequential mating and artificial insemination trials. Although mutant sperm are able to capacitate in vitro, they acquire exocytotic competence at a slower rate than wild-type sperm. GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0007340;acrosome reaction;TAS|GO:0050982;detection of mechanical stimulus;IBA|GO:0070588;calcium ion transmembrane transport;IEA GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA GO:0005262;calcium channel activity;IBA|GO:0005509;calcium ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKDREJ https://www.uniprot.org/uniprot/Q9NTG1 https://www.ncbi.nlm.nih.gov/omim/?term=604670 http://www.informatics.jax.org/searchtool/Search.do?query=PKDREJ&submit=Quick%0D%6466ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKDREJ 20_50.701_78.701 Chr20:25016495-51804476 1.1 PKIG ENSG00000168734 cAMP-dependent protein kinase inhibitor gamma chr20:43160426-43252888 This gene encodes a member of the protein kinase inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive cAMP-dependent protein kinase inhibitor, and is a predominant form of inhibitor in various tissues. The encoded protein may be involved in osteogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Type 2 Diabetes| edema | rosiglitazone GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0007165;signal transduction;IEA|GO:0016310;phosphorylation;IEA|GO:0042308;negative regulation of protein import into nucleus;IEA|GO:0071901;negative regulation of protein serine/threonine kinase activity;IEA|GO:2000480;negative regulation of cAMP-dependent protein kinase activity;IBA GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA GO:0004860;protein kinase inhibitor activity;IEA|GO:0004862;cAMP-dependent protein kinase inhibitor activity;TAS|GO:0016301;kinase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PKIG https://www.ncbi.nlm.nih.gov/omim/?term=604932 http://www.informatics.jax.org/searchtool/Search.do?query=PKIG&submit=Quick%0D%12330ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKIG 19_20.212_38.212 Chr19:6565245-15124834 0.429 PKN1 ENSG00000123143 protein kinase N1 chr19:14543865-14582679 The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Homozygotes for a null allele show spontaneous germinal center formation and autoantibody production and develop glomerulonephritis. Homozygotes for a different null allele have mild systolic and diastolic dysfunction, and show increased myocardial infarction size after ischemia-reperfusion injury. Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 GO:0001782;B cell homeostasis;IEA|GO:0001783;B cell apoptotic process;IEA|GO:0001933;negative regulation of protein phosphorylation;IEA|GO:0002634;regulation of germinal center formation;IEA|GO:0002637;regulation of immunoglobulin production;IEA|GO:0003014;renal system process;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0006468;protein phosphorylation;TAS|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006972;hyperosmotic response;IEA|GO:0007165;signal transduction;TAS|GO:0007257;activation of JUN kinase activity;TAS|GO:0010631;epithelial cell migration;IMP|GO:0016310;phosphorylation;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0030889;negative regulation of B cell proliferation;IEA|GO:0035407;histone H3-T11 phosphorylation;IDA|GO:0048536;spleen development;IEA|GO:2000145;regulation of cell motility;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005768;endosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;IDA|GO:0043234;protein complex;IEA GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IDA|GO:0004672;protein kinase activity;TAS|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004697;protein kinase C activity;IEA|GO:0005080;protein kinase C binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017049;GTP-Rho binding;IDA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA|GO:0035402;histone kinase activity (H3-T11 specific);IDA|GO:0042393;histone binding;IDA|GO:0042826;histone deacetylase binding;IDA|GO:0048365;Rac GTPase binding;IDA|GO:0050681;androgen receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PKN1 https://www.uniprot.org/uniprot/Q16512 https://www.ncbi.nlm.nih.gov/omim/?term=601032 http://www.informatics.jax.org/searchtool/Search.do?query=PKN1&submit=Quick%0D%5491ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PKN1 20_50.701_78.701 Chr20:25016495-51804476 1.1 PLAGL2 ENSG00000126003 PLAG1 like zinc finger 2 chr20:30780306-30795594 Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mice homozygous for a null allele exhibit postnatal death due to a failure to absorb lipids in the intestine and other organs. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006629;lipid metabolic process;IEA|GO:0009791;post-embryonic development;IEA|GO:0034378;chylomicron assembly;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;IEA GO:0005634;nucleus;IEA GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0043565;sequence-specific DNA binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLAGL2 https://www.uniprot.org/uniprot/Q9UPG8 https://www.ncbi.nlm.nih.gov/omim/?term=604866 http://www.informatics.jax.org/searchtool/Search.do?query=PLAGL2&submit=Quick%0D%5900ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLAGL2 20_50.701_78.701 Chr20:25016495-51804476 1.1 PLCG1 ENSG00000124181 phospholipase C gamma 1 chr20:39765600-39811629 The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] HIV; bipolar disorder; several psychiatric disorders; multiple sclerosis; Chronic renal failure|Kidney Failure, Chronic; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with arrested growth and/or abnormal hematopoiesis. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0000186;activation of MAPKK activity;TAS|GO:0001701;in utero embryonic development;IEA|GO:0006629;lipid metabolic process;IEA|GO:0007165;signal transduction;TAS|GO:0007173;epidermal growth factor receptor signaling pathway;IMP|GO:0007411;axon guidance;TAS|GO:0009395;phospholipid catabolic process;IEA|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0016032;viral process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016477;cell migration;IMP|GO:0019722;calcium-mediated signaling;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043536;positive regulation of blood vessel endothelial cell migration;IDA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0045766;positive regulation of angiogenesis;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0050900;leukocyte migration;TAS|GO:0051281;positive regulation of release of sequestered calcium ion into cytosol;IMP|GO:0071364;cellular response to epidermal growth factor stimulus;IMP GO:0001726;ruffle;IDA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA|GO:0008180;COP9 signalosome;IDA|GO:0030027;lamellipodium;IDA|GO:0042995;cell projection;IDA GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005057;signal transducer activity, downstream of receptor;NAS|GO:0005168;neurotrophin TRKA receptor binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0030971;receptor tyrosine kinase binding;IEA|GO:0035254;glutamate receptor binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG1 https://www.uniprot.org/uniprot/P19174 https://www.ncbi.nlm.nih.gov/omim/?term=172420 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG1&submit=Quick%0D%5607ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG1 16_101.974_110.974 Chr16:79461830-82833302 0.225 PLCG2 ENSG00000197943 phospholipase C gamma 2 chr16:81772702-81991899 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] Arteries; Bipolar Disorder; Hypertrophy, Left Ventricular; several psychiatric disorders; Tobacco Use Disorder; HIV; Stroke; breast cancer; Myocardial Infarction Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0002092;positive regulation of receptor internalization;IEA|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002316;follicular B cell differentiation;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;IDA|GO:0007165;signal transduction;IEA|GO:0009395;phospholipid catabolic process;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016042;lipid catabolic process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0019722;calcium-mediated signaling;NAS|GO:0030168;platelet activation;TAS|GO:0030183;B cell differentiation;IEA|GO:0032237;activation of store-operated calcium channel activity;IEA|GO:0032481;positive regulation of type I interferon production;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0032959;inositol trisphosphate biosynthetic process;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0043069;negative regulation of programmed cell death;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051209;release of sequestered calcium ion into cytosol;IDA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0001784;phosphotyrosine binding;IPI|GO:0004435;phosphatidylinositol phospholipase C activity;IEA|GO:0004629;phospholipase C activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLCG2 https://hpo.jax.org/app/browse/search?q=PLCG2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=600220 http://www.informatics.jax.org/searchtool/Search.do?query=PLCG2&submit=Quick%0D%16762ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCG2 11_21.322_43.322 Chr11:11392976-25199292 1.269 PLEKHA7 ENSG00000166689 pleckstrin homology domain containing A7 chr11:16799842-17035990 systolic blood pressure; Cholesterol, LDL; Blood Pressure; Diastolic blood pressure; Tobacco Use Disorder; Prostatic Neoplasms; Cholesterol; hypertension Mice homozygous for a null allele show decreased susceptibility to bacterial infection. GO:0045218;zonula adherens maintenance;IMP|GO:0090136;epithelial cell-cell adhesion;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005912;adherens junction;IEA|GO:0005915;zonula adherens;IDA|GO:0030054;cell junction;IDA|GO:0070062;extracellular exosome;IDA GO:0070097;delta-catenin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PLEKHA7 https://www.ncbi.nlm.nih.gov/omim/?term=612686 http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHA7&submit=Quick%0D%11847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHA7 20_50.701_78.701 Chr20:25016495-51804476 1.1 PLTP ENSG00000100979 phospholipid transfer protein chr20:44527399-44540794 The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] HDL cholesterol; Hyperlipoproteinemias; Alzheimer's disease; plasma HDL cholesterol (HDL-C) levels; cholesterol, HDL cholesterol, LDL; Triglycerides; Hyperlipidemias; cholesterol, HDL; hypoalphalipoproteinemia; triglyceride; null; Type 2 diabetes; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Type 2 Diabetes| edema | rosiglitazone; dementia; Lipoproteins, HDL; atherosclerosis; Lipid Metabolism; triglycerides; Cholesterol, HDL; obesity; Dyslipidemias|Syndrome Mice homozygous for disruptions in this gene have lower levels of circulating HDL and exhibit symptoms of dry eye syndrome such as corneal epithelial damage. HDL remodeling GO:0006629;lipid metabolic process;TAS|GO:0006810;transport;IEA|GO:0006869;lipid transport;IEA|GO:0010189;vitamin E biosynthetic process;IEA|GO:0010875;positive regulation of cholesterol efflux;IDA|GO:0030317;flagellated sperm motility;IEA|GO:0034375;high-density lipoprotein particle remodeling;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLTP https://www.uniprot.org/uniprot/P55058 https://www.ncbi.nlm.nih.gov/omim/?term=172425 http://www.informatics.jax.org/searchtool/Search.do?query=PLTP&submit=Quick%0D%2628ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLTP 22_57.194_74.694 Chr22:45430165-51215481 0.519 PLXNB2 ENSG00000196576 plexin B2 chr22:50713408-50746056 Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008] Homozygotes for a targeted mutation of this gene die perinatally of exencephaly or survive and seem normal despite severe abnormalities in cerebellar layering and foliation; the external granule cell layer is disorganized due to continued proliferation and migration of differentiated granule cells. GO:0001843;neural tube closure;IEA|GO:0001932;regulation of protein phosphorylation;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007162;negative regulation of cell adhesion;IBA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IEA|GO:0007405;neuroblast proliferation;IEA|GO:0007420;brain development;IEA|GO:0008360;regulation of cell shape;IEA|GO:0010976;positive regulation of neuron projection development;IDA|GO:0043087;regulation of GTPase activity;IEA|GO:0050772;positive regulation of axonogenesis;IEA|GO:0071526;semaphorin-plexin signaling pathway;IEA|GO:2001222;regulation of neuron migration;IEA GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0017154;semaphorin receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PLXNB2 https://www.ncbi.nlm.nih.gov/omim/?term=604293 http://www.informatics.jax.org/searchtool/Search.do?query=PLXNB2&submit=Quick%0D%16406ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PLXNB2 19_20.212_38.212 Chr19:6565245-15124834 0.429 PNPLA6 ENSG00000032444 patatin like phospholipase domain containing 6 chr19:7598890-7626650 This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] drug-related genes Homozygous mutation of this gene results in embryonic lethality during early gestation. Conditional inactivation in the central nervous system leads to neurodegeneration. Glycerophospholipid catabolism GO:0006629;lipid metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0032502;developmental process;IBA|GO:0046470;phosphatidylcholine metabolic process;IEA|GO:0046475;glycerophospholipid catabolic process;TAS GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0004622;lysophospholipase activity;EXP|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PNPLA6 https://www.uniprot.org/uniprot/Q8IY17 https://hpo.jax.org/app/browse/search?q=PNPLA6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603197 http://www.informatics.jax.org/searchtool/Search.do?query=PNPLA6&submit=Quick%0D%748ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PNPLA6 12_78.016_106.016 Chr12:64973018-92996828 1.299 POC1B ENSG00000139323 POC1 centriolar protein B chr12:89813495-89919801 POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Pancreatic Neoplasms; Tobacco Use Disorder GO:0001895;retina homeostasis;IMP|GO:0008283;cell proliferation;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP GO:0000922;spindle pole;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IDA|GO:0005856;cytoskeleton;IEA|GO:0036064;ciliary basal body;IDA|GO:0042995;cell projection;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/POC1B https://www.uniprot.org/uniprot/Q8TC44 https://hpo.jax.org/app/browse/search?q=POC1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=614784 http://www.informatics.jax.org/searchtool/Search.do?query=POC1B&submit=Quick%0D%7870ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POC1B 12_78.016_106.016 Chr12:64973018-92996828 1.299 POC1B-GALNT4 ENSG00000259075 POC1B-GALNT4 readthrough chr12:89913185-89920039 This locus represents naturally occurring transcripts that splice the 5' exons of the POC1B (POC1 centriolar protein homolog B) gene on chromosome 12 to the GALNT4 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4) gene, which is located within a POC1B intron. Alternative splicing results in two transcript variants, one of which encodes a fusion isoform that shares sequence identity with the products of each individual gene. [provided by RefSeq, Dec 2010] GO:0006486;protein glycosylation;IEA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030246;carbohydrate binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/POC1B-GALNT4 http://www.informatics.jax.org/searchtool/Search.do?query=POC1B-GALNT4&submit=Quick%0D%20321ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POC1B-GALNT4 19_20.212_38.212 Chr19:6565245-15124834 0.429 PODNL1 ENSG00000132000 podocan like 1 chr19:14042000-14064204 GO:0006469;negative regulation of protein kinase activity;IBA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0046426;negative regulation of JAK-STAT cascade;IBA GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005737;cytoplasm;IBA|GO:0031012;extracellular matrix;IEA GO:0004860;protein kinase inhibitor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PODNL1 https://www.uniprot.org/uniprot/Q6PEZ8 http://www.informatics.jax.org/searchtool/Search.do?query=PODNL1&submit=Quick%0D%6613ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PODNL1 20_50.701_78.701 Chr20:25016495-51804476 1.1 POFUT1 ENSG00000101346 protein O-fucosyltransferase 1 chr20:30795683-30826470 This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Homozygous mutant mice die by midgestation displaying malformations of the somites, vasculature, heart, and nervous system. Pre-NOTCH Processing in the Endoplasmic Reticulum GO:0001525;angiogenesis;IEA|GO:0001756;somitogenesis;IEA|GO:0005975;carbohydrate metabolic process;IEA|GO:0006004;fucose metabolic process;IEA|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006486;protein glycosylation;IEA|GO:0006493;protein O-linked glycosylation;IDA|GO:0007219;Notch signaling pathway;IEA|GO:0007399;nervous system development;IEA|GO:0007507;heart development;IEA|GO:0009790;embryo development;NAS|GO:0016266;O-glycan processing;TAS|GO:0036066;protein O-linked fucosylation;IDA GO:0005783;endoplasmic reticulum;IEA|GO:0016020;membrane;IDA GO:0008417;fucosyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0046922;peptide-O-fucosyltransferase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/POFUT1 https://www.uniprot.org/uniprot/Q9H488 https://hpo.jax.org/app/browse/search?q=POFUT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607491 http://www.informatics.jax.org/searchtool/Search.do?query=POFUT1&submit=Quick%0D%2716ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=POFUT1 19_20.212_38.212 Chr19:6565245-15124834 0.429 PPAN ENSG00000130810 peter pan homolog (Drosophila) chr19:10216965-10225414 The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010] GO:0000027;ribosomal large subunit assembly;IBA GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0030687;preribosome, large subunit precursor;IBA GO:0003723;RNA binding;IDA|GO:0019843;rRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/PPAN https://www.uniprot.org/uniprot/Q9NQ55 https://www.ncbi.nlm.nih.gov/omim/?term=607793 http://www.informatics.jax.org/searchtool/Search.do?query=PPAN&submit=Quick%0D%6448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPAN 19_20.212_38.212 Chr19:6565245-15124834 0.429 PPAN-P2RY11 ENSG00000243207 PPAN-P2RY11 readthrough chr19:10216899-10225456 This locus represents naturally occurring read-through transcription between the adjacent PPAN and P2RY11 genes. Alternative splicing results in two transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This transcript is found to be ubiquitously expressed and is up-regulated by agents inducing granulocytic differentiation. However, its functional significance in vivo remains unclear. [provided by RefSeq, Nov 2010] GO:0000027;ribosomal large subunit assembly;IBA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030687;preribosome, large subunit precursor;IBA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0019843;rRNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/PPAN-P2RY11 http://www.informatics.jax.org/searchtool/Search.do?query=PPAN-P2RY11&submit=Quick%0D%19763ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPAN-P2RY11 22_57.194_74.694 Chr22:45430165-51215481 0.519 PPARA ENSG00000186951 peroxisome proliferator activated receptor alpha chr22:46546424-46639653 Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008] cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides; breast cancer ; plasma HDL cholesterol (HDL-C) levels; BMI- Edema rosiglitazone or pioglitazone; Alzheimer's Disease; Glomerulonephritis, IGA; cholesterol, HDL; triglycerides; cholesterol, total; Cardiovascular; elite runners; coronary artery disease; coronary atherosclerosis; Bone Mineral Density; muscle testing; fibrinogen; triglyceride; hypertension; Insulin Resistance; Alzheimer's disease ; Hepatopulmonary Syndrome|Liver Cirrhosis; longevity; Fatty Liver; cholesterol, HDL; triglycerides; diabetes, type 2; cholesterol, LDL; plasma total and LDL-apolipoprotein B; Coronary Restenosis|Coronary Stenosis; cholesterol, HDL; heart disease, ischemic; diabetes, type 2; insulin; lower body mass index; atherosclerosis, coronary; diabetes, type 2; liver steatosis, Hepatitis C virus-related; steatohepatitis, nonalcoholic; esophageal cancer ; Altitude Sickness; Plasma Lipid Levels; hypertension; glucose tolerance; insulin; hematology indices; Brain Ischemia|Dementia|Myocardial Infarction; lung cancer; triglycerides; atherosclerosis, coronary; lipoprotein; Coronary Artery Disease; hyperlipidemia; cholesterol; triglycerides; Ventricular Dysfunction, Left; hypertriglyceridemia; aging; psoriasis; cholesterol, LDL; cholesterol, total; apolipoproteins; triglycerides; insulin; lipoproteins; apoB; apoC-III; prostate cancer; obesity; cholesterol gamma glutamyltranspeptidase triglycerides; Chronic renal failure|Kidney Failure, Chronic; atherosclerosis; polycystic ovary syndrome; triglycerides; lipoproteins; Myocardial Infarction; Hypercholesterolemia|LDLC levels; physical performance; Cardiovascular Diseases; triglycerides; insulin; glucose; Hypertension; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; cholesterol; triacylglycerol; hypertension; exercise; Multiple Sclerosis; alcohol; Alzheimer's disease; Type 2 Diabetes| edema | rosiglitazone; myocardial infarct; Hyperglycemia|Metabolic Syndrome X; elite endurance; plasma HDL-C levels; atherosclerosis, coronary hyperlipidemia; Acute Coronary Syndrome; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Tobacco Use Disorder; cholesterol; cholesterol, LDL; lipoproteins; fatty acid; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; serum lipid levels; cardiac growth; edema; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Fatty Liver|Obesity; heart disease, ischemic; diabetes, type 2 dyslipidemia obesity; left ventricular growth; Atherosclerosis; Coronary Disease|Coronary heart disease|Diabetic Cardiomyopathies|Myocardial ischemia; Coronary Heart Disease; left ventricular hypertrophy; Atherosclerosis|Thrombosis; diabetes, type 2; hyperlipidemia; obesity; atherosclerosis, coronary; diabetes, type 2; lipoprotein; metabolic syndrome; body mass; Wegeners Granulomatosis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; insulin; blood pressure, arterial; Obesity; coronary heart disease; diabetes, type 2; null; Type II diabetic Homozygotes for a targeted null mutation exhibit loss of diurnal variation in hepatic fatty acid and cholesterol synthesis, increased hepatic lipid and gonadal adipose stores, impaired skin wound healing, and altered metabolic responses to starvation. RUNX3 regulates YAP1-mediated transcription GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001666;response to hypoxia;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006629;lipid metabolic process;TAS|GO:0006631;fatty acid metabolic process;TAS|GO:0007507;heart development;IEA|GO:0008544;epidermis development;IEA|GO:0010468;regulation of gene expression;IEA|GO:0010745;negative regulation of macrophage derived foam cell differentiation;IC|GO:0010871;negative regulation of receptor biosynthetic process;IDA|GO:0010887;negative regulation of cholesterol storage;IDA|GO:0010891;negative regulation of sequestering of triglyceride;IDA|GO:0015908;fatty acid transport;TAS|GO:0019216;regulation of lipid metabolic process;TAS|GO:0019217;regulation of fatty acid metabolic process;IEA|GO:0030522;intracellular receptor signaling pathway;IEA|GO:0032000;positive regulation of fatty acid beta-oxidation;TAS|GO:0032091;negative regulation of protein binding;IEA|GO:0032099;negative regulation of appetite;ISS|GO:0032868;response to insulin;IEA|GO:0032922;circadian regulation of gene expression;ISS|GO:0035095;behavioral response to nicotine;IEA|GO:0042060;wound healing;IEA|GO:0042157;lipoprotein metabolic process;IEA|GO:0042752;regulation of circadian rhythm;ISS|GO:0043401;steroid hormone mediated signaling pathway;IEA|GO:0045722;positive regulation of gluconeogenesis;IEA|GO:0045776;negative regulation of blood pressure;IEA|GO:0045820;negative regulation of glycolytic process;IC|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046321;positive regulation of fatty acid oxidation;ISS|GO:0048511;rhythmic process;IEA|GO:0050728;negative regulation of inflammatory response;IDA|GO:0070166;enamel mineralization;IEA|GO:0072363;regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0072366;regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0072369;regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter;IDA|GO:1901215;negative regulation of neuron death;IEA|GO:1902894;negative regulation of pri-miRNA transcription from RNA polymerase II promoter;IDA|GO:1903038;negative regulation of leukocyte cell-cell adhesion;IDA|GO:2000678;negative regulation of transcription regulatory region DNA binding;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0001223;transcription coactivator binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003707;steroid hormone receptor activity;IDA|GO:0004872;receptor activity;IEA|GO:0004879;RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008144;drug binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0008289;lipid binding;IDA|GO:0019902;phosphatase binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IPI|GO:0032403;protein complex binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051525;NFAT protein binding;IEA|GO:0097371;MDM2/MDM4 family protein binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PPARA https://www.ncbi.nlm.nih.gov/omim/?term=170998 http://www.informatics.jax.org/searchtool/Search.do?query=PPARA&submit=Quick%0D%15744ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPARA 12_78.016_106.016 Chr12:64973018-92996828 1.299 PPFIA2 ENSG00000139220 PTPRF interacting protein alpha 2 chr12:81652045-82153332 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Aorta; Respiratory Function Tests; Asthma; Hip; Sodium; Tobacco Use Disorder; Triglycerides; Diabetes Mellitus Receptor-type tyrosine-protein phosphatases GO:0007160;cell-matrix adhesion;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0014047;glutamate secretion;TAS GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0009986;cell surface;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPFIA2 https://www.uniprot.org/uniprot/O75334 https://www.ncbi.nlm.nih.gov/omim/?term=603143 http://www.informatics.jax.org/searchtool/Search.do?query=PPFIA2&submit=Quick%0D%7857ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPFIA2 12_78.016_106.016 Chr12:64973018-92996828 1.299 PPP1R12A ENSG00000058272 protein phosphatase 1 regulatory subunit 12A chr12:80167343-80329240 Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] Body Weights and Measures; lung cancer; Tobacco Use Disorder Homozygous null mice die before E7.5. Mice homozygous for a floxed allele activated in smooth muscle exhibit altered intestinal smooth muscle contractility. RHO GTPases activate PAKs GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;IMP|GO:0006470;protein dephosphorylation;IMP|GO:0007098;centrosome cycle;IMP|GO:0007165;signal transduction;IEA|GO:0030155;regulation of cell adhesion;IDA|GO:0035507;regulation of myosin-light-chain-phosphatase activity;IDA|GO:0035508;positive regulation of myosin-light-chain-phosphatase activity;IMP|GO:0035690;cellular response to drug;IEA|GO:0043086;negative regulation of catalytic activity;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046822;regulation of nucleocytoplasmic transport;IEA|GO:0050790;regulation of catalytic activity;IEA GO:0000776;kinetochore;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0030018;Z disc;IEA|GO:0031672;A band;IEA|GO:0043292;contractile fiber;IDA|GO:0072357;PTW/PP1 phosphatase complex;IDA GO:0004857;enzyme inhibitor activity;IDA|GO:0004871;signal transducer activity;NAS|GO:0005515;protein binding;IPI|GO:0019208;phosphatase regulator activity;IDA|GO:0019901;protein kinase binding;IPI|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R12A https://www.uniprot.org/uniprot/O14974 https://www.ncbi.nlm.nih.gov/omim/?term=602021 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R12A&submit=Quick%0D%1032ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R12A 20_50.701_78.701 Chr20:25016495-51804476 1.1 PPP1R16B ENSG00000101445 protein phosphatase 1 regulatory subunit 16B chr20:37434348-37551667 The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015] Pulse Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no detectable defects in thymopoiesis. GO:0001938;positive regulation of endothelial cell proliferation;IMP|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;IMP|GO:0035304;regulation of protein dephosphorylation;IMP|GO:0035307;positive regulation of protein dephosphorylation;IDA|GO:0035308;negative regulation of protein dephosphorylation;IDA|GO:0050790;regulation of catalytic activity;IEA|GO:0051489;regulation of filopodium assembly;ISS|GO:0061028;establishment of endothelial barrier;IMP|GO:1902309;negative regulation of peptidyl-serine dephosphorylation;IMP|GO:1903589;positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis;IMP GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IDA|GO:0042995;cell projection;IDA|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005515;protein binding;IPI|GO:0019888;protein phosphatase regulator activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/PPP1R16B https://www.uniprot.org/uniprot/Q96T49 https://www.ncbi.nlm.nih.gov/omim/?term=613275 http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R16B&submit=Quick%0D%2743ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R16B 22_57.194_74.694 Chr22:45430165-51215481 0.519 PPP6R2 ENSG00000100239 protein phosphatase 6 regulatory subunit 2 chr22:50781733-50883514 Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PPP6R2 https://www.uniprot.org/uniprot/O75170 https://www.ncbi.nlm.nih.gov/omim/?term=610877 http://www.informatics.jax.org/searchtool/Search.do?query=PPP6R2&submit=Quick%0D%2444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP6R2 19_20.212_38.212 Chr19:6565245-15124834 0.429 PRAM1 ENSG00000133246 PML-RARA regulated adaptor molecule 1 chr19:8554940-8567996 The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expression of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). [provided by RefSeq, Jul 2008] height Homozygous null mice have neutrophils that exhibit decreased adhesion-dependent reactive oxygen intermediate production and degranulation. GO:0007165;signal transduction;IBA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0043313;regulation of neutrophil degranulation;IEA GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRAM1 https://www.uniprot.org/uniprot/Q96QH2 https://www.ncbi.nlm.nih.gov/omim/?term=606466 http://www.informatics.jax.org/searchtool/Search.do?query=PRAM1&submit=Quick%0D%6817ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAM1 1_27.421_30.421 Chr1:13285556-14610086 0.125 PRAMEF13 ENSG00000282741 PRAME family member 13 chr1:13447414-13452656 GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF13 http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF13&submit=Quick%0D%22595ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF13 1_27.421_30.421 Chr1:13285556-14610086 0.125 PRAMEF14 ENSG00000204481 PRAME family member 14 chr1:13668269-13673511 GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF14 http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF14&submit=Quick%0D%17313ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF14 1_27.421_30.421 Chr1:13285556-14610086 0.125 PRAMEF15 ENSG00000204501 PRAME family member 15 chr1:13641973-13648988 GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF15 http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF15&submit=Quick%0D%17318ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF15 1_27.421_30.421 Chr1:13285556-14610086 0.125 PRAMEF17 ENSG00000204479 PRAME family member 17 chr1:13716092-13719089 Hippocampus GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF17 http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF17&submit=Quick%0D%17311ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF17 1_27.421_30.421 Chr1:13285556-14610086 0.125 PRAMEF18 ENSG00000282212 PRAME family member 18 chr1:13474689-13477522 GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF18 http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF18&submit=Quick%0D%22437ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF18 1_27.421_30.421 Chr1:13285556-14610086 0.125 PRAMEF19 ENSG00000204480 PRAME family member 19 chr1:13694889-13698405 GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF19 http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF19&submit=Quick%0D%17312ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF19 1_27.421_30.421 Chr1:13285556-14610086 0.125 PRAMEF20 ENSG00000204478 PRAME family member 20 chr1:13736907-13747803 GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF20 http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF20&submit=Quick%0D%17310ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF20 1_27.421_30.421 Chr1:13285556-14610086 0.125 PRAMEF5 ENSG00000283150 PRAME family member 5 chr1:13359819-13369057 GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF5 http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF5&submit=Quick%0D%22697ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF5 1_27.421_30.421 Chr1:13285556-14610086 0.125 PRAMEF8 ENSG00000283387 PRAME family member 8 chr1:13386646-13390765 GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF8 http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF8&submit=Quick%0D%22731ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF8 1_27.421_30.421 Chr1:13285556-14610086 0.125 PRAMEF9 ENSG00000283139 PRAME family member 9 chr1:13421176-13428191 GO:0008284;positive regulation of cell proliferation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRAMEF9 http://www.informatics.jax.org/searchtool/Search.do?query=PRAMEF9&submit=Quick%0D%22694ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAMEF9 1_27.421_30.421 Chr1:13285556-14610086 0.125 PRDM2 ENSG00000116731 PR/SET domain 2 chr1:14026693-14151574 This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] colorectal cancer; Cholesterol, HDL; breast cancer; overall effect; lung cancer; Heart Rate; Parkinson Disease; Echocardiography; epithelial ovarian cancer ; Respiratory Function Tests; Marijuana Abuse|Psychoses, Substance-Induced; Fractures, Bone|Osteoporosis|Osteoporosis, Postmenopausal; Alzheimer's disease ; Bone Mineral Density; Body Mass Index; Fibrinogen; Breath Tests Homozygous null mice have shortened life spans, becoming moribund due to increased incidence of tumors. Mice had a broad spectrum of unusual tumors in multiple organs, with a high incidence of diffuse large B cell lymphomas. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0008340;determination of adult lifespan;IEA|GO:0032259;methylation;IEA|GO:0034968;histone lysine methylation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0005634;nucleus;IDA|GO:0005794;Golgi apparatus;IDA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IMP|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IDA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0008168;methyltransferase activity;IEA|GO:0008270;zinc ion binding;NAS|GO:0016740;transferase activity;IEA|GO:0018024;histone-lysine N-methyltransferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRDM2 https://www.uniprot.org/uniprot/Q13029 https://www.ncbi.nlm.nih.gov/omim/?term=601196 http://www.informatics.jax.org/searchtool/Search.do?query=PRDM2&submit=Quick%0D%4780ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDM2 19_20.212_38.212 Chr19:6565245-15124834 0.429 PRDX2 ENSG00000167815 peroxiredoxin 2 chr19:12907634-12912694 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. [provided by RefSeq, Mar 2013] arsnic exposure; Aging/ Telomere Length; cognitive trait; arsenic Homozygous null mice have hemolytic anemia and exhibit enlarged spleens due to congestion of the red pulp. Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models GO:0006979;response to oxidative stress;IMP|GO:0019430;removal of superoxide radicals;IEA|GO:0034599;cellular response to oxidative stress;TAS|GO:0042744;hydrogen peroxide catabolic process;TAS|GO:0042981;regulation of apoptotic process;IMP|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005623;cell;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA GO:0004601;peroxidase activity;IEA|GO:0008379;thioredoxin peroxidase activity;IEA|GO:0016209;antioxidant activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0051920;peroxiredoxin activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRDX2 https://www.ncbi.nlm.nih.gov/omim/?term=600538 http://www.informatics.jax.org/searchtool/Search.do?query=PRDX2&submit=Quick%0D%12125ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRDX2 20_50.701_78.701 Chr20:25016495-51804476 1.1 PREX1 ENSG00000124126 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 chr20:47240790-47444420 The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008] tonometry; coronary spastic angina; BMI; Blood Pressure; diabetes, type 2; Tobacco Use Disorder Mice homozygous for a null allele have impaired neutrophil migration and autism-like social behavior with defective AMPA-mediated LTD. Mice with other alleles exhibit reduced weight, smaller livers and increased peripheral neutrophil numbers. G alpha (12/13) signalling events GO:0006469;negative regulation of protein kinase activity;IBA|GO:0006801;superoxide metabolic process;TAS|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0030041;actin filament polymerization;TAS|GO:0030217;T cell differentiation;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030593;neutrophil chemotaxis;IEA|GO:0030833;regulation of actin filament polymerization;IEA|GO:0032007;negative regulation of TOR signaling;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0042119;neutrophil activation;TAS|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0050773;regulation of dendrite development;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0072593;reactive oxygen species metabolic process;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030426;growth cone;IEA|GO:0043198;dendritic shaft;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005089;Rho guanyl-nucleotide exchange factor activity;TAS|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA|GO:0019899;enzyme binding;TAS|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PREX1 https://www.uniprot.org/uniprot/Q8TCU6 https://www.ncbi.nlm.nih.gov/omim/?term=606905 http://www.informatics.jax.org/searchtool/Search.do?query=PREX1&submit=Quick%0D%5593ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PREX1 19_20.212_38.212 Chr19:6565245-15124834 0.429 PRKACA ENSG00000072062 protein kinase cAMP-activated catalytic subunit alpha chr19:14202500-14228896 This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. cAMP-dependent phosphorylation of proteins by protein kinase A is important to many cellular processes, including differentiation, proliferation, and apoptosis. Constitutive activation of this gene caused either by somatic mutations, or genomic duplications of regions that include this gene, have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushing's syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. Tissue-specific isoforms that differ at the N-terminus have been described, and these isoforms may differ in the post-translational modifications that occur at the N-terminus of some isoforms. [provided by RefSeq, Jan 2015] plasma HDL cholesterol (HDL-C) levels Homozygous mutant mice are highly susceptible to perinatal lethality. Surviving mice are runted and while spermatogenesis progresses normally, mature sperm shows impaired motility. Factors involved in megakaryocyte development and platelet production GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0001707;mesoderm formation;IEA|GO:0001843;neural tube closure;IEA|GO:0002027;regulation of heart rate;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0003091;renal water homeostasis;TAS|GO:0006397;mRNA processing;IDA|GO:0006468;protein phosphorylation;NAS|GO:0007596;blood coagulation;TAS|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;TAS|GO:0016241;regulation of macroautophagy;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IEA|GO:0034199;activation of protein kinase A activity;TAS|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:0034605;cellular response to heat;IDA|GO:0035584;calcium-mediated signaling using intracellular calcium source;TAS|GO:0043393;regulation of protein binding;TAS|GO:0045667;regulation of osteoblast differentiation;IDA|GO:0046777;protein autophosphorylation;IEA|GO:0046827;positive regulation of protein export from nucleus;IEA|GO:0048240;sperm capacitation;ISS|GO:0050804;modulation of synaptic transmission;IEA|GO:0051480;regulation of cytosolic calcium ion concentration;TAS|GO:0055117;regulation of cardiac muscle contraction;TAS|GO:0060314;regulation of ryanodine-sensitive calcium-release channel activity;TAS|GO:0061136;regulation of proteasomal protein catabolic process;IDA|GO:0070613;regulation of protein processing;IEA|GO:0071158;positive regulation of cell cycle arrest;ISS|GO:0071333;cellular response to glucose stimulus;IDA|GO:0071374;cellular response to parathyroid hormone stimulus;IEA|GO:0071377;cellular response to glucagon stimulus;TAS|GO:0071872;cellular response to epinephrine stimulus;TAS|GO:0086064;cell communication by electrical coupling involved in cardiac conduction;TAS|GO:0097711;ciliary basal body docking;TAS|GO:1901621;negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:1903779;regulation of cardiac conduction;TAS|GO:2000810;regulation of bicellular tight junction assembly;IDA GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005929;cilium;IEA|GO:0005952;cAMP-dependent protein kinase complex;NAS|GO:0016020;membrane;IEA|GO:0016607;nuclear speck;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031514;motile cilium;IEA|GO:0031594;neuromuscular junction;IEA|GO:0034704;calcium channel complex;TAS|GO:0036126;sperm flagellum;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0044853;plasma membrane raft;IDA|GO:0045171;intercellular bridge;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA|GO:0097546;ciliary base;TAS GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;EXP|GO:0004691;cAMP-dependent protein kinase activity;TAS|GO:0004712;protein serine/threonine/tyrosine kinase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IPI|GO:0019904;protein domain specific binding;IEA|GO:0030145;manganese ion binding;IEA|GO:0031625;ubiquitin protein ligase binding;IDA|GO:0034237;protein kinase A regulatory subunit binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRKACA https://www.uniprot.org/uniprot/P17612 https://hpo.jax.org/app/browse/search?q=PRKACA&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601639 http://www.informatics.jax.org/searchtool/Search.do?query=PRKACA&submit=Quick%0D%1416ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKACA 19_20.212_38.212 Chr19:6565245-15124834 0.429 PRKCSH ENSG00000130175 protein kinase C substrate 80K-H chr19:11546109-11561783 This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Asymptomatic Diseases|Cyst|Cysts|Liver Diseases; polycystic liver disease; liver disease, polycystic; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis. Mice homozygous for a conditional allele activated in the kidneys or ubiquitously develop polycystic kidney and liver phenotypes, respectively. Calnexin/calreticulin cycle GO:0001701;in utero embryonic development;IEA|GO:0001889;liver development;IEA|GO:0006457;protein folding;TAS|GO:0006491;N-glycan processing;IEA|GO:0006807;nitrogen compound metabolic process;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0035556;intracellular signal transduction;NAS|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0072001;renal system development;IEA GO:0005622;intracellular;NAS|GO:0005783;endoplasmic reticulum;IDA|GO:0005788;endoplasmic reticulum lumen;TAS GO:0003723;RNA binding;IEA|GO:0005080;protein kinase C binding;IPI|GO:0005509;calcium ion binding;IEA|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0051219;phosphoprotein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PRKCSH https://www.uniprot.org/uniprot/P14314 https://hpo.jax.org/app/browse/search?q=PRKCSH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=177060 http://www.informatics.jax.org/searchtool/Search.do?query=PRKCSH&submit=Quick%0D%6325ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRKCSH 11_21.322_43.322 Chr11:11392976-25199292 1.269 PRMT3 ENSG00000185238 protein arginine methyltransferase 3 chr11:20409076-20530840 This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts on 40S ribosomal protein S2 (rpS2), which is its major in-vivo substrate, and is involved in the proper maturation of the 80S ribosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Type 2 Diabetes| edema | rosiglitazone; Precursor Cell Lymphoblastic Leukemia-Lymphoma Mice homozygous for a hypomorphic gene trap allele exhibit a reduced embryonic size but survive birth and attain a normal size in adulthood. Protein methylation GO:0006479;protein methylation;TAS|GO:0031397;negative regulation of protein ubiquitination;IDA|GO:0032259;methylation;IEA|GO:0035246;peptidyl-arginine N-methylation;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003676;nucleic acid binding;IEA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IDA|GO:0016274;protein-arginine N-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PRMT3 https://www.ncbi.nlm.nih.gov/omim/?term=603190 http://www.informatics.jax.org/searchtool/Search.do?query=PRMT3&submit=Quick%0D%15371ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PRMT3 20_50.701_78.701 Chr20:25016495-51804476 1.1 PROCR ENSG00000101000 protein C receptor chr20:33759876-33765165 The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013] cerebrovascular disease, ischemic; myocardial infarct; atherosclerosis, coronary; Blood Coagulation Factors; Myocardial Infarction; Venous Thromboembolism; stroke; sepsis; Venous Thrombosis; pregnancy loss; fibrin fragment D; cardiovascular risk; thromboembolism, venous; protein C; Blood Coagulation Factor Inhibitors; null; thrombosis, venous; Cerebral Palsy; Anticoagulants; Cardiovascular Diseases|Coronary Disease|Inflammation|Stroke|Thrombosis; Chronic renal failure|Kidney Failure, Chronic; pregnancy loss, recurrent; Cerebral Palsy|; beta-thalassemia; fetal loss, late; thrombosis; Type 2 Diabetes| edema | rosiglitazone; thromboembolism, venous; thrombosis, deep vein; Pregnancy Complications, Hematologic|Venous Thrombosis; atherosclerosis, coronary; Hearing Loss, Sudden|Thrombosis; Protein C; unexplained foetal loss ; thrombophilia, venous; plasma coagulation factors Nullizygous embryos die by E10.5 showing placental thrombosis, small size, and incomplete turning. Mice with a severe deficiency survive and reproduce normally. Homozygotes for the R84A variant show increased thrombin formation after thrombotic and LPS challenge, splenomegaly, and bone marrow failure. Cell surface interactions at the vascular wall GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0050819;negative regulation of coagulation;IMP|GO:0050900;leukocyte migration;TAS GO:0005576;extracellular region;TAS|GO:0005813;centrosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005925;focal adhesion;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004872;receptor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PROCR https://www.uniprot.org/uniprot/Q9UNN8 https://www.ncbi.nlm.nih.gov/omim/?term=600646 http://www.informatics.jax.org/searchtool/Search.do?query=PROCR&submit=Quick%0D%2636ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PROCR 4_17.387_23.387 Chr4:7152608-8704080 0.68 PSAPL1 ENSG00000178597 prosaposin-like 1 (gene/pseudogene) chr4:7432022-7436700 This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015] GO:0006629;lipid metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IBA|GO:0019216;regulation of lipid metabolic process;IBA|GO:0043085;positive regulation of catalytic activity;IEA|GO:0060736;prostate gland growth;IBA|GO:0060742;epithelial cell differentiation involved in prostate gland development;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005737;cytoplasm;IBA|GO:0005764;lysosome;IEA|GO:0005829;cytosol;IDA GO:0001664;G-protein coupled receptor binding;IBA|GO:0008047;enzyme activator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/PSAPL1 http://www.informatics.jax.org/searchtool/Search.do?query=PSAPL1&submit=Quick%0D%14205ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSAPL1 11_21.322_43.322 Chr11:11392976-25199292 1.269 PSMA1 ENSG00000129084 proteasome subunit alpha 1 chr11:14515329-14541890 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009] Antigen processing: Ubiquitination & Proteasome degradation GO:0000165;MAPK cascade;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002376;immune system process;IEA|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006521;regulation of cellular amino acid metabolic process;TAS|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;TAS|GO:0016579;protein deubiquitination;TAS|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;TAS|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043687;post-translational protein modification;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051603;proteolysis involved in cellular protein catabolic process;IEA|GO:0055085;transmembrane transport;TAS|GO:0060071;Wnt signaling pathway, planar cell polarity pathway;TAS|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0090090;negative regulation of canonical Wnt signaling pathway;TAS|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS GO:0000502;proteasome complex;TAS|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005839;proteasome core complex;ISS|GO:0005844;polysome;TAS|GO:0019773;proteasome core complex, alpha-subunit complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;TAS|GO:0004175;endopeptidase activity;IEA|GO:0004298;threonine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PSMA1 https://www.uniprot.org/uniprot/P25786 https://www.ncbi.nlm.nih.gov/omim/?term=602854 http://www.informatics.jax.org/searchtool/Search.do?query=PSMA1&submit=Quick%0D%6213ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PSMA1 19_20.212_38.212 Chr19:6565245-15124834 0.429 PTGER1 ENSG00000160951 prostaglandin E receptor 1 chr19:14583278-14586174 The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008] Alzheimer's disease ; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Type 2 Diabetes| edema | rosiglitazone; epithelial ovarian cancer ; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; asthma asthma, aspirin-intolerant; patent ductus arteriosus; asthma Homozygous null mice may exhibit partial prenatal lethality, pain threshold abnormalities, behavioral disinhibition in response to stress, low blood pressure, defects in type IV hypersensitivity reactions, resistance to chemically induced tumors and impaired response to water deprivation. G alpha (q) signalling events GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0032496;response to lipopolysaccharide;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004955;prostaglandin receptor activity;IEA|GO:0004957;prostaglandin E receptor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/PTGER1 https://www.ncbi.nlm.nih.gov/omim/?term=176802 http://www.informatics.jax.org/searchtool/Search.do?query=PTGER1&submit=Quick%0D%10534ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTGER1 20_50.701_78.701 Chr20:25016495-51804476 1.1 PTGIS ENSG00000124212 prostaglandin I2 synthase chr20:48120411-48184683 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008] Myocardial Infarction; lung cancer ; Respiratory Syncytial Virus Infections|Respiratory Tract Infections; epithelial ovarian cancer ; hypertension; Ventricular Remodeling; cardiovascular; esophageal adenocarcinoma; Chronic renal failure|Kidney Failure, Chronic; Brain Ischemia|Myocardial Infarction|Stroke; cerebral infarction; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease ; Hepatopulmonary Syndrome|Liver Cirrhosis; metabolic syndrome; breast cancer ; pulmonary hypertension; Hypertension; colon polyps; patent ductus arteriosus; Kidney Failure, Chronic; myocardial infarction Homozygous mutation of this gene results in increased blood urea nitrogen and creatinine levels, thickening of the aorta with age, mildly increased blood pressure, and kidney abnormalities including cysts, fibrosis, necrosis, and renal vascular congestion. Synthesis of Prostaglandins (PG) and Thromboxanes (TX) GO:0001516;prostaglandin biosynthetic process;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006690;icosanoid metabolic process;TAS|GO:0006693;prostaglandin metabolic process;IEA|GO:0007566;embryo implantation;IEA|GO:0019371;cyclooxygenase pathway;TAS|GO:0032088;negative regulation of NF-kappaB transcription factor activity;IDA|GO:0034356;NAD biosynthesis via nicotinamide riboside salvage pathway;TAS|GO:0035360;positive regulation of peroxisome proliferator activated receptor signaling pathway;IDA|GO:0045019;negative regulation of nitric oxide biosynthetic process;IDA|GO:0045766;positive regulation of angiogenesis;IMP|GO:0046697;decidualization;IEA|GO:0050728;negative regulation of inflammatory response;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0071347;cellular response to interleukin-1;IEP|GO:0071354;cellular response to interleukin-6;IEP|GO:0071456;cellular response to hypoxia;IDA|GO:0097190;apoptotic signaling pathway;IDA|GO:1900119;positive regulation of execution phase of apoptosis;IDA GO:0005615;extracellular space;ISS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005901;caveola;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008116;prostaglandin-I synthase activity;TAS|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016853;isomerase activity;IEA|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTGIS https://www.uniprot.org/uniprot/Q16647 https://hpo.jax.org/app/browse/search?q=PTGIS&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601699 http://www.informatics.jax.org/searchtool/Search.do?query=PTGIS&submit=Quick%0D%5619ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTGIS 11_21.322_43.322 Chr11:11392976-25199292 1.269 PTH ENSG00000152266 parathyroid hormone chr11:13513602-13517728 This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Echocardiography; hyperparathyroidism; Type 2 Diabetes| edema | rosiglitazone; osteoporosis; calcium homeostasis and peripheral bone density ; Osteonecrosis|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Aortic Valve Stenosis|; bone density; lung cancer; adult height urinary pyridinoline excretion; Osteoporosis; chronic obstructive pulmonary disease; Alzheimer's disease ; bone density calcium phosphorus; Fractures, Bone|Osteoporosis; Hip Fractures|Osteoporosis, Postmenopausal; Bone Mineral Density; spinal ossification; Bone Density; cardiovascular mortality; spondylosis, lumbar; primary hyperparathyroidism; bladder cancer; lung cancer Homozygotes for a targeted null mutation exhibit diminished cartilage mineralization, and reductions in angiopoietin-1, neovascularization, metaphyseal osteoblasts, and trabecular bone. G alpha (s) signalling events GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;TAS|GO:0006874;cellular calcium ion homeostasis;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007202;activation of phospholipase C activity;IMP|GO:0007266;Rho protein signal transduction;IEA|GO:0007267;cell-cell signaling;TAS|GO:0008628;hormone-mediated apoptotic signaling pathway;TAS|GO:0009967;positive regulation of signal transduction;IEA|GO:0010288;response to lead ion;IEA|GO:0010468;regulation of gene expression;IDA|GO:0030501;positive regulation of bone mineralization;IDA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031667;response to nutrient levels;IEA|GO:0032331;negative regulation of chondrocyte differentiation;IEA|GO:0033280;response to vitamin D;IEA|GO:0034645;cellular macromolecule biosynthetic process;IDA|GO:0042493;response to drug;IEA|GO:0045453;bone resorption;NAS|GO:0045471;response to ethanol;IEA|GO:0045725;positive regulation of glycogen biosynthetic process;IDA|GO:0045778;positive regulation of ossification;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046058;cAMP metabolic process;TAS|GO:0046326;positive regulation of glucose import;IDA|GO:0046686;response to cadmium ion;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA|GO:0060732;positive regulation of inositol phosphate biosynthetic process;IMP|GO:0071107;response to parathyroid hormone;IEA|GO:0071774;response to fibroblast growth factor;IEA|GO:0071864;positive regulation of cell proliferation in bone marrow;IEA|GO:0071866;negative regulation of apoptotic process in bone marrow;IEA|GO:0090290;positive regulation of osteoclast proliferation;IEA|GO:1900158;negative regulation of bone mineralization involved in bone maturation;IEA|GO:2000273;positive regulation of receptor activity;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005623;cell;IEA GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;IMP|GO:0005179;hormone activity;IMP|GO:0031856;parathyroid hormone receptor binding;IEA|GO:0031857;type 1 parathyroid hormone receptor binding;IMP|GO:0047485;protein N-terminus binding;IMP|GO:0048018;receptor agonist activity;IMP|GO:0051428;peptide hormone receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/PTH https://www.uniprot.org/uniprot/P01270 https://hpo.jax.org/app/browse/search?q=PTH&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=168450 http://www.informatics.jax.org/searchtool/Search.do?query=PTH&submit=Quick%0D%9529ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTH 20_50.701_78.701 Chr20:25016495-51804476 1.1 PTPN1 ENSG00000196396 protein tyrosine phosphatase, non-receptor type 1 chr20:49126891-49201299 The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] glucose tolerance; insulin; Chronic renal failure|Kidney Failure, Chronic; plasma HDL cholesterol (HDL-C) levels; diabetes, type 2 obesity; Type 2 diabetes; ovarian cancer; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; Obesity; Kidney Failure, Chronic; anthropometric parameters diabetes, type 2 insulin; diabetes, type 2; glucose tolerance; atherosclerosis; Alzheimer's disease ; glucose tolerance; insulin; body fat; atherosclerosis, diabetic; body mass; diabetes, type 2; hypertension; albuminuria; glycohemoglobin A1; diabetes or impaired glucose tolerance; Atrophy|Helicobacter Infections|Stomach Neoplasms; insulin; body fat; metabolic syndrome; diabetes, type 2 glucose insulin obesity; Obesity, Morbid; Cardiomyopathy, Hypertrophic|Hypertrophic Cardiomyopathy|Noonan Syndrome|Pulmonary Valve Stenosis|Syndrome|Turner's phenotype, karyotype normal; type 1 diabetes; Lymphoma, Non-Hodgkin; Insulin Resistance|Metabolic Syndrome X; obesity; hypertension; diabetes, type 2 Homozygotes for targeted null mutations exhibit greatly reduced adiposity due to reduced fat cell mass, increased basal metabolic rate, mild hypoglycemia and hypoinsulinemia, increased insulin sensitivity, and enhanced sensitivity to leptin. Growth hormone receptor signaling GO:0006470;protein dephosphorylation;IMP|GO:0006987;activation of signaling protein activity involved in unfolded protein response;TAS|GO:0007257;activation of JUN kinase activity;IEA|GO:0008286;insulin receptor signaling pathway;IEA|GO:0009966;regulation of signal transduction;IMP|GO:0009968;negative regulation of signal transduction;TAS|GO:0016311;dephosphorylation;IEA|GO:0030100;regulation of endocytosis;IDA|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;ISS|GO:0030968;endoplasmic reticulum unfolded protein response;IDA|GO:0031532;actin cytoskeleton reorganization;IMP|GO:0033157;regulation of intracellular protein transport;IMP|GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IDA|GO:0035791;platelet-derived growth factor receptor-beta signaling pathway;IMP|GO:0036498;IRE1-mediated unfolded protein response;IEA|GO:0043407;negative regulation of MAP kinase activity;IMP|GO:0046626;regulation of insulin receptor signaling pathway;IEA|GO:0046627;negative regulation of insulin receptor signaling pathway;NAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS|GO:0060397;JAK-STAT cascade involved in growth hormone signaling pathway;TAS|GO:0061098;positive regulation of protein tyrosine kinase activity;IDA|GO:0070373;negative regulation of ERK1 and ERK2 cascade;ISS|GO:1902202;regulation of hepatocyte growth factor receptor signaling pathway;IMP|GO:1902236;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA|GO:1903896;positive regulation of IRE1-mediated unfolded protein response;TAS|GO:1903898;negative regulation of PERK-mediated unfolded protein response;IDA|GO:1990264;peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity;ISS|GO:2000646;positive regulation of receptor catabolic process;IMP GO:0005737;cytoplasm;IEA|GO:0005769;early endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0097443;sorting endosome;ISS|GO:0098554;cytoplasmic side of endoplasmic reticulum membrane;IDA GO:0003723;RNA binding;IDA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005158;insulin receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0030971;receptor tyrosine kinase binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046875;ephrin receptor binding;IPI|GO:0051721;protein phosphatase 2A binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPN1 https://www.ncbi.nlm.nih.gov/omim/?term=176885 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN1&submit=Quick%0D%16348ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN1 11_21.322_43.322 Chr11:11392976-25199292 1.269 PTPN5 ENSG00000110786 protein tyrosine phosphatase, non-receptor type 5 chr11:18749475-18814268 Tobacco Use Disorder; Cell Transformation, Neoplastic|Colorectal Neoplasms|Microsatellite Instability; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit normal brain development. GO:0006470;protein dephosphorylation;IEA|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001784;phosphotyrosine binding;IDA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPN5 https://www.uniprot.org/uniprot/P54829 https://www.ncbi.nlm.nih.gov/omim/?term=176879 http://www.informatics.jax.org/searchtool/Search.do?query=PTPN5&submit=Quick%0D%3992ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPN5 12_78.016_106.016 Chr12:64973018-92996828 1.299 PTPRB ENSG00000127329 protein tyrosine phosphatase, receptor type B chr12:70910630-71031220 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] Calcium; Tobacco Use Disorder; Alcoholism|Substance-Related Disorders; Alcoholism; Chronic renal failure|Kidney Failure, Chronic Mice homozygous for a null allele exhibit embryonic lethality at E10, impaired vascular maintenace and remodeling, heart defects and abnormal yolk sac vasculature. Neutrophil degranulation GO:0001525;angiogenesis;IEA|GO:0006470;protein dephosphorylation;TAS|GO:0006796;phosphate-containing compound metabolic process;TAS|GO:0016311;dephosphorylation;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0043235;receptor complex;IDA|GO:0070821;tertiary granule membrane;TAS GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPRB https://www.uniprot.org/uniprot/P23467 https://www.ncbi.nlm.nih.gov/omim/?term=176882 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRB&submit=Quick%0D%6023ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRB 12_78.016_106.016 Chr12:64973018-92996828 1.299 PTPRQ ENSG00000139304 protein tyrosine phosphatase, receptor type Q chr12:80799774-81072802 This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014] Erythrocyte Indices; Electrocardiography; Uric Acid; Bipolar Disorder; Tobacco Use Disorder; Exercise Test Homozygotes for targeted mutations show absence of shaft connectors from vestibular hair bundles, postnatal degeneration in cochlear hair-bundle structure, reduced transducer currents but otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness. GO:0002244;hematopoietic progenitor cell differentiation;IEA|GO:0006470;protein dephosphorylation;IEA|GO:0007155;cell adhesion;IEA|GO:0016311;dephosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0046856;phosphatidylinositol dephosphorylation;IEA|GO:0050767;regulation of neurogenesis;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060116;vestibular receptor cell morphogenesis;IEA GO:0005578;proteinaceous extracellular matrix;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0032421;stereocilium bundle;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/PTPRQ https://www.uniprot.org/uniprot/Q9UMZ3 https://hpo.jax.org/app/browse/search?q=PTPRQ&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603317 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRQ&submit=Quick%0D%7868ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRQ 12_78.016_106.016 Chr12:64973018-92996828 1.299 PTPRR ENSG00000153233 protein tyrosine phosphatase, receptor type R chr12:71031853-71314623 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011] Alcoholism; Chronic renal failure|Kidney Failure, Chronic; Waist-Hip Ratio; Parkinson Disease; Tobacco Use Disorder Mice homozygous for a knock-out allele exhibit increased ERK1/2 phosphorylation levels in cerebellar Purkinje cells, decreased grip strength, and ataxia characterized by fine motor coordination and balance defects. GO:0001701;in utero embryonic development;IEP|GO:0006470;protein dephosphorylation;TAS|GO:0010633;negative regulation of epithelial cell migration;IMP|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0038128;ERBB2 signaling pathway;IMP|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005001;transmembrane receptor protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019901;protein kinase binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/PTPRR https://www.uniprot.org/uniprot/Q15256 https://www.ncbi.nlm.nih.gov/omim/?term=602853 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRR&submit=Quick%0D%9644ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRR 20_50.701_78.701 Chr20:25016495-51804476 1.1 PTPRT ENSG00000196090 protein tyrosine phosphatase, receptor type T chr20:40701392-41818610 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] Cholesterol, LDL; Socioeconomic Factors; Metabolism; Depressive Disorder, Major; Magnesium; Diabetes Mellitus; Arthritis, Rheumatoid|; Sleep; Tobacco Use Disorder; Gallbladder Diseases; Kidney Diseases; Echocardiography; Cholesterol; breast cancer colorectal cancer leukemia liver cancer lung cancer stomach cancer; Body Weights and Measures; Pancreatic Neoplasms; smoking cessation; Alcoholism Mice homozygous for a knock-out allele are highly susceptible to carcinogen azoxymethane-induced colon tumors. GO:0006470;protein dephosphorylation;IDA|GO:0007155;cell adhesion;NAS|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IDA|GO:0007165;signal transduction;NAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IMP|GO:0016311;dephosphorylation;IEA|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA GO:0005886;plasma membrane;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016790;thiolester hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0045294;alpha-catenin binding;IDA|GO:0045295;gamma-catenin binding;IDA|GO:0045296;cadherin binding;IPI|GO:0051393;alpha-actinin binding;IEA|GO:0070097;delta-catenin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PTPRT https://www.ncbi.nlm.nih.gov/omim/?term=608712 http://www.informatics.jax.org/searchtool/Search.do?query=PTPRT&submit=Quick%0D%16250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PTPRT 20_50.701_78.701 Chr20:25016495-51804476 1.1 PXMP4 ENSG00000101417 peroxisomal membrane protein 4 chr20:32294512-32308125 GO:0008150;biological_process;ND GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/PXMP4 https://www.uniprot.org/uniprot/Q9Y6I8 https://www.ncbi.nlm.nih.gov/omim/?term=616397 http://www.informatics.jax.org/searchtool/Search.do?query=PXMP4&submit=Quick%0D%2732ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PXMP4 20_50.701_78.701 Chr20:25016495-51804476 1.1 PYGB ENSG00000100994 glycogen phosphorylase B chr20:25228705-25278650 The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Alzheimer's disease ; longevity; hypertension Glycogen breakdown (glycogenolysis) GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005980;glycogen catabolic process;NAS|GO:0008152;metabolic process;IEA|GO:0043312;neutrophil degranulation;TAS GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IDA|GO:0016020;membrane;IDA|GO:0035578;azurophil granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0003824;catalytic activity;IEA|GO:0004645;phosphorylase activity;IEA|GO:0005515;protein binding;IPI|GO:0008184;glycogen phosphorylase activity;NAS|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0030170;pyridoxal phosphate binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/PYGB https://www.uniprot.org/uniprot/P11216 https://www.ncbi.nlm.nih.gov/omim/?term=138550 http://www.informatics.jax.org/searchtool/Search.do?query=PYGB&submit=Quick%0D%2634ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=PYGB 19_20.212_38.212 Chr19:6565245-15124834 0.429 QTRT1 ENSG00000213339 queuine tRNA-ribosyltransferase catalytic subunit 1 chr19:10812106-10824113 This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012] Mice heterozygous or homozygous for a gene trap allele exhibit reduced phenylalanine conversion to tyrosine and reduced cell levels of queuosine-modified tRNA. tRNA modification in the nucleus and cytosol GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0008616;queuosine biosynthetic process;IEA|GO:0101030;tRNA-guanine transglycosylation;NAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0016020;membrane;IEA GO:0008479;queuine tRNA-ribosyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016763;transferase activity, transferring pentosyl groups;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/QTRT1 https://www.ncbi.nlm.nih.gov/omim/?term=609615 http://www.informatics.jax.org/searchtool/Search.do?query=QTRT1&submit=Quick%0D%18113ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=QTRT1 20_50.701_78.701 Chr20:25016495-51804476 1.1 R3HDML ENSG00000101074 R3H domain containing like chr20:42965626-42979875 GO:0010466;negative regulation of peptidase activity;IEA GO:0005576;extracellular region;IEA GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/R3HDML https://www.uniprot.org/uniprot/Q9H3Y0 http://www.informatics.jax.org/searchtool/Search.do?query=R3HDML&submit=Quick%0D%2645ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=R3HDML 19_20.212_38.212 Chr19:6565245-15124834 0.429 RAB11B ENSG00000185236 RAB11B, member RAS oncogene family chr19:8454865-8469318 The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathways (summary by Zhu et al., 1994 [PubMed 7811277]).[supplied by OMIM, Nov 2010] Cholesterol, HDL; Acquired Immunodeficiency Syndrome|Disease Progression RAB geranylgeranylation GO:0001881;receptor recycling;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0032402;melanosome transport;IEA|GO:0033572;transferrin transport;IEA|GO:0035773;insulin secretion involved in cellular response to glucose stimulus;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044070;regulation of anion transport;IMP|GO:0045054;constitutive secretory pathway;IMP|GO:0045055;regulated exocytosis;IEA|GO:0061024;membrane organization;TAS|GO:0071468;cellular response to acidic pH;IDA|GO:0090150;establishment of protein localization to membrane;IMP|GO:1990126;retrograde transport, endosome to plasma membrane;IMP|GO:2000008;regulation of protein localization to cell surface;IMP|GO:2001135;regulation of endocytic recycling;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030670;phagocytic vesicle membrane;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0045202;synapse;IEA|GO:0045335;phagocytic vesicle;IDA|GO:0055037;recycling endosome;IEA|GO:0055038;recycling endosome membrane;TAS|GO:0070062;extracellular exosome;IDA|GO:0098993;anchored component of synaptic vesicle membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0019003;GDP binding;IDA|GO:0031489;myosin V binding;IPI|GO:0045296;cadherin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RAB11B https://hpo.jax.org/app/browse/search?q=RAB11B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604198 http://www.informatics.jax.org/searchtool/Search.do?query=RAB11B&submit=Quick%0D%15370ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB11B 12_78.016_106.016 Chr12:64973018-92996828 1.299 RAB21 ENSG00000080371 RAB21, member RAS oncogene family chr12:72148654-72184699 This gene belongs to the Rab family of monomeric GTPases, which are involved in the control of cellular membrane traffic. The encoded protein plays a role in the targeted trafficking of integrins via its association with integrin alpha tails. As a consequence, the encoded protein is involved in the regulation of cell adhesion and migration. Expression of this gene is associated with a poor prognosis for glioma patients. This gene is downregulated by the tumor suppressor miR-200b, and miRNA-200b is itself downregulated in glioma tissues. [provided by RefSeq, Nov 2015] RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0008089;anterograde axonal transport;IEA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;IDA|GO:0030516;regulation of axon extension;IEA|GO:0048260;positive regulation of receptor-mediated endocytosis;IMP|GO:0050775;positive regulation of dendrite morphogenesis;IEA|GO:0061024;membrane organization;TAS|GO:2000643;positive regulation of early endosome to late endosome transport;IMP GO:0000139;Golgi membrane;IEA|GO:0005768;endosome;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0012506;vesicle membrane;IDA|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;TAS|GO:0032154;cleavage furrow;IEA|GO:0032580;Golgi cisterna membrane;IDA|GO:0043005;neuron projection;IEA|GO:0070062;extracellular exosome;IDA|GO:0098559;cytoplasmic side of early endosome membrane;IDA|GO:1904115;axon cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IDA|GO:0019003;GDP binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RAB21 https://www.uniprot.org/uniprot/Q9UL25 https://www.ncbi.nlm.nih.gov/omim/?term=612398 http://www.informatics.jax.org/searchtool/Search.do?query=RAB21&submit=Quick%0D%1728ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB21 19_20.212_38.212 Chr19:6565245-15124834 0.429 RAB3D ENSG00000105514 RAB3D, member RAS oncogene family chr19:11432722-11456946 Acquired Immunodeficiency Syndrome|Disease Progression Mice homozygous for disruptions in this gene show no obvious phenotypic changes. Secretory granules in mast cells and some exocrine glands are double in volume however. RAB geranylgeranylation GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0017157;regulation of exocytosis;IEA|GO:0018125;peptidyl-cysteine methylation;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045453;bone resorption;IDA|GO:1903307;positive regulation of regulated secretory pathway;IMP GO:0005739;mitochondrion;IEA|GO:0005881;cytoplasmic microtubule;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030133;transport vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0042588;zymogen granule;IEA|GO:0070062;extracellular exosome;IDA|GO:0099503;secretory vesicle;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IEA|GO:0030742;GTP-dependent protein binding;IEA|GO:0031489;myosin V binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAB3D https://www.uniprot.org/uniprot/O95716 https://www.ncbi.nlm.nih.gov/omim/?term=604350 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3D&submit=Quick%0D%3322ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3D 12_78.016_106.016 Chr12:64973018-92996828 1.299 RAB3IP ENSG00000127328 RAB3A interacting protein chr12:70132461-70216984 Homozygous null mice are fertile and show no obvious abnormalities. RAB GEFs exchange GTP for GDP on RABs GO:0006612;protein targeting to membrane;IDA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS|GO:0097711;ciliary basal body docking;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0030027;lamellipodium;IEA|GO:0042995;cell projection;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/RAB3IP https://www.uniprot.org/uniprot/Q96QF0 https://www.ncbi.nlm.nih.gov/omim/?term=608686 http://www.informatics.jax.org/searchtool/Search.do?query=RAB3IP&submit=Quick%0D%6022ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB3IP 22_57.194_74.694 Chr22:45430165-51215481 0.519 RABL2B ENSG00000079974 RAB, member of RAS oncogene family like 2B chr22:51205929-51222091 The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] Mice homozygous for an ENU-induced allele exhibit male infertility, reduced testis weight, oligospermia, asthenozoospermia and short flagellum. GO:0007264;small GTPase mediated signal transduction;IEA GO:0005622;intracellular;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RABL2B https://www.uniprot.org/uniprot/Q9UNT1 https://www.ncbi.nlm.nih.gov/omim/?term=605413 http://www.informatics.jax.org/searchtool/Search.do?query=RABL2B&submit=Quick%0D%1717ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RABL2B 19_20.212_38.212 Chr19:6565245-15124834 0.429 RAD23A ENSG00000179262 RAD23 homolog A, nucleotide excision repair protein chr19:13056669-13064456 The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding domain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012] multiple sclerosis; DNA Damage|Melanoma; breast cancer; Type 2 Diabetes| edema | rosiglitazone Mice with a targeted disruption of this gene show no obvious phenotype. Formation of Incision Complex in GG-NER GO:0006281;DNA repair;IEA|GO:0006289;nucleotide-excision repair;IDA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016032;viral process;IEA|GO:0016579;protein deubiquitination;TAS|GO:0031648;protein destabilization;IMP|GO:0032434;regulation of proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IMP|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;IEA|GO:0045070;positive regulation of viral genome replication;IMP|GO:0045787;positive regulation of cell cycle;IMP GO:0000502;proteasome complex;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005815;microtubule organizing center;IDA|GO:0005829;cytosol;IDA|GO:0043234;protein complex;IMP GO:0003684;damaged DNA binding;IEA|GO:0003697;single-stranded DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IPI|GO:0031593;polyubiquitin binding;IDA|GO:1990381;ubiquitin-specific protease binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RAD23A https://www.ncbi.nlm.nih.gov/omim/?term=600061 http://www.informatics.jax.org/searchtool/Search.do?query=RAD23A&submit=Quick%0D%14316ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAD23A 20_50.701_78.701 Chr20:25016495-51804476 1.1 RALGAPB ENSG00000170471 Ral GTPase activating protein non-catalytic beta subunit chr20:37101459-37207504 Translocation of GLUT4 to the plasma membrane GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005096;GTPase activator activity;IBA|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/RALGAPB http://www.informatics.jax.org/searchtool/Search.do?query=RALGAPB&submit=Quick%0D%12715ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RALGAPB 20_50.701_78.701 Chr20:25016495-51804476 1.1 RALY ENSG00000125970 RALY heterogeneous nuclear ribonucleoprotein chr20:32581452-32696114 This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] Tobacco Use Disorder Mice homozygous for a gene trap allele are viable. GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:1903506;regulation of nucleic acid-templated transcription;ISS|GO:2000188;regulation of cholesterol homeostasis;ISS GO:0005634;nucleus;TAS|GO:0005681;spliceosomal complex;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003712;transcription cofactor activity;ISS|GO:0003723;RNA binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RALY https://www.uniprot.org/uniprot/Q9UKM9 https://www.ncbi.nlm.nih.gov/omim/?term=614663 http://www.informatics.jax.org/searchtool/Search.do?query=RALY&submit=Quick%0D%5891ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RALY 12_78.016_106.016 Chr12:64973018-92996828 1.299 RAP1B ENSG00000127314 RAP1B, member of RAS oncogene family chr12:69004619-69054372 This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011] Carcinoma, Papillary|Thyroid Neoplasms; HIV Infections|[X]Human immunodeficiency virus disease Homozygous null mice display partial embryonic and perinatal lethality, abdominal, cranial, and hepatic bleeding in mice that die in utero, reduced platelet aggregation, and decreased thrombus formation. Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation GO:0007165;signal transduction;IEA|GO:0032486;Rap protein signal transduction;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0061028;establishment of endothelial barrier;IMP|GO:0071320;cellular response to cAMP;IDA|GO:1901888;regulation of cell junction assembly;IMP|GO:2000114;regulation of establishment of cell polarity;IMP GO:0005622;intracellular;IDA|GO:0005737;cytoplasm;IEA|GO:0005811;lipid particle;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IDA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IDA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0019003;GDP binding;IDA|GO:0032403;protein complex binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RAP1B https://www.uniprot.org/uniprot/P61224 https://hpo.jax.org/app/browse/search?q=RAP1B&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=179530 http://www.informatics.jax.org/searchtool/Search.do?query=RAP1B&submit=Quick%0D%6018ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAP1B 11_21.322_43.322 Chr11:11392976-25199292 1.269 RASSF10 ENSG00000189431 Ras association domain family member 10 chr11:13030696-13032647 Blood Coagulation Factors; Menarche; Tunica Media; Cholesterol, LDL GO:0007165;signal transduction;IEA GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA http://www.genecards.org/index.php?path=/Search/keyword/RASSF10 https://www.ncbi.nlm.nih.gov/omim/?term=614713 http://www.informatics.jax.org/searchtool/Search.do?query=RASSF10&submit=Quick%0D%16243ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASSF10 12_78.016_106.016 Chr12:64973018-92996828 1.299 RASSF3 ENSG00000153179 Ras association domain family member 3 chr12:65004293-65091347 The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are plasma membrane GTP-binding proteins that modulate intracellular signal transduction pathways. A subfamily of RAS effectors, including RASSF3, share a RAS association (RA) domain.[supplied by OMIM, Jul 2003] Heart Rate; Bone Density; Coronary Disease GO:0007165;signal transduction;IEA|GO:0042981;regulation of apoptotic process;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RASSF3 https://www.uniprot.org/uniprot/Q86WH2 https://www.ncbi.nlm.nih.gov/omim/?term=607019 http://www.informatics.jax.org/searchtool/Search.do?query=RASSF3&submit=Quick%0D%9637ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASSF3 12_78.016_106.016 Chr12:64973018-92996828 1.299 RASSF9 ENSG00000198774 Ras association domain family member 9 chr12:86198331-86230348 The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq, Jul 2008] Mice homozygous for a null allele exhibit premature lethality, alopecia, lung defects, and abnormal skin morphology and physiology. GO:0006605;protein targeting;NAS|GO:0007165;signal transduction;IEA|GO:0016197;endosomal transport;NAS GO:0005768;endosome;IDA|GO:0005829;cytosol;IDA|GO:0012510;trans-Golgi network transport vesicle membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;NAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RASSF9 https://www.ncbi.nlm.nih.gov/omim/?term=610383 http://www.informatics.jax.org/searchtool/Search.do?query=RASSF9&submit=Quick%0D%17000ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RASSF9 19_20.212_38.212 Chr19:6565245-15124834 0.429 RAVER1 ENSG00000161847 ribonucleoprotein, PTB binding 1 chr19:10426888-10444316 Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Meningeal Neoplasms|meningioma; Type 2 Diabetes| edema | rosiglitazone Mice homozygous for a null allele exhibit reduced long term potentiation and depression. GO:0000398;mRNA splicing, via spliceosome;IBA GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RAVER1 https://www.ncbi.nlm.nih.gov/omim/?term=609950 http://www.informatics.jax.org/searchtool/Search.do?query=RAVER1&submit=Quick%0D%10612ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RAVER1 20_50.701_78.701 Chr20:25016495-51804476 1.1 RBL1 ENSG00000080839 RB transcriptional corepressor like 1 chr20:35724188-35725581 The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] esophageal adenocarcinoma; Bone Mineral Density; Tobacco Use Disorder; ovarian cancer Homozygotes for targeted null mutations are viable and fertile, but may show impaired growth, myeloid hyperplasia in spleen and liver and give rise to cells with a 2X doubling time in vitro. These effects are genetic background dependent. Cyclin D associated events in G1 GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007049;cell cycle;IEA|GO:0010629;negative regulation of gene expression;IMP|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0043550;regulation of lipid kinase activity;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS|GO:0051726;regulation of cell cycle;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:1990841;promoter-specific chromatin binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/RBL1 https://www.uniprot.org/uniprot/P28749 https://www.ncbi.nlm.nih.gov/omim/?term=116957 http://www.informatics.jax.org/searchtool/Search.do?query=RBL1&submit=Quick%0D%1747ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBL1 20_50.701_78.701 Chr20:25016495-51804476 1.1 RBM12 ENSG00000244462 RNA binding motif protein 12 chr20:34236847-34252878 This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5' UTR results in four transcript variants. All variants encode the same protein. [provided by RefSeq, Nov 2010] Mice homozygous for an ENU mutation exhibit open neural tube and embryonic growth retardation. GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RBM12 https://www.ncbi.nlm.nih.gov/omim/?term=607179 http://www.informatics.jax.org/searchtool/Search.do?query=RBM12&submit=Quick%0D%19847ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM12 20_50.701_78.701 Chr20:25016495-51804476 1.1 RBM39 ENSG00000131051 RNA binding motif protein 39 chr20:34291531-34330234 This gene encodes a member of the U2AF65 family of proteins. The encoded protein is found in the nucleus, where it co-localizes with core spliceosomal proteins. It has been shown to play a role in both steroid hormone receptor-mediated transcription and alternative splicing, and it is also a transcriptional coregulator of the viral oncoprotein v-Rel. Multiple transcript variants have been observed for this gene. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Aug 2011] Homozygous disruption of this locus results in embryonic lethality. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006396;RNA processing;TAS|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005815;microtubule organizing center;IDA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016607;nuclear speck;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RBM39 https://www.uniprot.org/uniprot/Q14498 https://www.ncbi.nlm.nih.gov/omim/?term=604739 http://www.informatics.jax.org/searchtool/Search.do?query=RBM39&submit=Quick%0D%6485ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM39 20_50.701_78.701 Chr20:25016495-51804476 1.1 RBPJL ENSG00000124232 recombination signal binding protein for immunoglobulin kappa J region like chr20:43935491-43945803 This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Mice homozygous for disruptions in this gene do not display any obvious phenotype abnormalities. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007165;signal transduction;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000982;transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/RBPJL https://www.uniprot.org/uniprot/Q9UBG7 https://www.ncbi.nlm.nih.gov/omim/?term=616104 http://www.informatics.jax.org/searchtool/Search.do?query=RBPJL&submit=Quick%0D%5629ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RBPJL 19_20.212_38.212 Chr19:6565245-15124834 0.429 RDH8 ENSG00000080511 retinol dehydrogenase 8 (all-trans) chr19:10123925-10132955 This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhodopsin regeneration pathway. This enzymatic reaction is the rate-limiting step in the visual cycle. [provided by RefSeq, Feb 2014] Myopia Homozygous null mice are viable and fertile but display delayed dark adaptation. The canonical retinoid cycle in rods (twilight vision) GO:0006703;estrogen biosynthetic process;IEA|GO:0007601;visual perception;IEA|GO:0042572;retinol metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0005737;cytoplasm;IEA GO:0004303;estradiol 17-beta-dehydrogenase activity;IEA|GO:0004745;retinol dehydrogenase activity;IEA|GO:0016491;oxidoreductase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RDH8 https://www.uniprot.org/uniprot/Q9NYR8 https://www.ncbi.nlm.nih.gov/omim/?term=608575 http://www.informatics.jax.org/searchtool/Search.do?query=RDH8&submit=Quick%0D%1731ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RDH8 20_50.701_78.701 Chr20:25016495-51804476 1.1 REM1 ENSG00000088320 RRAD and GEM like GTPase 1 chr20:30063096-30072708 The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008] GO:0007165;signal transduction;IEA GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005516;calmodulin binding;IEA|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/REM1 https://www.uniprot.org/uniprot/O75628 https://www.ncbi.nlm.nih.gov/omim/?term=610388 http://www.informatics.jax.org/searchtool/Search.do?query=REM1&submit=Quick%0D%1996ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=REM1 19_20.212_38.212 Chr19:6565245-15124834 0.429 RETN ENSG00000104918 resistin chr19:7733930-7735334 This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010] body mass; Diabetes Mellitus, Type 2|Insulin Resistance; Glomerulonephritis, IGA; resistin; Obesity|Weight Loss; Cardiovascular Diseases; polycystic ovary syndrome.; body mass glucose tolerance glycemia insulin; atherosclerosis; diabetes, type 2; insulin; obesity; body fat body mass diabetes, type 2 lipoprotein; metabolic syndrome; metabolic traits; Colonic Neoplasms; Diabetes Mellitus, Type 2|Hypertension|Hypotension|Insulin Resistance; Coronary Artery Disease; Obesity, Morbid; diabetes, type 2; plasma resistin levels; Insulin Resistance|Polycystic Ovary Syndrome; diabetes, type 2; hypertension; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; diabetes, type 2; insulin sensitivity; hormone disturbance polycystic ovary syndrome; Insulin Resistance; diabetes, type 2; obesity; Body Weight|Diabetes Mellitus; Hypercholesterolemia|LDLC levels; blood pressure, arterial body mass kidney disease metabolic syndrome myocardial infarct obesity triglycerides; Cardiomyopathy, Hypertrophic|Hypertrophic Cardiomyopathy; insulin resistance; body mass; glucose tolerance; insulin; obesity; plasma HDL cholesterol (HDL-C) levels; anorexia nervosa obesity; Type 2 Diabetes| edema | rosiglitazone; decreased risk of insulin resistance; brain hemorrhage cerebral infarct, atherothrombotic stroke, lacunar; body mass bone density muscle testing; colorectal cancer; Autism; Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; insulin; Kidney Failure, Chronic; Insulin Resistance|Metabolic Syndrome X|Obesity|Overweight; BMI- Edema rosiglitazone or pioglitazone; Acute Coronary Syndrome|Inflammation; Type II diabetes and hypertension; C-reactive protein cholesterol, HDL insulin; Diabetes Mellitus, Type 2|Diabetic Angiopathies|Stroke; type 2 diabetes | coronary heart disease; Diabetes Mellitus, Type 2; Type 2 diabetes; diabetes, type 2; cholesterol, LDL; glucose tolerance; blood pressure, arterial; glycosylated hemoglobin A1; body mass; cholesterol, HDL; triglycerides; diabetes, type 2; cholesterol, LDL; hypertension; atherosclerosis; obesity Homozygous null mice display impaired gluconeogenesis, lower fasting blood glucose levels, and a weaker positive correlation between body weight and blood glucose. Neutrophil degranulation GO:0007568;aging;IEA|GO:0008150;biological_process;ND|GO:0009612;response to mechanical stimulus;IEA|GO:0010714;positive regulation of collagen metabolic process;IEA|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0032868;response to insulin;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045444;fat cell differentiation;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0050806;positive regulation of synaptic transmission;IEA|GO:2000252;negative regulation of feeding behavior;IEA|GO:2000872;positive regulation of progesterone secretion;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005634;nucleus;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0005179;hormone activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/RETN https://www.uniprot.org/uniprot/Q9HD89 https://www.ncbi.nlm.nih.gov/omim/?term=605565 http://www.informatics.jax.org/searchtool/Search.do?query=RETN&submit=Quick%0D%3203ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RETN 19_20.212_38.212 Chr19:6565245-15124834 0.429 RFX1 ENSG00000132005 regulatory factor X1 chr19:14072350-14117851 This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016] Mice homozygous for a gene trap allele die prior to implantation. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006955;immune response;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IBA|GO:0003677;DNA binding;IEA|GO:0003705;transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RFX1 https://www.uniprot.org/uniprot/P22670 https://www.ncbi.nlm.nih.gov/omim/?term=600006 http://www.informatics.jax.org/searchtool/Search.do?query=RFX1&submit=Quick%0D%6617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RFX1 19_20.212_38.212 Chr19:6565245-15124834 0.429 RGL3 ENSG00000205517 ral guanine nucleotide dissociation stimulator like 3 chr19:11495017-11530018 Type 2 Diabetes| edema | rosiglitazone GO:0007165;signal transduction;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008321;Ral guanyl-nucleotide exchange factor activity;IEA|GO:0017016;Ras GTPase binding;IEA|GO:0031267;small GTPase binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RGL3 https://www.ncbi.nlm.nih.gov/omim/?term=616743 http://www.informatics.jax.org/searchtool/Search.do?query=RGL3&submit=Quick%0D%17527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RGL3 22_57.194_74.694 Chr22:45430165-51215481 0.519 RIBC2 ENSG00000128408 RIB43A domain with coiled-coils 2 chr22:45809572-45828376 Hemoglobin A, Glycosylated http://www.genecards.org/index.php?path=/Search/keyword/RIBC2 https://www.uniprot.org/uniprot/Q9H4K1 http://www.informatics.jax.org/searchtool/Search.do?query=RIBC2&submit=Quick%0D%6135ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIBC2 20_50.701_78.701 Chr20:25016495-51804476 1.1 RIMS4 ENSG00000101098 regulating synaptic membrane exocytosis 4 chr20:43380449-43438979 Tobacco Use Disorder; HIV Infections|[X]Human immunodeficiency virus disease; Socioeconomic Factors Mice homozygous for an ENU-induec allele exhibit reduced body weight. GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006887;exocytosis;IEA|GO:0042391;regulation of membrane potential;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:2000300;regulation of synaptic vesicle exocytosis;IBA GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;TAS|GO:0097060;synaptic membrane;ISS GO:0044325;ion channel binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/RIMS4 https://www.uniprot.org/uniprot/Q9H426 https://www.ncbi.nlm.nih.gov/omim/?term=611601 http://www.informatics.jax.org/searchtool/Search.do?query=RIMS4&submit=Quick%0D%2650ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMS4 19_20.212_38.212 Chr19:6565245-15124834 0.429 RLN3 ENSG00000171136 relaxin 3 chr19:14138960-14141854 This gene encodes a member of the relaxin family of insulin-like hormones that is expressed predominantly in the brain and plays a role in physiological processes such as stress, memory and appetite regulation. The encoded protein is a precursor that is proteolytically processed to generate a heterodimeric mature form consisting A and B chains interlinked by disulfide bonds. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015] preterm birth Mice homozygous for a knock-out allele exhibit abnormal body weight regulation, actvity levels, social investigation and behavioral despair. Relaxin receptors GO:0005576;extracellular region;TAS GO:0001664;G-protein coupled receptor binding;IEA|GO:0005179;hormone activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RLN3 https://www.ncbi.nlm.nih.gov/omim/?term=606855 http://www.informatics.jax.org/searchtool/Search.do?query=RLN3&submit=Quick%0D%12860ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RLN3 19_20.212_38.212 Chr19:6565245-15124834 0.429 RNASEH2A ENSG00000104889 ribonuclease H2 subunit A chr19:12917394-12924452 The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009] Erythrocyte Indices GO:0006260;DNA replication;TAS|GO:0006298;mismatch repair;IDA|GO:0006401;RNA catabolic process;TAS|GO:0016070;RNA metabolic process;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0032299;ribonuclease H2 complex;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0004518;nuclease activity;IEA|GO:0004519;endonuclease activity;IEA|GO:0004523;RNA-DNA hybrid ribonuclease activity;IDA|GO:0004540;ribonuclease activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RNASEH2A https://www.uniprot.org/uniprot/O75792 https://hpo.jax.org/app/browse/search?q=RNASEH2A&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606034 http://www.informatics.jax.org/searchtool/Search.do?query=RNASEH2A&submit=Quick%0D%3194ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNASEH2A 20_50.701_78.701 Chr20:25016495-51804476 1.1 RNF114 ENSG00000124226 ring finger protein 114 chr20:48552948-48570429 Arthritis, Psoriatic|Psoriasis|Psoriatic arthropathy; Parkinson's disease ; Parkinson Disease; Psoriasis Antigen processing: Ubiquitination & Proteasome degradation GO:0000209;protein polyubiquitination;TAS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030154;cell differentiation;IEA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA GO:0005622;intracellular;IDA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/RNF114 https://www.uniprot.org/uniprot/Q9Y508 https://www.ncbi.nlm.nih.gov/omim/?term=612451 http://www.informatics.jax.org/searchtool/Search.do?query=RNF114&submit=Quick%0D%5626ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF114 16_129.974_134.474 Chr16:87933002-90108832 0.174 RNF166 ENSG00000158717 ring finger protein 166 chr16:88762903-88772829 GO:0000209;protein polyubiquitination;IBA|GO:0032436;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;IBA GO:0005622;intracellular;IBA GO:0008270;zinc ion binding;IEA|GO:0031624;ubiquitin conjugating enzyme binding;IBA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/RNF166 https://www.ncbi.nlm.nih.gov/omim/?term=617178 http://www.informatics.jax.org/searchtool/Search.do?query=RNF166&submit=Quick%0D%10243ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RNF166 20_50.701_78.701 Chr20:25016495-51804476 1.1 ROMO1 ENSG00000125995 reactive oxygen species modulator 1 chr20:34287194-34288906 The protein encoded by this gene is a mitochondrial membrane protein that is responsible for increasing the level of reactive oxygen species (ROS) in cells. The protein also has antimicrobial activity against a variety of bacteria by inducing bacterial membrane breakage. [provided by RefSeq, Nov 2014] Acquired Immunodeficiency Syndrome|Disease Progression GO:0001302;replicative cell aging;IMP|GO:0008284;positive regulation of cell proliferation;IDA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0042742;defense response to bacterium;IEA|GO:2000379;positive regulation of reactive oxygen species metabolic process;IDA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/ROMO1 https://www.uniprot.org/uniprot/P60602 http://www.informatics.jax.org/searchtool/Search.do?query=ROMO1&submit=Quick%0D%5896ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ROMO1 16_129.974_134.474 Chr16:87933002-90108832 0.174 RPL13 ENSG00000167526 ribosomal protein L13 chr16:89627065-89630950 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L13E family of ribosomal proteins. It is located in the cytoplasm. This gene is expressed at significantly higher levels in benign breast lesions than in breast carcinomas. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2011] Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;TAS|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0016020;membrane;IDA|GO:0022625;cytosolic large ribosomal subunit;IDA|GO:0022626;cytosolic ribosome;TAS|GO:0030529;intracellular ribonucleoprotein complex;IEA GO:0003723;RNA binding;TAS|GO:0003735;structural constituent of ribosome;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RPL13 https://www.ncbi.nlm.nih.gov/omim/?term=113703 http://www.informatics.jax.org/searchtool/Search.do?query=RPL13&submit=Quick%0D%12030ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPL13 20_50.701_78.701 Chr20:25016495-51804476 1.1 RPN2 ENSG00000118705 ribophorin II chr20:35806813-35870022 This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] hippocampal atrophy; Tobacco Use Disorder; Hippocampus Asparagine N-linked glycosylation GO:0006464;cellular protein modification process;TAS|GO:0006486;protein glycosylation;IEA|GO:0006487;protein N-linked glycosylation;IEA|GO:0007568;aging;IEA|GO:0018279;protein N-linked glycosylation via asparagine;TAS|GO:0042493;response to drug;IEA GO:0000421;autophagosome membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005791;rough endoplasmic reticulum;IEA|GO:0008250;oligosaccharyltransferase complex;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA GO:0004579;dolichyl-diphosphooligosaccharide-protein glycotransferase activity;NAS|GO:0005515;protein binding;IPI|GO:0043022;ribosome binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPN2 https://www.uniprot.org/uniprot/P04844 https://www.ncbi.nlm.nih.gov/omim/?term=180490 http://www.informatics.jax.org/searchtool/Search.do?query=RPN2&submit=Quick%0D%5003ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPN2 20_50.701_78.701 Chr20:25016495-51804476 1.1 RPRD1B ENSG00000101413 regulation of nuclear pre-mRNA domain containing 1B chr20:36661948-36720768 Bipolar Disorder RNA polymerase II transcribes snRNA genes GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0010564;regulation of cell cycle process;IDA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0070940;dephosphorylation of RNA polymerase II C-terminal domain;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0016591;DNA-directed RNA polymerase II, holoenzyme;IDA GO:0000993;RNA polymerase II core binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RPRD1B https://www.uniprot.org/uniprot/Q9NQG5 https://www.ncbi.nlm.nih.gov/omim/?term=614694 http://www.informatics.jax.org/searchtool/Search.do?query=RPRD1B&submit=Quick%0D%2731ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPRD1B 11_21.322_43.322 Chr11:11392976-25199292 1.269 RPS13 ENSG00000110700 ribosomal protein S13 chr11:17095936-17099334 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S15P family of ribosomal proteins. It is located in the cytoplasm. The protein has been shown to bind to the 5.8S rRNA in rat. The gene product of the E. coli ortholog (ribosomal protein S15) functions at early steps in ribosome assembly. This gene is co-transcribed with two U14 small nucleolar RNA genes, which are located in its third and fifth introns. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IEA|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS|GO:0033119;negative regulation of RNA splicing;IDA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003729;mRNA binding;IDA|GO:0003735;structural constituent of ribosome;IEA|GO:0005515;protein binding;IPI|GO:0048027;mRNA 5'-UTR binding;IDA|GO:0070181;small ribosomal subunit rRNA binding;IBA|GO:1990932;5.8S rRNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RPS13 https://www.uniprot.org/uniprot/P62277 https://www.ncbi.nlm.nih.gov/omim/?term=180476 http://www.informatics.jax.org/searchtool/Search.do?query=RPS13&submit=Quick%0D%3982ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS13 19_20.212_38.212 Chr19:6565245-15124834 0.429 RPS28 ENSG00000233927 ribosomal protein S28 chr19:8386042-8388224 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S28E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS Mice homozygous for a gene trap allele are viable and fertile. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) GO:0000028;ribosomal small subunit assembly;IBA|GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS|GO:0030490;maturation of SSU-rRNA;IBA|GO:0042254;ribosome biogenesis;IMP|GO:0042274;ribosomal small subunit biogenesis;IMP GO:0005622;intracellular;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0015935;small ribosomal subunit;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;IBA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/RPS28 https://hpo.jax.org/app/browse/search?q=RPS28&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603685 http://www.informatics.jax.org/searchtool/Search.do?query=RPS28&submit=Quick%0D%19216ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS28 11_21.322_43.322 Chr11:11392976-25199292 1.269 RRAS2 ENSG00000133818 related RAS viral (r-ras) oncogene homolog 2 chr11:14299472-14386052 This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] breast cancer ; Body Mass Index; Respiration Disorders; Parkinson's disease ; Alcoholism Homozygote and heterozygote null mice are lymphopenic, resulting from diminished homeostatic proliferation and impaired T cell and B cell survival. Mice homozygous for a gene trap insertion exhibit retinal degeneration, and increased total body mass and total body fat. GO:0001649;osteoblast differentiation;IDA|GO:0007165;signal transduction;IEA|GO:0007265;Ras protein signal transduction;IEA|GO:0009987;cellular process;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:1901214;regulation of neuron death;IMP GO:0005622;intracellular;IEA|GO:0005783;endoplasmic reticulum;NAS|GO:0005886;plasma membrane;NAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;TAS|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RRAS2 https://www.uniprot.org/uniprot/P62070 https://www.ncbi.nlm.nih.gov/omim/?term=600098 http://www.informatics.jax.org/searchtool/Search.do?query=RRAS2&submit=Quick%0D%6876ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RRAS2 19_20.212_38.212 Chr19:6565245-15124834 0.429 RTBDN ENSG00000132026 retbindin chr19:12936292-12946242 This gene was first identified in a study of human eye tissues. The protein encoded by this gene is preferentially expressed in the retina and may play a role in binding retinoids and other carotenoids as it shares homology with riboflavin binding proteins. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] mean corpuscular volume Targeted inactivation of this gene reduces flavin levels in the neural retina and leads to progressive and dose-dependent retinal photoreceptor degeneration of both rods and cones. GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0019897;extrinsic component of plasma membrane;IEA|GO:0033165;interphotoreceptor matrix;IEA GO:1902444;riboflavin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/RTBDN https://www.uniprot.org/uniprot/Q9BSG5 https://www.ncbi.nlm.nih.gov/omim/?term=609553 http://www.informatics.jax.org/searchtool/Search.do?query=RTBDN&submit=Quick%0D%6622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=RTBDN 19_20.212_38.212 Chr19:6565245-15124834 0.429 S1PR2 ENSG00000267534 sphingosine-1-phosphate receptor 2 chr19:10334520-10341948 This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. The encoded protein is a receptor for sphingosine 1-phosphate, which participates in cell proliferation, survival, and transcriptional activation. Defects in this gene have been associated with congenital profound deafness. [provided by RefSeq, Mar 2016] Lipoproteins, LDL; atherosclerosis Homozygous null mutations in this gene may lead to impaired auditory and vestibular function, multiple inner ear pathologies, deafness, altered neuronal excitability, lethal seizures, altered physiology of germinal center B cells, small litter size, and enhanced tumor angiogenesis and tumor growth. Lysosphingolipid and LPA receptors GO:0000187;activation of MAPK activity;TAS|GO:0003376;sphingosine-1-phosphate signaling pathway;IMP|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IMP|GO:0031532;actin cytoskeleton reorganization;IMP|GO:0046847;filopodium assembly;IMP|GO:0090394;negative regulation of excitatory postsynaptic potential;IEA|GO:1903142;positive regulation of establishment of endothelial barrier;IMP GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0001664;G-protein coupled receptor binding;IPI|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005178;integrin binding;IPI|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;TAS|GO:0038036;sphingosine-1-phosphate receptor activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/S1PR2 https://hpo.jax.org/app/browse/search?q=S1PR2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605111 http://www.informatics.jax.org/searchtool/Search.do?query=S1PR2&submit=Quick%0D%20666ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=S1PR2 19_20.212_38.212 Chr19:6565245-15124834 0.429 S1PR5 ENSG00000180739 sphingosine-1-phosphate receptor 5 chr19:10623623-10628607 The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.[supplied by OMIM, Mar 2008] obesity; Waist Circumference Bone marrow from mice homozygous for a knock-out allele induces impaired NK cell egression from the lymph nodes and bone marrow. Lysosphingolipid and LPA receptors GO:0003376;sphingosine-1-phosphate signaling pathway;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0045664;regulation of neuron differentiation;IEA GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0038036;sphingosine-1-phosphate receptor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/S1PR5 https://www.ncbi.nlm.nih.gov/omim/?term=605146 http://www.informatics.jax.org/searchtool/Search.do?query=S1PR5&submit=Quick%0D%14517ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=S1PR5 11_21.322_43.322 Chr11:11392976-25199292 1.269 SAA1 ENSG00000173432 serum amyloid A1 chr11:18287721-18291524 This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Alternate splicing results in multiple transcript variants that encode the same protein. A pseudogene of this gene is found on chromosome 11. [provided by RefSeq, Feb 2016] Alzheimer's disease ; amyloidosis; Familial Mediterranean Fever; Acute-Phase Serum Amyloid A; Amyloidosis|Arthritis, Rheumatoid|Familial Mediterranean Fever; rheumatoid arthritis; hypertension; amyloidosis; Cardiovascular Diseases; Familial Mediterranean Fever; Type 2 Diabetes| edema | rosiglitazone; Serum Amyloid A Protein Male mice homozygous for a knock-out of SAA1 and SAA2 exhibit increased serum cholesterol in LPS-treated. Amyloid fiber formation GO:0000187;activation of MAPK activity;IDA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006953;acute-phase response;IEA|GO:0007204;positive regulation of cytosolic calcium ion concentration;IDA|GO:0030168;platelet activation;NAS|GO:0030593;neutrophil chemotaxis;NAS|GO:0044267;cellular protein metabolic process;TAS|GO:0045087;innate immune response;TAS|GO:0045785;positive regulation of cell adhesion;IDA|GO:0048246;macrophage chemotaxis;IDA|GO:0048247;lymphocyte chemotaxis;IDA|GO:0050708;regulation of protein secretion;NAS|GO:0050715;positive regulation of cytokine secretion;IDA|GO:0050716;positive regulation of interleukin-1 secretion;NAS|GO:0050728;negative regulation of inflammatory response;NAS|GO:0050918;positive chemotaxis;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005881;cytoplasmic microtubule;IDA|GO:0034364;high-density lipoprotein particle;IEA|GO:0070062;extracellular exosome;IDA|GO:0071682;endocytic vesicle lumen;TAS GO:0001664;G-protein coupled receptor binding;IDA|GO:0008201;heparin binding;IEA|GO:0042056;chemoattractant activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SAA1 https://hpo.jax.org/app/browse/search?q=SAA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=104750 http://www.informatics.jax.org/searchtool/Search.do?query=SAA1&submit=Quick%0D%13356ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAA1 11_21.322_43.322 Chr11:11392976-25199292 1.269 SAA2 ENSG00000134339 serum amyloid A2 chr11:18260770-18270190 Aging/ Telomere Length; Mental Disorders; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; Cardiovascular Diseases; Tobacco Use Disorder; cognitive trait; amyloidosis; Familial Mediterranean Fever The CE/J strain produces a mutant form of Saa2 and is not susceptible to amyloidosis, as are mice of most other inbred strains. M. caroli, M. spretus and M.m. Czech produce variant Saa2 isoforms and M.m. Czech is also reistant to amyloidosis. GO:0006953;acute-phase response;IEA|GO:0050918;positive chemotaxis;IEA|GO:0060326;cell chemotaxis;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0034364;high-density lipoprotein particle;IEA|GO:0070062;extracellular exosome;IDA GO:0042056;chemoattractant activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SAA2 https://www.uniprot.org/uniprot/P0DJI9 https://www.ncbi.nlm.nih.gov/omim/?term=104751 http://www.informatics.jax.org/searchtool/Search.do?query=SAA2&submit=Quick%0D%6964ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAA2 11_21.322_43.322 Chr11:11392976-25199292 1.269 SAA2-SAA4 ENSG00000255071 SAA2-SAA4 readthrough chr11:18252970-18270182 This locus represents naturally occurring read-through transcription between the neighboring serum amyloid A2 and serum amyloid A4 genes on chromosome 11. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] GO:0050918;positive chemotaxis;IEA|GO:0060326;cell chemotaxis;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA GO:0042056;chemoattractant activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SAA2-SAA4 http://www.informatics.jax.org/searchtool/Search.do?query=SAA2-SAA4&submit=Quick%0D%20105ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAA2-SAA4 11_21.322_43.322 Chr11:11392976-25199292 1.269 SAA4 ENSG00000148965 serum amyloid A4, constitutive chr11:18252896-18258440 Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance; Type 2 Diabetes| edema | rosiglitazone GO:0006953;acute-phase response;IEA|GO:0050918;positive chemotaxis;IEA|GO:0060326;cell chemotaxis;IBA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0034364;high-density lipoprotein particle;IEA|GO:0070062;extracellular exosome;IDA GO:0042056;chemoattractant activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SAA4 https://www.uniprot.org/uniprot/P35542 https://www.ncbi.nlm.nih.gov/omim/?term=104752 http://www.informatics.jax.org/searchtool/Search.do?query=SAA4&submit=Quick%0D%9180ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAA4 11_21.322_43.322 Chr11:11392976-25199292 1.269 SAAL1 ENSG00000166788 serum amyloid A like 1 chr11:18091482-18127638 GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IBA http://www.genecards.org/index.php?path=/Search/keyword/SAAL1 http://www.informatics.jax.org/searchtool/Search.do?query=SAAL1&submit=Quick%0D%11861ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAAL1 20_50.701_78.701 Chr20:25016495-51804476 1.1 SALL4 ENSG00000101115 spalt like transcription factor 4 chr20:50400581-50419059 This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] null; Myocardial Infarction; Brain; smoking cessation; POF - Premature ovarian failure|Primary Ovarian Insufficiency; Tobacco Use Disorder; Cleft Lip|Cleft Palate; male infertility Homozygous mutation of this gene results in early embryonic lethality before somite formation. Heterozygous mutation of this locus causes variable phenotypes, from heart and digit defects to deafness, anogenital tract defects, cranial and carpal bone defects and renal agenesis or hypoplasia. Regulation of PTEN gene transcription GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001833;inner cell mass cell proliferation;IEA|GO:0001843;neural tube closure;IEA|GO:0003281;ventricular septum development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IBA|GO:0007165;signal transduction;IBA|GO:0007507;heart development;IEA|GO:0009888;tissue development;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0021915;neural tube development;IEA|GO:0022008;neurogenesis;IBA|GO:0030326;embryonic limb morphogenesis;IEA|GO:0035019;somatic stem cell population maintenance;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA GO:0000792;heterochromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043234;protein complex;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0043565;sequence-specific DNA binding;IBA|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SALL4 https://www.uniprot.org/uniprot/Q9UJQ4 https://hpo.jax.org/app/browse/search?q=SALL4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=607343 http://www.informatics.jax.org/searchtool/Search.do?query=SALL4&submit=Quick%0D%2653ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SALL4 19_20.212_38.212 Chr19:6565245-15124834 0.429 SAMD1 ENSG00000141858 sterile alpha motif domain containing 1 chr19:14198652-14201848 http://www.genecards.org/index.php?path=/Search/keyword/SAMD1 https://www.uniprot.org/uniprot/E9PIW9 http://www.informatics.jax.org/searchtool/Search.do?query=SAMD1&submit=Quick%0D%8227ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMD1 20_50.701_78.701 Chr20:25016495-51804476 1.1 SAMHD1 ENSG00000101347 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 chr20:35518632-35580246 This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010] Aicardi-Goutieres syndrome Mice homozygous for a knock-out allele exhibit increased susceptibility to infection with pseudotyped HIV-1. Interferon alpha/beta signaling GO:0002376;immune system process;IEA|GO:0006203;dGTP catabolic process;IDA|GO:0006955;immune response;NAS|GO:0008152;metabolic process;IEA|GO:0009264;deoxyribonucleotide catabolic process;TAS|GO:0045087;innate immune response;IEA|GO:0045088;regulation of innate immune response;IMP|GO:0046061;dATP catabolic process;IDA|GO:0051289;protein homotetramerization;IDA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS|GO:0090501;RNA phosphodiester bond hydrolysis;IEA GO:0005622;intracellular;NAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005886;plasma membrane;IDA GO:0003676;nucleic acid binding;IDA|GO:0003723;RNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004540;ribonuclease activity;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0008832;dGTPase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016793;triphosphoric monoester hydrolase activity;EXP|GO:0032567;dGTP binding;IDA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SAMHD1 https://www.uniprot.org/uniprot/Q9Y3Z3 https://hpo.jax.org/app/browse/search?q=SAMHD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606754 http://www.informatics.jax.org/searchtool/Search.do?query=SAMHD1&submit=Quick%0D%2717ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SAMHD1 22_57.194_74.694 Chr22:45430165-51215481 0.519 SBF1 ENSG00000100241 SET binding factor 1 chr22:50883429-50913454 This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Azoospermia|Infertility, Male|Oligospermia; hypertension Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells. RAB GEFs exchange GTP for GDP on RABs GO:0006470;protein dephosphorylation;TAS|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007283;spermatogenesis;IEA|GO:0043087;regulation of GTPase activity;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0061024;membrane organization;TAS GO:0005634;nucleus;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0005829;cytosol;TAS|GO:0016021;integral component of membrane;TAS GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS|GO:0019208;phosphatase regulator activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SBF1 https://www.uniprot.org/uniprot/O95248 https://hpo.jax.org/app/browse/search?q=SBF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603560 http://www.informatics.jax.org/searchtool/Search.do?query=SBF1&submit=Quick%0D%2445ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SBF1 20_50.701_78.701 Chr20:25016495-51804476 1.1 SCAND1 ENSG00000171222 SCAN domain containing 1 chr20:34541539-34547394 This gene encodes a SCAN box domain-containing protein. The SCAN domain is a highly conserved, leucine-rich motif of approximately 60 aa originally found within a subfamily of zinc finger proteins. This gene belongs to a family of genes that encode an isolated SCAN domain, but no zinc finger motif. This protein binds to and may regulate the function of the transcription factor myeloid zinc finger 1B. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] plasma HDL cholesterol (HDL-C) levels GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IDA GO:0003700;transcription factor activity, sequence-specific DNA binding;ISS|GO:0003713;transcription coactivator activity;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SCAND1 https://www.ncbi.nlm.nih.gov/omim/?term=610416 http://www.informatics.jax.org/searchtool/Search.do?query=SCAND1&submit=Quick%0D%12882ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCAND1 22_57.194_74.694 Chr22:45430165-51215481 0.519 SCO2 ENSG00000284194 SCO2, cytochrome c oxidase assembly protein chr22:50961997-50964868 Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014] Type 2 Diabetes| edema | rosiglitazone; hypertrophic cardiomyopathy and cytochrome c oxidase deficiency Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for a knock-out allele and a knock-in allele exhibit muscle weakness and reduced exercise endurance. Respiratory electron transport GO:0001654;eye development;IMP|GO:0006825;copper ion transport;IEA|GO:0006878;cellular copper ion homeostasis;IEA|GO:0008535;respiratory chain complex IV assembly;IEA|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;TAS GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005759;mitochondrial matrix;TAS|GO:0030016;myofibril;IDA GO:0005507;copper ion binding;NAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCO2 https://www.uniprot.org/uniprot/O43819 https://hpo.jax.org/app/browse/search?q=SCO2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604272 http://www.informatics.jax.org/searchtool/Search.do?query=SCO2&submit=Quick%0D%22944ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCO2 2_187.744_190.744 Chr2:174108399-175872495 0.223 SCRN3 ENSG00000144306 secernin 3 chr2:175260458-175294303 GO:0006508;proteolysis;IEA|GO:0006887;exocytosis;IBA GO:0016805;dipeptidase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SCRN3 https://www.uniprot.org/uniprot/Q0VDG4 https://www.ncbi.nlm.nih.gov/omim/?term=614967 http://www.informatics.jax.org/searchtool/Search.do?query=SCRN3&submit=Quick%0D%8591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SCRN3 20_50.701_78.701 Chr20:25016495-51804476 1.1 SDC4 ENSG00000124145 syndecan 4 chr20:43953928-43977064 The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan that functions as a receptor in intracellular signaling. The encoded protein is found as a homodimer and is a member of the syndecan proteoglycan family. This gene is found on chromosome 20, while a pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008] Varicose Ulcer; Cholesterol, LDL; atherosclerosis; Type 2 Diabetes| edema | rosiglitazone; Psoriasis Mice homozygous or heterozygous for a knock-out allele show delayed wound healing and impaired angiogenesis. Homozygotes for a different knock-out allele exhibit degenerated fetal vessels in the placental labyrinth, abnormal cell adhesion, and high susceptibility to induced renal and hepatic injury. Retinoid metabolism and transport GO:0001523;retinoid metabolic process;TAS|GO:0001657;ureteric bud development;IEA|GO:0001843;neural tube closure;IEA|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007165;signal transduction;IEA|GO:0010762;regulation of fibroblast migration;IEA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0042060;wound healing;IEA|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0045860;positive regulation of protein kinase activity;IEA|GO:0050900;leukocyte migration;TAS|GO:0051496;positive regulation of stress fiber assembly;IEA|GO:0051894;positive regulation of focal adhesion assembly;IEA|GO:0060122;inner ear receptor stereocilium organization;IEA|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903553;positive regulation of extracellular exosome assembly;IMP GO:0005576;extracellular region;IEA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0005925;focal adhesion;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043034;costamere;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA GO:0001968;fibronectin binding;IEA|GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0070053;thrombospondin receptor activity;IMP http://www.genecards.org/index.php?path=/Search/keyword/SDC4 https://www.uniprot.org/uniprot/P31431 https://www.ncbi.nlm.nih.gov/omim/?term=600017 http://www.informatics.jax.org/searchtool/Search.do?query=SDC4&submit=Quick%0D%5597ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDC4 16_101.974_110.974 Chr16:79461830-82833302 0.225 SDR42E1 ENSG00000184860 short chain dehydrogenase/reductase family 42E, member 1 chr16:82031221-82045093 GO:0006694;steroid biosynthetic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003854;3-beta-hydroxy-delta5-steroid dehydrogenase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA http://www.genecards.org/index.php?path=/Search/keyword/SDR42E1 https://www.ncbi.nlm.nih.gov/omim/?term=616164 http://www.informatics.jax.org/searchtool/Search.do?query=SDR42E1&submit=Quick%0D%15284ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SDR42E1 20_50.701_78.701 Chr20:25016495-51804476 1.1 SEMG1 ENSG00000124233 semenogelin I chr20:43835638-43838413 The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. This preproprotein is proteolytically processed by the prostate-specific antigen (PSA) protease to generate multiple peptide products that exhibit distinct functions. One of these peptides, SgI-29, is an antimicrobial peptide with antibacterial activity. This proteolysis process also breaks down the gel matrix and allows the spermatozoa to move more freely. This gene and another similar semenogelin gene are present in a gene cluster on chromosome 20. [provided by RefSeq, Feb 2016] Male mice homozygous for a null allele display severely reduced fertility with premature acrosome reaction, absence of copulatory plug formation and intrauterine death of sperm. Amyloid fiber formation GO:0007320;insemination;TAS|GO:0019730;antimicrobial humoral response;TAS|GO:0019731;antibacterial humoral response;IDA|GO:0044267;cellular protein metabolic process;TAS|GO:0050817;coagulation;IDA|GO:0051291;protein heterooligomerization;IDA|GO:0090281;negative regulation of calcium ion import;IDA|GO:1900005;positive regulation of serine-type endopeptidase activity;IMP|GO:1901318;negative regulation of flagellated sperm motility;IDA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/SEMG1 https://www.uniprot.org/uniprot/P04279 https://www.ncbi.nlm.nih.gov/omim/?term=182140 http://www.informatics.jax.org/searchtool/Search.do?query=SEMG1&submit=Quick%0D%5630ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMG1 20_50.701_78.701 Chr20:25016495-51804476 1.1 SEMG2 ENSG00000124157 semenogelin II chr20:43849941-43853099 The secreted protein encoded by this gene is involved in the formation of a gel matrix that encases ejaculated spermatozoa. Proteolysis by the prostate-specific antigen (PSA) breaks down the gel matrix and allows the spermatozoa to move more freely. The encoded protein is found in lesser abundance than a similar semenogelin protein. An antibacterial activity has been found for a antimicrobial peptide isolated from this protein. The genes encoding these two semenogelin proteins are found in a cluster on chromosome 20. [provided by RefSeq, Jan 2015] At this locus, the a allele determines a slow anodally migrating enzyme band and occurs in the B10.AKM/Sn strain; the b allele determines a faster band and occurs in AKR.M/Sn, C3H/He and C57BL/10Orl strains. Heterozygotes have the two parental bands. GO:0019731;antibacterial humoral response;IMP|GO:0050817;coagulation;IDA|GO:0051291;protein heterooligomerization;IDA|GO:1900005;positive regulation of serine-type endopeptidase activity;IDA|GO:1901318;negative regulation of flagellated sperm motility;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0070062;extracellular exosome;IDA GO:0002020;protease binding;IPI|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/SEMG2 https://www.uniprot.org/uniprot/Q02383 https://www.ncbi.nlm.nih.gov/omim/?term=182141 http://www.informatics.jax.org/searchtool/Search.do?query=SEMG2&submit=Quick%0D%5600ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMG2 11_21.322_43.322 Chr11:11392976-25199292 1.269 SERGEF ENSG00000129158 secretion regulating guanine nucleotide exchange factor chr11:17809595-18034709 Hematocrit; Body Height; Hemoglobins GO:0007165;signal transduction;TAS|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050709;negative regulation of protein secretion;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016235;aggresome;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005087;Ran guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SERGEF https://www.uniprot.org/uniprot/Q9UGK8 https://www.ncbi.nlm.nih.gov/omim/?term=606051 http://www.informatics.jax.org/searchtool/Search.do?query=SERGEF&submit=Quick%0D%6219ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SERGEF 20_50.701_78.701 Chr20:25016495-51804476 1.1 SERINC3 ENSG00000132824 serine incorporator 3 chr20:43124862-43150750 Serine biosynthesis GO:0002376;immune system process;IEA|GO:0006564;L-serine biosynthetic process;TAS|GO:0006658;phosphatidylserine metabolic process;IEA|GO:0006665;sphingolipid metabolic process;IEA|GO:0009597;detection of virus;IDA|GO:0015825;L-serine transport;IEA|GO:0045087;innate immune response;IDA|GO:0051607;defense response to virus;IDA|GO:1902237;positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;IEA GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0015194;L-serine transmembrane transporter activity;IEA|GO:1905361;L-serine transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SERINC3 https://www.uniprot.org/uniprot/Q13530 https://www.ncbi.nlm.nih.gov/omim/?term=607165 http://www.informatics.jax.org/searchtool/Search.do?query=SERINC3&submit=Quick%0D%6748ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SERINC3 20_50.701_78.701 Chr20:25016495-51804476 1.1 SGK2 ENSG00000101049 SGK2, serine/threonine kinase 2 chr20:42187608-42216877 This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] Stimuli-sensing channels GO:0001558;regulation of cell growth;TAS|GO:0006468;protein phosphorylation;NAS|GO:0006979;response to oxidative stress;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032411;positive regulation of transporter activity;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0035556;intracellular signal transduction;TAS|GO:0042127;regulation of cell proliferation;TAS|GO:0042981;regulation of apoptotic process;IBA GO:0005575;cellular_component;ND|GO:0005622;intracellular;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005246;calcium channel regulator activity;IBA|GO:0005524;ATP binding;IEA|GO:0015459;potassium channel regulator activity;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017080;sodium channel regulator activity;NAS|GO:0017081;chloride channel regulator activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SGK2 https://www.uniprot.org/uniprot/Q9HBY8 https://www.ncbi.nlm.nih.gov/omim/?term=607589 http://www.informatics.jax.org/searchtool/Search.do?query=SGK2&submit=Quick%0D%2642ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SGK2 19_20.212_38.212 Chr19:6565245-15124834 0.429 SH2D3A ENSG00000125731 SH2 domain containing 3A chr19:6752171-6767599 GO:0007254;JNK cascade;TAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA GO:0005622;intracellular;IEA GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SH2D3A https://www.uniprot.org/uniprot/Q9BRG2 https://www.ncbi.nlm.nih.gov/omim/?term=604721 http://www.informatics.jax.org/searchtool/Search.do?query=SH2D3A&submit=Quick%0D%5819ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH2D3A 4_17.387_23.387 Chr4:7152608-8704080 0.68 SH3TC1 ENSG00000125089 SH3 domain and tetratricopeptide repeats 1 chr4:8183799-8243530 Tobacco Use Disorder; Celiac Disease| GO:0008150;biological_process;ND GO:0005575;cellular_component;ND http://www.genecards.org/index.php?path=/Search/keyword/SH3TC1 https://www.uniprot.org/uniprot/Q8TE82 http://www.informatics.jax.org/searchtool/Search.do?query=SH3TC1&submit=Quick%0D%5738ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3TC1 22_57.194_74.694 Chr22:45430165-51215481 0.519 SHANK3 ENSG00000283243 SH3 and multiple ankyrin repeat domains 3 chr22:51112843-51171726 This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012] Autism; prostate cancer; schizophrenia | autism; cognitive ability; autism Mice carrying various deletions of exons encoding the ankyrin repeats (exons 4-9) exhibit a range of RET signaling GO:0000165;MAPK cascade;ISS|GO:0007411;axon guidance;TAS|GO:0007416;synapse assembly;ISS|GO:0007612;learning;IMP|GO:0007613;memory;ISS|GO:0021773;striatal medium spiny neuron differentiation;ISS|GO:0030534;adult behavior;IMP|GO:0032232;negative regulation of actin filament bundle assembly;ISS|GO:0035176;social behavior;IMP|GO:0042297;vocal learning;IMP|GO:0045794;negative regulation of cell volume;ISS|GO:0048170;positive regulation of long-term neuronal synaptic plasticity;ISS|GO:0048854;brain morphogenesis;ISS|GO:0051835;positive regulation of synapse structural plasticity;ISS|GO:0051968;positive regulation of synaptic transmission, glutamatergic;ISS|GO:0060997;dendritic spine morphogenesis;ISS|GO:0060999;positive regulation of dendritic spine development;ISS|GO:0061001;regulation of dendritic spine morphogenesis;ISS|GO:0071625;vocalization behavior;IMP|GO:0097107;postsynaptic density assembly;ISS|GO:0097113;AMPA glutamate receptor clustering;ISS|GO:0097114;NMDA glutamate receptor clustering;ISS|GO:0097117;guanylate kinase-associated protein clustering;ISS|GO:1900271;regulation of long-term synaptic potentiation;ISS|GO:1900273;positive regulation of long-term synaptic potentiation;ISS|GO:1900451;positive regulation of glutamate receptor signaling pathway;ISS|GO:1900452;regulation of long term synaptic depression;ISS|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS|GO:2000969;positive regulation of AMPA receptor activity;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;ISS|GO:0043197;dendritic spine;IEA|GO:0044309;neuron spine;ISS|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0060170;ciliary membrane;ISS GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;ISS|GO:0008270;zinc ion binding;ISS|GO:0017124;SH3 domain binding;IEA|GO:0030160;GKAP/Homer scaffold activity;ISS|GO:0035255;ionotropic glutamate receptor binding;ISS|GO:0043621;protein self-association;ISS|GO:0097110;scaffold protein binding;ISS http://www.genecards.org/index.php?path=/Search/keyword/SHANK3 https://hpo.jax.org/app/browse/search?q=SHANK3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606230 http://www.informatics.jax.org/searchtool/Search.do?query=SHANK3&submit=Quick%0D%22711ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SHANK3 20_50.701_78.701 Chr20:25016495-51804476 1.1 SLA2 ENSG00000101082 Src like adaptor 2 chr20:35240721-35274619 This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Mice homozygous for a knock-out allele exhibit normal B and T cells. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0009967;positive regulation of signal transduction;IEA|GO:0016477;cell migration;IBA|GO:0019724;B cell mediated immunity;TAS|GO:0030154;cell differentiation;IBA|GO:0030522;intracellular receptor signaling pathway;TAS|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042110;T cell activation;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA|GO:0050776;regulation of immune response;NAS|GO:0050849;negative regulation of calcium-mediated signaling;IDA|GO:0050851;antigen receptor-mediated signaling pathway;TAS|GO:0050869;negative regulation of B cell activation;TAS GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005770;late endosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IEA|GO:0010008;endosome membrane;NAS|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0031410;cytoplasmic vesicle;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0004715;non-membrane spanning protein tyrosine kinase activity;IBA|GO:0005070;SH3/SH2 adaptor activity;IDA|GO:0005102;receptor binding;IBA|GO:0005515;protein binding;IPI|GO:0047485;protein N-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SLA2 https://www.uniprot.org/uniprot/Q9H6Q3 https://www.ncbi.nlm.nih.gov/omim/?term=606577 http://www.informatics.jax.org/searchtool/Search.do?query=SLA2&submit=Quick%0D%2647ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLA2 20_50.701_78.701 Chr20:25016495-51804476 1.1 SLC12A5 ENSG00000124140 solute carrier family 12 member 5 chr20:44650356-44688784 K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008] BMI; Tobacco Use Disorder; Cleft Lip|Cleft Palate|Tooth Abnormalities; diabetes, type 2 Mice homozygous for disruptions in this gene die within a few minutes of birth of respiratory failure resulting from a motor nerve defect. Mice homozygous for a hypomorphic allele display postnatal lethality and tonic-clonic seizures. Cation-coupled Chloride cotransporters GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006813;potassium ion transport;IEA|GO:0006821;chloride transport;IEA|GO:0006873;cellular ion homeostasis;NAS|GO:0007268;chemical synaptic transmission;IEA|GO:0007612;learning;IEA|GO:0030644;cellular chloride ion homeostasis;IDA|GO:0035264;multicellular organism growth;IEA|GO:0040040;thermosensory behavior;IEA|GO:0042493;response to drug;IEA|GO:0055085;transmembrane transport;IEA|GO:0060996;dendritic spine development;IDA|GO:0071805;potassium ion transmembrane transport;IEA|GO:1902476;chloride transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA GO:0005215;transporter activity;IEA|GO:0015108;chloride transmembrane transporter activity;IDA|GO:0015293;symporter activity;IEA|GO:0015377;cation:chloride symporter activity;IEA|GO:0015379;potassium:chloride symporter activity;TAS|GO:0022820;potassium ion symporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC12A5 https://www.uniprot.org/uniprot/Q9H2X9 https://hpo.jax.org/app/browse/search?q=SLC12A5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606726 http://www.informatics.jax.org/searchtool/Search.do?query=SLC12A5&submit=Quick%0D%5595ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC12A5 20_50.701_78.701 Chr20:25016495-51804476 1.1 SLC13A3 ENSG00000158296 solute carrier family 13 member 3 chr20:45186463-45304714 Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008] Body Height; diabetes, type 2 Sodium-coupled sulphate, di- and tri-carboxylate transporters GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006835;dicarboxylic acid transport;IEA|GO:0015746;citrate transport;IBA|GO:0055085;transmembrane transport;IEA|GO:0071422;succinate transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005215;transporter activity;IEA|GO:0015137;citrate transmembrane transporter activity;IBA|GO:0015141;succinate transmembrane transporter activity;IBA|GO:0015293;symporter activity;IEA|GO:0015362;high-affinity sodium:dicarboxylate symporter activity;TAS|GO:0017153;sodium:dicarboxylate symporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC13A3 https://www.ncbi.nlm.nih.gov/omim/?term=606411 http://www.informatics.jax.org/searchtool/Search.do?query=SLC13A3&submit=Quick%0D%10191ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC13A3 11_21.322_43.322 Chr11:11392976-25199292 1.269 SLC17A6 ENSG00000091664 solute carrier family 17 member 6 chr11:22359643-22401049 several psychiatric disorders; Weight Gain; Schizophrenia; prostate cancer; Parkinson Disease Mice homozygous for null mutations display neonatal lethality, respiratory failure, and abnormal nervous system physiology. Heterozygous mice for one allele display abnormal miniature EPSC and reduced responses to neuropathic pain. Organic anion transporters GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006814;sodium ion transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IBA|GO:0098700;neurotransmitter loading into synaptic vesicle;IMP GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030672;synaptic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IEA|GO:0045202;synapse;IEA|GO:0098793;presynapse;IEA GO:0005313;L-glutamate transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC17A6 https://www.uniprot.org/uniprot/Q9P2U8 https://www.ncbi.nlm.nih.gov/omim/?term=607563 http://www.informatics.jax.org/searchtool/Search.do?query=SLC17A6&submit=Quick%0D%2162ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC17A6 19_20.212_38.212 Chr19:6565245-15124834 0.429 SLC1A6 ENSG00000105143 solute carrier family 1 member 6 chr19:15060846-15133802 Hyperparathyroidism, Secondary; several psychiatric disorders; schizophrenia; Weight Gain; Blood Pressure Determination Mice homozygous for disruptions in this gene survive well and display no obvious abnormalities of behavior or brain structure. Transport of inorganic cations/anions and amino acids/oligopeptides GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0014047;glutamate secretion;TAS|GO:0015810;aspartate transport;TAS|GO:0015813;L-glutamate transport;TAS|GO:0042391;regulation of membrane potential;IEA|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IEA|GO:0089712;L-aspartate transmembrane transport;IEA GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045111;intermediate filament cytoskeleton;IDA GO:0005313;L-glutamate transmembrane transporter activity;IEA|GO:0005314;high-affinity glutamate transmembrane transporter activity;TAS|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015183;L-aspartate transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC1A6 https://www.uniprot.org/uniprot/P48664 https://www.ncbi.nlm.nih.gov/omim/?term=600637 http://www.informatics.jax.org/searchtool/Search.do?query=SLC1A6&submit=Quick%0D%3240ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC1A6 16_129.974_134.474 Chr16:87933002-90108832 0.174 SLC22A31 ENSG00000259803 solute carrier family 22 member 31 chr16:89262406-89268072 GO:0055085;transmembrane transport;IEA GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0022857;transmembrane transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC22A31 http://www.informatics.jax.org/searchtool/Search.do?query=SLC22A31&submit=Quick%0D%20352ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC22A31 20_50.701_78.701 Chr20:25016495-51804476 1.1 SLC2A10 ENSG00000197496 solute carrier family 2 member 10 chr20:45338126-45364965 This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq, Dec 2009] diabetes, type 2; Body Fat Distribution; insulin; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Type 2 diabetes Mice carrying ENU-induced mutations in this gene display thickening and aberrant vessel wall shape of large and medium size arteries, with significantly increased elastic fiber number and size. Cerebral arteries appear normal with no evidence of tortuosity, stenosis/dilatation or aneurysm. Cellular hexose transport GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0015758;glucose transport;NAS|GO:0015992;proton transport;IEA|GO:0035428;hexose transmembrane transport;IBA|GO:0046323;glucose import;IBA|GO:0055085;transmembrane transport;IEA|GO:1904659;glucose transmembrane transport;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0012505;endomembrane system;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005215;transporter activity;IEA|GO:0005351;sugar:proton symporter activity;NAS|GO:0005355;glucose transmembrane transporter activity;IBA|GO:0022857;transmembrane transporter activity;IEA|GO:0022891;substrate-specific transmembrane transporter activity;IEA|GO:0055056;D-glucose transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC2A10 https://hpo.jax.org/app/browse/search?q=SLC2A10&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=606145 http://www.informatics.jax.org/searchtool/Search.do?query=SLC2A10&submit=Quick%0D%16642ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC2A10 20_50.701_78.701 Chr20:25016495-51804476 1.1 SLC32A1 ENSG00000101438 solute carrier family 32 member 1 chr20:37353105-37358015 The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008] alcohol consumption Homozygous null mice been independently reported to die perinatally exhibiting a hunched posture, respiratory failure, cleft secondary palate due to failure of palate shelf elevation, umbilical hernia or omphalocele, and loss of neurotransmitter release in both GABAergic and glycinergic neurons. GABA synthesis, release, reuptake and degradation GO:0003333;amino acid transmembrane transport;IBA|GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0007269;neurotransmitter secretion;TAS|GO:0007568;aging;IEA|GO:0015812;gamma-aminobutyric acid transport;IEA|GO:0015816;glycine transport;IEA|GO:0015837;amine transport;IEA|GO:0021766;hippocampus development;IEA|GO:0098700;neurotransmitter loading into synaptic vesicle;IEA GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030285;integral component of synaptic vesicle membrane;IEA|GO:0030425;dendrite;IDA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030672;synaptic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0043005;neuron projection;IDA|GO:0043229;intracellular organelle;IEA|GO:0044292;dendrite terminus;IEA|GO:0044306;neuron projection terminus;IDA|GO:0044316;cone cell pedicle;IEA|GO:0045202;synapse;IEA|GO:0048786;presynaptic active zone;IEA|GO:0051286;cell tip;IEA|GO:0060077;inhibitory synapse;IEA|GO:0061202;clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane;TAS GO:0005276;vesicular hydrogen:amino acid antiporter activity;TAS|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015187;glycine transmembrane transporter activity;IEA|GO:0015495;gamma-aminobutyric acid:proton symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC32A1 https://www.uniprot.org/uniprot/Q9H598 https://www.ncbi.nlm.nih.gov/omim/?term=616440 http://www.informatics.jax.org/searchtool/Search.do?query=SLC32A1&submit=Quick%0D%2736ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC32A1 20_50.701_78.701 Chr20:25016495-51804476 1.1 SLC35C2 ENSG00000080189 solute carrier family 35 member C2 chr20:44978167-44993043 This gene encodes a member of the triose-phosphate transporter protein family. This gene is regulated by oxygen tension, is induced in hypoxic trophoblast cells, and is overexpressed in ovarian cancer. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013] Attention Deficit Disorder with Hyperactivity GO:0006810;transport;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0036065;fucosylation;IEA|GO:0036066;protein O-linked fucosylation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA GO:0005654;nucleoplasm;IDA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005801;cis-Golgi network;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35C2 https://www.uniprot.org/uniprot/Q9NQQ7 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35C2&submit=Quick%0D%1722ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35C2 12_78.016_106.016 Chr12:64973018-92996828 1.299 SLC35E3 ENSG00000175782 solute carrier family 35 member E3 chr12:69139886-69187508 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC35E3 http://www.informatics.jax.org/searchtool/Search.do?query=SLC35E3&submit=Quick%0D%13753ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35E3 19_20.212_38.212 Chr19:6565245-15124834 0.429 SLC44A2 ENSG00000129353 solute carrier family 44 member 2 chr19:10713133-10755235 Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss. Neutrophil degranulation GO:0006656;phosphatidylcholine biosynthetic process;TAS|GO:0006810;transport;IEA|GO:0007165;signal transduction;IEA|GO:0015871;choline transport;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0043312;neutrophil degranulation;TAS|GO:0055085;transmembrane transport;TAS GO:0005765;lysosomal membrane;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070062;extracellular exosome;IDA GO:0004871;signal transducer activity;IMP|GO:0015220;choline transmembrane transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/SLC44A2 https://www.uniprot.org/uniprot/Q8IWA5 https://www.ncbi.nlm.nih.gov/omim/?term=606106 http://www.informatics.jax.org/searchtool/Search.do?query=SLC44A2&submit=Quick%0D%6243ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC44A2 12_78.016_106.016 Chr12:64973018-92996828 1.299 SLC6A15 ENSG00000072041 solute carrier family 6 member 15 chr12:85253492-85307394 This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] Mice homozygous for a null allele exhibit decreased synaptosome transport activities but exhibit no behavioral abnormalities. Na+/Cl- dependent neurotransmitter transporters GO:0003333;amino acid transmembrane transport;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006865;amino acid transport;TAS|GO:0015804;neutral amino acid transport;IDA|GO:0015820;leucine transport;IEA|GO:0015824;proline transport;IEA|GO:0035524;proline transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005298;proline:sodium symporter activity;IEA|GO:0005326;neurotransmitter transporter activity;NAS|GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015171;amino acid transmembrane transporter activity;TAS|GO:0015293;symporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A15 https://www.uniprot.org/uniprot/Q9H2J7 https://www.ncbi.nlm.nih.gov/omim/?term=607971 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A15&submit=Quick%0D%1414ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A15 11_21.322_43.322 Chr11:11392976-25199292 1.269 SLC6A5 ENSG00000165970 solute carrier family 6 member 5 chr11:20620946-20680831 This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] several psychiatric disorders; Hyperparathyroidism, Secondary; alcohol; schizophrenia; Hemoglobin A, Glycosylated Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth. Na+/Cl- dependent neurotransmitter transporters GO:0006810;transport;TAS|GO:0006836;neurotransmitter transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0015816;glycine transport;IEA|GO:0036233;glycine import;IDA|GO:0055085;transmembrane transport;IEA|GO:0060012;synaptic transmission, glycinergic;IMP GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS GO:0005328;neurotransmitter:sodium symporter activity;IEA|GO:0015187;glycine transmembrane transporter activity;IEA|GO:0015293;symporter activity;IEA|GO:0015375;glycine:sodium symporter activity;TAS|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLC6A5 https://hpo.jax.org/app/browse/search?q=SLC6A5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604159 http://www.informatics.jax.org/searchtool/Search.do?query=SLC6A5&submit=Quick%0D%11667ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC6A5 20_50.701_78.701 Chr20:25016495-51804476 1.1 SLC9A8 ENSG00000197818 solute carrier family 9 member A8 chr20:48429250-48508779 Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009] Mice homozygous for a gene trap allele exhibit male infertility, impaired mucin synthesis and bicarbonate secretion in the colon, abnormal blood coagulation and increased length of the small intestine, cecum and ileum crypts. Sodium/Proton exchangers GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006812;cation transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006814;sodium ion transport;IEA|GO:0006885;regulation of pH;IEA|GO:0035725;sodium ion transmembrane transport;IEA|GO:0051453;regulation of intracellular pH;IBA|GO:0055085;transmembrane transport;IEA|GO:0071805;potassium ion transmembrane transport;IBA|GO:1902600;hydrogen ion transmembrane transport;IEA GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0015297;antiporter activity;IEA|GO:0015299;solute:proton antiporter activity;IEA|GO:0015385;sodium:proton antiporter activity;TAS|GO:0015386;potassium:proton antiporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/SLC9A8 https://www.ncbi.nlm.nih.gov/omim/?term=612730 http://www.informatics.jax.org/searchtool/Search.do?query=SLC9A8&submit=Quick%0D%16725ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC9A8 20_50.701_78.701 Chr20:25016495-51804476 1.1 SLPI ENSG00000124107 secretory leukocyte peptidase inhibitor chr20:43880880-43883205 This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes. This antimicrobial protein has antibacterial, antifungal and antiviral activity. [provided by RefSeq, Nov 2014] Homozygous null mice been independently reported to exhibit increased susceptibility to LPS-induced endotoxin shock with elevated production of IL-6, impaired cutaneous wound healing with increased inflammation and elastase activity, and high susceptibility to pulmonary mycobacterial infection. Neutrophil degranulation GO:0002376;immune system process;IEA|GO:0006955;immune response;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0019731;antibacterial humoral response;IEA|GO:0032091;negative regulation of protein binding;IDA|GO:0032496;response to lipopolysaccharide;IEA|GO:0042742;defense response to bacterium;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005794;Golgi apparatus;IDA|GO:0031012;extracellular matrix;IDA|GO:0035580;specific granule lumen;TAS|GO:0070062;extracellular exosome;IDA GO:0004866;endopeptidase inhibitor activity;TAS|GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SLPI https://www.uniprot.org/uniprot/P03973 https://www.ncbi.nlm.nih.gov/omim/?term=107285 http://www.informatics.jax.org/searchtool/Search.do?query=SLPI&submit=Quick%0D%5590ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SLPI 19_20.212_38.212 Chr19:6565245-15124834 0.429 SMARCA4 ENSG00000127616 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 chr19:11071598-11176071 The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] Coronary Artery Disease; Waist-Hip Ratio; Myocardial Infarction; Type 2 Diabetes| edema | rosiglitazone; plasma HDL cholesterol (HDL-C) levels; Cardiovascular Diseases; Coronary Disease; breast cancer ; Lipid Metabolism; Eosinophils; Lipoproteins, LDL; Cholesterol, LDL Homozygotes for a null allele die in utero before implantation. Embryos heterozygous for this null allele and an ENU-induced allele show impaired definitive erythropoiesis, anemia and lethality during organogenesis. Heterozygotes for a different null allele show cyanosis and cardiovascular defects. RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0003407;neural retina development;IEP|GO:0006325;chromatin organization;TAS|GO:0006337;nucleosome disassembly;IDA|GO:0006338;chromatin remodeling;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007070;negative regulation of transcription from RNA polymerase II promoter during mitotic cell cycle;TAS|GO:0007399;nervous system development;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IMP|GO:0030308;negative regulation of cell growth;IMP|GO:0043044;ATP-dependent chromatin remodeling;IDA|GO:0043923;positive regulation by host of viral transcription;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0060766;negative regulation of androgen receptor signaling pathway;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IMP|GO:1902661;positive regulation of glucose mediated signaling pathway;IDA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;TAS GO:0000790;nuclear chromatin;IDA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IDA|GO:0016514;SWI/SNF complex;IDA|GO:0043234;protein complex;IDA|GO:0071564;npBAF complex;IDA|GO:0071565;nBAF complex;ISS GO:0000166;nucleotide binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IDA|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0001164;RNA polymerase I CORE element sequence-specific DNA binding;IDA|GO:0002039;p53 binding;IPI|GO:0003713;transcription coactivator activity;IMP|GO:0003714;transcription corepressor activity;IDA|GO:0004386;helicase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008094;DNA-dependent ATPase activity;IGI|GO:0008134;transcription factor binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016817;hydrolase activity, acting on acid anhydrides;IEA|GO:0016887;ATPase activity;IEA|GO:0030957;Tat protein binding;IPI|GO:0031492;nucleosomal DNA binding;IDA|GO:0042393;histone binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0050681;androgen receptor binding;IPI|GO:0070182;DNA polymerase binding;IPI|GO:0070577;lysine-acetylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SMARCA4 https://www.uniprot.org/uniprot/P51532 https://hpo.jax.org/app/browse/search?q=SMARCA4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=603254 http://www.informatics.jax.org/searchtool/Search.do?query=SMARCA4&submit=Quick%0D%6061ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCA4 22_57.194_74.694 Chr22:45430165-51215481 0.519 SMC1B ENSG00000077935 structural maintenance of chromosomes 1B chr22:45739944-45809500 SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008] Hemoglobin A, Glycosylated; Azoospermia|Oligospermia; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary Homozygous mutant mice display male and female infertility, abnormal male and female meiosis, and arrest of spematogenesis. Meiotic synapsis GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;IEA|GO:0051276;chromosome organization;IEA|GO:0051321;meiotic cell cycle;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000794;condensed nuclear chromosome;IEA|GO:0000795;synaptonemal complex;IEA|GO:0000800;lateral element;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005694;chromosome;IEA|GO:0005829;cytosol;IDA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0005524;ATP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SMC1B https://www.uniprot.org/uniprot/Q8NDV3 https://www.ncbi.nlm.nih.gov/omim/?term=608685 http://www.informatics.jax.org/searchtool/Search.do?query=SMC1B&submit=Quick%0D%1637ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC1B 20_50.701_78.701 Chr20:25016495-51804476 1.1 SNAI1 ENSG00000124216 snail family transcriptional repressor 1 chr20:48599536-48605423 The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq, Jul 2008] Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Tunica Media; ovarian cancer; breast cancer; Cleft Lip|Cleft Palate Mice homozygous for a knock-out allele exhibit lethality by E8.5, reduced size, and abnormal mesoderm development. Regulation of PTEN gene transcription GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001649;osteoblast differentiation;IEP|GO:0001707;mesoderm formation;IEA|GO:0001837;epithelial to mesenchymal transition;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007498;mesoderm development;IEA|GO:0010718;positive regulation of epithelial to mesenchymal transition;IMP|GO:0010957;negative regulation of vitamin D biosynthetic process;IDA|GO:0016477;cell migration;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0031069;hair follicle morphogenesis;IEA|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0060021;palate development;IEA|GO:0060536;cartilage morphogenesis;IEA|GO:0060707;trophoblast giant cell differentiation;IEA|GO:0060806;negative regulation of cell differentiation involved in embryonic placenta development;IEA|GO:0060972;left/right pattern formation;IEA|GO:0061314;Notch signaling involved in heart development;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:2000810;regulation of bicellular tight junction assembly;IMP GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0019900;kinase binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SNAI1 https://www.uniprot.org/uniprot/O95863 https://www.ncbi.nlm.nih.gov/omim/?term=604238 http://www.informatics.jax.org/searchtool/Search.do?query=SNAI1&submit=Quick%0D%5622ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAI1 16_129.974_134.474 Chr16:87933002-90108832 0.174 SNAI3 ENSG00000185669 snail family transcriptional repressor 3 chr16:88744090-88752901 SNAI3 is a member of the SNAIL gene family, named for the Drosophila snail gene, which plays roles in mesodermal formation during embryogenesis (Katoh and Katoh, 2003 [PubMed 12579345]).[supplied by OMIM, Apr 2009] Mice homozygous for a knock-out allele exhibit no abnormal phenotype. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000982;transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005507;copper ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SNAI3 https://www.ncbi.nlm.nih.gov/omim/?term=612741 http://www.informatics.jax.org/searchtool/Search.do?query=SNAI3&submit=Quick%0D%15464ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAI3 19_20.212_38.212 Chr19:6565245-15124834 0.429 SNAPC2 ENSG00000104976 small nuclear RNA activating complex polypeptide 2 chr19:7985201-7988135 This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] Mice homozygous for a knock-out allele show complete embryonic lethality before implantation associated with abnormal morula morphology, increased cell death, and failure of blastocyst formation. RNA Polymerase III Transcription Initiation From Type 3 Promoter GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006383;transcription from RNA polymerase III promoter;TAS|GO:0009301;snRNA transcription;TAS|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016604;nuclear body;IDA GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/SNAPC2 https://www.uniprot.org/uniprot/Q13487 https://www.ncbi.nlm.nih.gov/omim/?term=605076 http://www.informatics.jax.org/searchtool/Search.do?query=SNAPC2&submit=Quick%0D%3220ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAPC2 20_50.701_78.701 Chr20:25016495-51804476 1.1 SNTA1 ENSG00000101400 syntrophin alpha 1 chr20:31995761-32031698 Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013] Disease Models, Animal|Long QT Syndrome; inherited myopathy; Long QT Syndrome|Sudden Infant Death Mice homozygous for a targeted null allele display impaired astrocyte and neuromuscular synapse morphology. Mice homozygous for another targeted null allele show neither gross histological abnormalities in skeletal muscle nor significant changes in muscle contractile properties. GO:0002027;regulation of heart rate;IMP|GO:0006936;muscle contraction;TAS|GO:0060307;regulation of ventricular cardiac muscle cell membrane repolarization;IMP|GO:0065009;regulation of molecular function;IEA|GO:0086005;ventricular cardiac muscle cell action potential;IMP|GO:1902083;negative regulation of peptidyl-cysteine S-nitrosylation;IMP|GO:1902305;regulation of sodium ion transmembrane transport;IMP GO:0005622;intracellular;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016013;syntrophin complex;TAS|GO:0016020;membrane;IEA|GO:0016328;lateral plasma membrane;TAS|GO:0030054;cell junction;IEA|GO:0031594;neuromuscular junction;IEA|GO:0042383;sarcolemma;IEA|GO:0043234;protein complex;IDA GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0017080;sodium channel regulator activity;IMP|GO:0030165;PDZ domain binding;IEA|GO:0044325;ion channel binding;IPI|GO:0050998;nitric-oxide synthase binding;IPI|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SNTA1 https://www.uniprot.org/uniprot/Q13424 https://hpo.jax.org/app/browse/search?q=SNTA1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601017 http://www.informatics.jax.org/searchtool/Search.do?query=SNTA1&submit=Quick%0D%2727ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNTA1 20_50.701_78.701 Chr20:25016495-51804476 1.1 SNX21 ENSG00000124104 sorting nexin family member 21 chr20:44462449-44471914 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. The specific function of this protein has not been determined. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] GO:0006810;transport;IEA|GO:0015031;protein transport;IEA GO:0005768;endosome;IEA|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;ISS|GO:0008289;lipid binding;IEA|GO:0032266;phosphatidylinositol-3-phosphate binding;ISS|GO:0035091;phosphatidylinositol binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SNX21 https://www.uniprot.org/uniprot/Q969T3 http://www.informatics.jax.org/searchtool/Search.do?query=SNX21&submit=Quick%0D%5589ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SNX21 20_50.701_78.701 Chr20:25016495-51804476 1.1 SOGA1 ENSG00000149639 suppressor of glucose, autophagy associated 1 chr20:35405845-35492089 Arteries; Iron GO:0008286;insulin receptor signaling pathway;ISS|GO:0010506;regulation of autophagy;ISS|GO:0045721;negative regulation of gluconeogenesis;ISS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/SOGA1 https://www.uniprot.org/uniprot/O94964 http://www.informatics.jax.org/searchtool/Search.do?query=SOGA1&submit=Quick%0D%9267ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOGA1 4_17.387_23.387 Chr4:7152608-8704080 0.68 SORCS2 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 chr4:7194265-7744554 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Insulin-Like Growth Factor Binding Protein 4; Heart Diseases; Tobacco Use Disorder; hypertension; prostate cancer; Body Height; Coronary Artery Disease; Insulin; Diabetes Mellitus, Type 2; Waist Circumference; Bipolar Disorder; Luteinizing Hormone; Eosinophils Homozygous inactivation of this gene leads to reduced dopamine levels and dopamine metabolism, dopaminergic hyperinnervation of the frontal cortex, hyperactivity, abnormal behavioral response to amphetamine, and decreased induction of Schwann cell apoptosis following sciatic nerve injury. GO:0007218;neuropeptide signaling pathway;NAS GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0008188;neuropeptide receptor activity;NAS http://www.genecards.org/index.php?path=/Search/keyword/SORCS2 https://www.ncbi.nlm.nih.gov/omim/?term=606284 http://www.informatics.jax.org/searchtool/Search.do?query=SORCS2&submit=Quick%0D%15309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS2 11_21.322_43.322 Chr11:11392976-25199292 1.269 SOX6 ENSG00000110693 SRY-box 6 chr11:15987995-16761138 This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] Osteoporosis; Type 2 Diabetes| edema | rosiglitazone; Fractures, Bone|Osteoporosis; Myocardial Infarction; Tobacco Use Disorder; Fractures, Bone; Carotid Artery Diseases|Plaque, Atherosclerotic; Celiac Disease|; Obesity|Osteoporosis; obesity and osteoporosis; Bone mineral density (hip); Bone Mineral Density; Obesity Homozygotes for null mutations exhibit cardioskeletal myopathy, cardiac blockage, delayed growth, and early postnatal lethality. Deactivation of the beta-catenin transactivating complex GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0000902;cell morphogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007517;muscle organ development;NAS|GO:0009791;post-embryonic development;IEA|GO:0010468;regulation of gene expression;IEA|GO:0016458;gene silencing;IEA|GO:0021778;oligodendrocyte cell fate specification;IEA|GO:0030097;hemopoiesis;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0032332;positive regulation of chondrocyte differentiation;IDA|GO:0042692;muscle cell differentiation;IEA|GO:0045165;cell fate commitment;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048708;astrocyte differentiation;IEA|GO:0048709;oligodendrocyte differentiation;IEA|GO:0048821;erythrocyte development;IEA|GO:0051216;cartilage development;IEA|GO:0055007;cardiac muscle cell differentiation;IEA|GO:0061036;positive regulation of cartilage development;IDA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:2000726;negative regulation of cardiac muscle cell differentiation;IMP|GO:2000741;positive regulation of mesenchymal stem cell differentiation;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046982;protein heterodimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SOX6 https://www.uniprot.org/uniprot/P35712 https://www.ncbi.nlm.nih.gov/omim/?term=607257 http://www.informatics.jax.org/searchtool/Search.do?query=SOX6&submit=Quick%0D%3979ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SOX6 2_187.744_190.744 Chr2:174108399-175872495 0.223 SP3 ENSG00000172845 Sp3 transcription factor chr2:174771187-174830430 This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses the transcription of numerous genes. Transcript variants encoding different isoforms have been described for this gene, and one has been reported to initiate translation from a non-AUG (AUA) start codon. Additional isoforms, resulting from the use of alternate downstream translation initiation sites, have also been noted. A related pseudogene has been identified on chromosome 13. [provided by RefSeq, Feb 2010] Homozygous null mice exhibit a reduced birth body size, skeletal, tooth and hematopoietic defects, and die shortly after birth due to respiratory failure. Homozygous mutant mice bearing a subtle point mutation in the SUMO attachment site show loss of DNAmethylation in sumoylation-deficient MEFs. SUMOylation of transcription factors GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001503;ossification;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001779;natural killer cell differentiation;IEA|GO:0001829;trophectodermal cell differentiation;IEA|GO:0001889;liver development;IEA|GO:0001892;embryonic placenta development;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0016925;protein sumoylation;TAS|GO:0030183;B cell differentiation;IEA|GO:0030217;T cell differentiation;IEA|GO:0030218;erythrocyte differentiation;IEA|GO:0030219;megakaryocyte differentiation;IEA|GO:0030224;monocyte differentiation;IEA|GO:0030324;lung development;IEA|GO:0030851;granulocyte differentiation;IEA|GO:0043353;enucleate erythrocyte differentiation;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IGI|GO:0048596;embryonic camera-type eye morphogenesis;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0060136;embryonic process involved in female pregnancy;IEA|GO:0060216;definitive hemopoiesis;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016605;PML body;IEA|GO:0017053;transcriptional repressor complex;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IDA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0000987;core promoter proximal region sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003690;double-stranded DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SP3 https://www.ncbi.nlm.nih.gov/omim/?term=601804 http://www.informatics.jax.org/searchtool/Search.do?query=SP3&submit=Quick%0D%13246ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SP3 2_187.744_190.744 Chr2:174108399-175872495 0.223 SP9 ENSG00000217236 Sp9 transcription factor chr2:175199674-175203220 Mice homozygous for a knock-out allele fail to thrive and exhibit general weakness and postnatal lethality associated with striatum atrophy and loss of striatopallidal medium-sized spiny neurons (MSNs) due to decreased proliferation of striatopallidal MSN progenitors and increased apoptosis. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0030326;embryonic limb morphogenesis;IEA GO:0005634;nucleus;IEA GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SP9 http://www.informatics.jax.org/searchtool/Search.do?query=SP9&submit=Quick%0D%18374ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SP9 20_50.701_78.701 Chr20:25016495-51804476 1.1 SPAG4 ENSG00000061656 sperm associated antigen 4 chr20:34203814-34208971 The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Mice homozygous for a knock-out allele show disrupted spermiogenesis, severe defects in sperm head formation, abnormal manchette morphology, globozoospermia, and male infertility. GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;TAS|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IEA|GO:0005637;nuclear inner membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031514;motile cilium;IEA|GO:0042995;cell projection;IEA GO:0005198;structural molecule activity;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPAG4 https://www.uniprot.org/uniprot/Q9NPE6 https://www.ncbi.nlm.nih.gov/omim/?term=603038 http://www.informatics.jax.org/searchtool/Search.do?query=SPAG4&submit=Quick%0D%1076ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPAG4 20_50.701_78.701 Chr20:25016495-51804476 1.1 SPATA2 ENSG00000158480 spermatogenesis associated 2 chr20:48519928-48532080 psoriasis; Psoriasis Homozygous knockout leads to small testes, oligospermia, asthenozoospermia, reduced male fertility and decreased male germ cell numbers. It also affects necroptosis and increases inflammatory responses. GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPATA2 https://www.ncbi.nlm.nih.gov/omim/?term=607662 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA2&submit=Quick%0D%10211ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA2 20_50.701_78.701 Chr20:25016495-51804476 1.1 SPATA25 ENSG00000149634 spermatogenesis associated 25 chr20:44515128-44516274 The expression of Tsg23 mRNA was considerably decreased in a time-dependent manner in the testis of an azoospermic mouse model induced by Busulfan. These data suggest that TSG23/Tsg23 is involved in human and mouse spermatogenesis. GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA GO:0005575;cellular_component;ND|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/SPATA25 https://www.uniprot.org/uniprot/Q9BR10 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA25&submit=Quick%0D%50ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA25 16_129.974_134.474 Chr16:87933002-90108832 0.174 SPATA2L ENSG00000158792 spermatogenesis associated 2 like chr16:89762751-89768113 http://www.genecards.org/index.php?path=/Search/keyword/SPATA2L http://www.informatics.jax.org/searchtool/Search.do?query=SPATA2L&submit=Quick%0D%10250ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA2L 16_129.974_134.474 Chr16:87933002-90108832 0.174 SPATA33 ENSG00000167523 spermatogenesis associated 33 chr16:89724210-89737680 GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPATA33 https://www.ncbi.nlm.nih.gov/omim/?term=615409 http://www.informatics.jax.org/searchtool/Search.do?query=SPATA33&submit=Quick%0D%12027ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPATA33 19_20.212_38.212 Chr19:6565245-15124834 0.429 SPC24 ENSG00000161888 SPC24, NDC80 kinetochore complex component chr19:11242196-11266484 Myocardial Infarction Mitotic Prometaphase GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0051301;cell division;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IEA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;TAS|GO:0031262;Ndc80 complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SPC24 https://www.ncbi.nlm.nih.gov/omim/?term=609394 http://www.informatics.jax.org/searchtool/Search.do?query=SPC24&submit=Quick%0D%10616ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPC24 16_129.974_134.474 Chr16:87933002-90108832 0.174 SPG7 ENSG00000197912 SPG7, paraplegin matrix AAA peptidase subunit chr16:89557325-89624176 This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014] Lipoproteins, VLDL; Motor Neuron Disease|Paraparesis, Spastic; Acquired Immunodeficiency Syndrome|Disease Progression; multiple sclerosis; Chronic renal failure|Kidney Failure, Chronic; Hemoglobin A, Glycosylated Homozygous null mice exhibit impaired motor skills, putativley associated with axonal degeneration in the central and peripheral nervous systems. Processing of SMDT1 GO:0006508;proteolysis;TAS|GO:0006851;mitochondrial calcium ion transport;TAS|GO:0007005;mitochondrion organization;IEA|GO:0007399;nervous system development;TAS|GO:0008089;anterograde axonal transport;IEA GO:0005739;mitochondrion;TAS|GO:0005743;mitochondrial inner membrane;TAS|GO:0005745;m-AAA complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA|GO:1904115;axon cytoplasm;IEA GO:0000166;nucleotide binding;IEA|GO:0004222;metalloendopeptidase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;TAS|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051082;unfolded protein binding;TAS http://www.genecards.org/index.php?path=/Search/keyword/SPG7 https://hpo.jax.org/app/browse/search?q=SPG7&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602783 http://www.informatics.jax.org/searchtool/Search.do?query=SPG7&submit=Quick%0D%16752ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPG7 20_50.701_78.701 Chr20:25016495-51804476 1.1 SPINT3 ENSG00000101446 serine peptidase inhibitor, Kunitz type 3 chr20:44141101-44144264 GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPINT3 https://www.uniprot.org/uniprot/P49223 https://www.ncbi.nlm.nih.gov/omim/?term=613941 http://www.informatics.jax.org/searchtool/Search.do?query=SPINT3&submit=Quick%0D%2744ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPINT3 20_50.701_78.701 Chr20:25016495-51804476 1.1 SPINT4 ENSG00000149651 serine peptidase inhibitor, Kunitz type 4 chr20:44350990-44354469 GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPINT4 https://www.uniprot.org/uniprot/Q6UDR6 http://www.informatics.jax.org/searchtool/Search.do?query=SPINT4&submit=Quick%0D%9269ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPINT4 16_129.974_134.474 Chr16:87933002-90108832 0.174 SPIRE2 ENSG00000204991 spire type actin nucleation factor 2 chr16:89884587-89937727 GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;ISS|GO:0030036;actin cytoskeleton organization;IMP|GO:0036089;cleavage furrow formation;ISS|GO:0040038;polar body extrusion after meiotic divisions;ISS|GO:0045010;actin nucleation;IEA|GO:0046907;intracellular transport;ISS|GO:0051295;establishment of meiotic spindle localization;IMP|GO:0070649;formin-nucleated actin cable assembly;ISS GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;ISS|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0032154;cleavage furrow;ISS|GO:0048471;perinuclear region of cytoplasm;IEA GO:0003779;actin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPIRE2 https://www.ncbi.nlm.nih.gov/omim/?term=609217 http://www.informatics.jax.org/searchtool/Search.do?query=SPIRE2&submit=Quick%0D%17448ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPIRE2 11_21.322_43.322 Chr11:11392976-25199292 1.269 SPON1 ENSG00000262655 spondin 1 chr11:13983914-14289646 Tobacco Use Disorder; Tumor Necrosis Factor-alpha; Triglycerides Mice homozygous for a null allele display increased trabecular and cortical bone mass. O-glycosylation of TSR domain-containing proteins GO:0007155;cell adhesion;IEA|GO:0036066;protein O-linked fucosylation;TAS GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPON1 https://www.ncbi.nlm.nih.gov/omim/?term=604989 http://www.informatics.jax.org/searchtool/Search.do?query=SPON1&submit=Quick%0D%20504ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPON1 11_21.322_43.322 Chr11:11392976-25199292 1.269 SPTY2D1 ENSG00000179119 SPT2 chromatin protein domain containing 1 chr11:18627948-18656338 Oocytes; Cholesterol; Stroke; Coronary Artery Disease GO:0006334;nucleosome assembly;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010847;regulation of chromatin assembly;IMP|GO:0043486;histone exchange;IMP GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA GO:0001042;RNA polymerase I core binding;ISS|GO:0003677;DNA binding;IDA|GO:0042393;histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SPTY2D1 http://www.informatics.jax.org/searchtool/Search.do?query=SPTY2D1&submit=Quick%0D%14295ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTY2D1 11_21.322_43.322 Chr11:11392976-25199292 1.269 SPTY2D1-AS1 ENSG00000247595 chr11:18621334-18631802 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/SPTY2D1-AS1 http://www.informatics.jax.org/searchtool/Search.do?query=SPTY2D1-AS1&submit=Quick%0D%19875ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SPTY2D1-AS1 20_50.701_78.701 Chr20:25016495-51804476 1.1 SRC ENSG00000197122 SRC proto-oncogene, non-receptor tyrosine kinase chr20:35973088-36034453 This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] HIV; Weight Gain; thyroid cancer; Bone Mineral Density Homozygotes for a targeted null mutation exhibit growth retardation, failure of tooth eruption, osteopetrosis with lack of secondary bone resorption, and lethality at 3-4 weeks. Regulation of RUNX3 expression and activity GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007172;signal complex assembly;TAS|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IMP|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IBA|GO:0008283;cell proliferation;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009615;response to virus;IEA|GO:0010447;response to acidic pH;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010632;regulation of epithelial cell migration;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010641;positive regulation of platelet-derived growth factor receptor signaling pathway;IEA|GO:0010907;positive regulation of glucose metabolic process;IEA|GO:0010954;positive regulation of protein processing;IEA|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016032;viral process;IEA|GO:0016236;macroautophagy;TAS|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0016477;cell migration;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0022407;regulation of cell-cell adhesion;IMP|GO:0030168;platelet activation;TAS|GO:0030520;intracellular estrogen receptor signaling pathway;IBA|GO:0030900;forebrain development;IEA|GO:0031295;T cell costimulation;TAS|GO:0031648;protein destabilization;IEA|GO:0031667;response to nutrient levels;IEA|GO:0031954;positive regulation of protein autophosphorylation;IEA|GO:0032148;activation of protein kinase B activity;IEA|GO:0032211;negative regulation of telomere maintenance via telomerase;IMP|GO:0032463;negative regulation of protein homooligomerization;IMP|GO:0032869;cellular response to insulin stimulus;IEA|GO:0033146;regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0033625;positive regulation of integrin activation;TAS|GO:0034332;adherens junction organization;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0034614;cellular response to reactive oxygen species;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0035635;entry of bacterium into host cell;TAS|GO:0036035;osteoclast development;IEA|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043114;regulation of vascular permeability;TAS|GO:0043149;stress fiber assembly;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043393;regulation of protein binding;IEA|GO:0043406;positive regulation of MAP kinase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045056;transcytosis;IEA|GO:0045087;innate immune response;IBA|GO:0045124;regulation of bone resorption;TAS|GO:0045453;bone resorption;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046628;positive regulation of insulin receptor signaling pathway;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IBA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048011;neurotrophin TRK receptor signaling pathway;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048477;oogenesis;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IC|GO:0050847;progesterone receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IMP|GO:0051222;positive regulation of protein transport;IEA|GO:0051385;response to mineralocorticoid;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051726;regulation of cell cycle;IBA|GO:0051895;negative regulation of focal adhesion assembly;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051902;negative regulation of mitochondrial depolarization;IMP|GO:0051974;negative regulation of telomerase activity;IMP|GO:0060065;uterus development;IEA|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0060491;regulation of cell projection assembly;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070542;response to fatty acid;IEA|GO:0070555;response to interleukin-1;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071375;cellular response to peptide hormone stimulus;IEA|GO:0071393;cellular response to progesterone stimulus;IEA|GO:0071398;cellular response to fatty acid;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071498;cellular response to fluid shear stress;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0071801;regulation of podosome assembly;IBA|GO:0071803;positive regulation of podosome assembly;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:0086098;angiotensin-activated signaling pathway involved in heart process;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1902533;positive regulation of intracellular signal transduction;IEA|GO:2000394;positive regulation of lamellipodium morphogenesis;IMP|GO:2000573;positive regulation of DNA biosynthetic process;IEA|GO:2000641;regulation of early endosome to late endosome transport;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IMP|GO:2001286;regulation of caveolin-mediated endocytosis;IMP|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002376;immune system process;IEA|GO:0006468;protein phosphorylation;IEA|GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007172;signal complex assembly;TAS|GO:0007173;epidermal growth factor receptor signaling pathway;TAS|GO:0007179;transforming growth factor beta receptor signaling pathway;IMP|GO:0007229;integrin-mediated signaling pathway;IMP|GO:0007411;axon guidance;TAS|GO:0007417;central nervous system development;IBA|GO:0008283;cell proliferation;IEA|GO:0009612;response to mechanical stimulus;IEA|GO:0009615;response to virus;IEA|GO:0010447;response to acidic pH;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010632;regulation of epithelial cell migration;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010641;positive regulation of platelet-derived growth factor receptor signaling pathway;IEA|GO:0010907;positive regulation of glucose metabolic process;IEA|GO:0010954;positive regulation of protein processing;IEA|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016032;viral process;IEA|GO:0016236;macroautophagy;TAS|GO:0016310;phosphorylation;IEA|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0016477;cell migration;IEA|GO:0018105;peptidyl-serine phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IDA|GO:0022407;regulation of cell-cell adhesion;IMP|GO:0030168;platelet activation;TAS|GO:0030520;intracellular estrogen receptor signaling pathway;IBA|GO:0030900;forebrain development;IEA|GO:0031295;T cell costimulation;TAS|GO:0031648;protein destabilization;IEA|GO:0031667;response to nutrient levels;IEA|GO:0031954;positive regulation of protein autophosphorylation;IEA|GO:0032148;activation of protein kinase B activity;IEA|GO:0032211;negative regulation of telomere maintenance via telomerase;IMP|GO:0032463;negative regulation of protein homooligomerization;IMP|GO:0032869;cellular response to insulin stimulus;IEA|GO:0033146;regulation of intracellular estrogen receptor signaling pathway;IEA|GO:0033625;positive regulation of integrin activation;TAS|GO:0034332;adherens junction organization;IEA|GO:0034446;substrate adhesion-dependent cell spreading;IEA|GO:0034614;cellular response to reactive oxygen species;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0035635;entry of bacterium into host cell;TAS|GO:0036035;osteoclast development;IEA|GO:0036120;cellular response to platelet-derived growth factor stimulus;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0038128;ERBB2 signaling pathway;TAS|GO:0042127;regulation of cell proliferation;IBA|GO:0042493;response to drug;IEA|GO:0042542;response to hydrogen peroxide;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043114;regulation of vascular permeability;TAS|GO:0043149;stress fiber assembly;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0043393;regulation of protein binding;IEA|GO:0043406;positive regulation of MAP kinase activity;IEA|GO:0043552;positive regulation of phosphatidylinositol 3-kinase activity;IEA|GO:0045056;transcytosis;IEA|GO:0045087;innate immune response;IBA|GO:0045124;regulation of bone resorption;TAS|GO:0045453;bone resorption;IEA|GO:0045737;positive regulation of cyclin-dependent protein serine/threonine kinase activity;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0046628;positive regulation of insulin receptor signaling pathway;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IBA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048011;neurotrophin TRK receptor signaling pathway;IEA|GO:0048013;ephrin receptor signaling pathway;TAS|GO:0048477;oogenesis;IEA|GO:0050715;positive regulation of cytokine secretion;IEA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IC|GO:0050847;progesterone receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:0051057;positive regulation of small GTPase mediated signal transduction;IMP|GO:0051222;positive regulation of protein transport;IEA|GO:0051385;response to mineralocorticoid;IEA|GO:0051602;response to electrical stimulus;IEA|GO:0051726;regulation of cell cycle;IBA|GO:0051895;negative regulation of focal adhesion assembly;IEA|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0051902;negative regulation of mitochondrial depolarization;IMP|GO:0051974;negative regulation of telomerase activity;IMP|GO:0060065;uterus development;IEA|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0060491;regulation of cell projection assembly;IEA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0070542;response to fatty acid;IEA|GO:0070555;response to interleukin-1;IMP|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071375;cellular response to peptide hormone stimulus;IEA|GO:0071393;cellular response to progesterone stimulus;IEA|GO:0071398;cellular response to fatty acid;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071498;cellular response to fluid shear stress;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IEA|GO:0071801;regulation of podosome assembly;IBA|GO:0071803;positive regulation of podosome assembly;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IDA|GO:0086098;angiotensin-activated signaling pathway involved in heart process;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1902533;positive regulation of intracellular signal transduction;IEA|GO:2000394;positive regulation of lamellipodium morphogenesis;IMP|GO:2000573;positive regulation of DNA biosynthetic process;IEA|GO:2000641;regulation of early endosome to late endosome transport;IMP|GO:2000811;negative regulation of anoikis;IMP|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IMP|GO:2001286;regulation of caveolin-mediated endocytosis;IMP GO:0002102;podosome;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005764;lysosome;IDA|GO:0005770;late endosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IEA|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0032587;ruffle membrane;IEA|GO:0043005;neuron projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;TAS|GO:0004715;non-membrane spanning protein tyrosine kinase activity;TAS|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005080;protein kinase C binding;IEA|GO:0005102;receptor binding;IPI|GO:0005158;insulin receptor binding;IEA|GO:0005178;integrin binding;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019900;kinase binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0019904;protein domain specific binding;IEA|GO:0020037;heme binding;IDA|GO:0030331;estrogen receptor binding;IEA|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0032403;protein complex binding;IEA|GO:0042169;SH2 domain binding;IPI|GO:0044325;ion channel binding;IPI|GO:0045296;cadherin binding;IDA|GO:0046875;ephrin receptor binding;IPI|GO:0050839;cell adhesion molecule binding;IEA|GO:0051219;phosphoprotein binding;IPI|GO:0051427;hormone receptor binding;IBA|GO:0070851;growth factor receptor binding;IPI|GO:0071253;connexin binding;IEA|GO:0097110;scaffold protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SRC https://www.uniprot.org/uniprot/P12931 https://hpo.jax.org/app/browse/search?q=SRC&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=190090 http://www.informatics.jax.org/searchtool/Search.do?query=SRC&submit=Quick%0D%246ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRC 20_50.701_78.701 Chr20:25016495-51804476 1.1 SRSF6 ENSG00000124193 serine and arginine rich splicing factor 6 chr20:42086568-42092245 The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on chromosome 17 and the other on the X chromosome, have been found for this gene.[provided by RefSeq, Sep 2010] Type 2 Diabetes| edema | rosiglitazone mRNA 3'-end processing GO:0000380;alternative mRNA splicing, via spliceosome;IDA|GO:0000381;regulation of alternative mRNA splicing, via spliceosome;IMP|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006376;mRNA splice site selection;TAS|GO:0006397;mRNA processing;IEA|GO:0006405;RNA export from nucleus;TAS|GO:0006406;mRNA export from nucleus;TAS|GO:0008380;RNA splicing;IEA|GO:0010629;negative regulation of gene expression;IEA|GO:0010837;regulation of keratinocyte proliferation;IMP|GO:0031124;mRNA 3'-end processing;TAS|GO:0032868;response to insulin;IEA|GO:0045617;negative regulation of keratinocyte differentiation;IMP|GO:0048025;negative regulation of mRNA splicing, via spliceosome;IDA|GO:0060501;positive regulation of epithelial cell proliferation involved in lung morphogenesis;IDA|GO:0060548;negative regulation of cell death;IDA|GO:0061041;regulation of wound healing;IMP|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016607;nuclear speck;IDA GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0036002;pre-mRNA binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SRSF6 https://www.uniprot.org/uniprot/Q13247 https://www.ncbi.nlm.nih.gov/omim/?term=601944 http://www.informatics.jax.org/searchtool/Search.do?query=SRSF6&submit=Quick%0D%5609ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SRSF6 20_50.701_78.701 Chr20:25016495-51804476 1.1 STAU1 ENSG00000124214 staufen double-stranded RNA binding protein 1 chr20:47729878-47804904 Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. Five transcript variants resulting from alternative splicing of STAU gene and encoding three isoforms have been described. Three of these variants encode the same isoform, however, differ in their 5'UTR. [provided by RefSeq, Jul 2008] Mice homozygous for a targeted allele exhibit hypoactivity and impaired dendrite outgrowth and spine formation. GO:0034599;cellular response to oxidative stress;IEA|GO:0045070;positive regulation of viral genome replication;IMP|GO:0046726;positive regulation by virus of viral protein levels in host cell;IMP|GO:1900273;positive regulation of long-term synaptic potentiation;IEA GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005791;rough endoplasmic reticulum;TAS|GO:0005829;cytosol;IDA|GO:0005875;microtubule associated complex;TAS|GO:0005886;plasma membrane;IDA|GO:0010494;cytoplasmic stress granule;ISS|GO:0016020;membrane;IDA|GO:0030425;dendrite;IDA|GO:0036464;cytoplasmic ribonucleoprotein granule;IDA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0044297;cell body;IDA|GO:0070062;extracellular exosome;IDA GO:0003723;RNA binding;IDA|GO:0003725;double-stranded RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008157;protein phosphatase 1 binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/STAU1 https://www.uniprot.org/uniprot/O95793 https://www.ncbi.nlm.nih.gov/omim/?term=601716 http://www.informatics.jax.org/searchtool/Search.do?query=STAU1&submit=Quick%0D%5620ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STAU1 20_50.701_78.701 Chr20:25016495-51804476 1.1 STK4 ENSG00000101109 serine/threonine kinase 4 chr20:43595115-43708600 The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it's possible that this protein induces the chromatin condensation observed in this process. [provided by RefSeq, Jul 2008] Neuroblastoma; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder Mice homozygous for a gene trap allele have low numbers of nave T cells that are hyper-responsive to stimulation. Mice homozygous for knock-out alleles exhibit decreased peripheral T cell numbers due to impaired emigration and homing. Signaling by Hippo GO:0000902;cell morphogenesis;IDA|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001841;neural tube formation;IEA|GO:0001934;positive regulation of protein phosphorylation;IDA|GO:0003157;endocardium development;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;IDA|GO:0007165;signal transduction;TAS|GO:0007417;central nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0032092;positive regulation of protein binding;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0035329;hippo signaling;TAS|GO:0035556;intracellular signal transduction;IDA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0046621;negative regulation of organ growth;IEA|GO:0046777;protein autophosphorylation;IDA|GO:0050821;protein stabilization;IDA|GO:0060215;primitive hemopoiesis;IEA|GO:0060706;cell differentiation involved in embryonic placenta development;IEA|GO:0060800;regulation of cell differentiation involved in embryonic placenta development;IEA|GO:0071902;positive regulation of protein serine/threonine kinase activity;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:0097284;hepatocyte apoptotic process;IEA|GO:1902043;positive regulation of extrinsic apoptotic signaling pathway via death domain receptors;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0043234;protein complex;IDA GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IGI|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0008134;transcription factor binding;IPI|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0043539;protein serine/threonine kinase activator activity;TAS|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/STK4 https://www.uniprot.org/uniprot/Q13043 https://hpo.jax.org/app/browse/search?q=STK4&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=604965 http://www.informatics.jax.org/searchtool/Search.do?query=STK4&submit=Quick%0D%2652ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STK4 19_20.212_38.212 Chr19:6565245-15124834 0.429 STX10 ENSG00000104915 syntaxin 10 chr19:13254872-13261197 This gene belongs to the syntaxin family and encodes a soluble N-ethylmaleimide sensitive factor attachment protein receptor (SNARE). The encoded protein is involved in docking and fusion events at the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] Retrograde transport at the Trans-Golgi-Network GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IBA|GO:0006906;vesicle fusion;IBA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0032880;regulation of protein localization;IMP|GO:0042147;retrograde transport, endosome to Golgi;IDA|GO:0048193;Golgi vesicle transport;IEA|GO:0048278;vesicle docking;IBA|GO:0061025;membrane fusion;IEA GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IDA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031201;SNARE complex;IBA|GO:0031982;vesicle;IDA|GO:0032588;trans-Golgi network membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA GO:0005484;SNAP receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STX10 https://www.uniprot.org/uniprot/O60499 https://www.ncbi.nlm.nih.gov/omim/?term=603765 http://www.informatics.jax.org/searchtool/Search.do?query=STX10&submit=Quick%0D%3202ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STX10 19_20.212_38.212 Chr19:6565245-15124834 0.429 STXBP2 ENSG00000076944 syntaxin binding protein 2 chr19:7701767-7712759 This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013] HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 5 Mice homozygous for a knock-out allele exhibit complete preweaning lethality. Mice heterozygous for this allele exhibit decreased stimulated mucin secretion, release of histones in stimulated mast cells and decreased susceptibility to type I hypersensitivity reaction. Platelet degranulation GO:0001909;leukocyte mediated cytotoxicity;IMP|GO:0002576;platelet degranulation;TAS|GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043304;regulation of mast cell degranulation;ISS|GO:0043312;neutrophil degranulation;IEP GO:0005576;extracellular region;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031201;SNARE complex;IDA|GO:0042581;specific granule;IDA|GO:0042582;azurophil granule;IDA|GO:0042589;zymogen granule membrane;IEA|GO:0044194;cytolytic granule;IDA|GO:0070062;extracellular exosome;IDA|GO:0070820;tertiary granule;IDA GO:0005515;protein binding;IPI|GO:0017075;syntaxin-1 binding;IEA|GO:0030348;syntaxin-3 binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/STXBP2 https://www.uniprot.org/uniprot/Q15833 https://hpo.jax.org/app/browse/search?q=STXBP2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=601717 http://www.informatics.jax.org/searchtool/Search.do?query=STXBP2&submit=Quick%0D%1600ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=STXBP2 20_50.701_78.701 Chr20:25016495-51804476 1.1 SULF2 ENSG00000196562 sulfatase 2 chr20:46285092-46415360 Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008] Attention Deficit Disorder with Hyperactivity; Attention deficit hyperactivity disorder (time to onset); Atrial Fibrillation; Heart Failure; Inflammatory Bowel Diseases; Myocardial Infarction Homozygous disruption of this gene may lead to a partially penetrant, strain-dependent phenotype of embryonic lethality, reduced postnatal body weight, lung abnormalities, brain malformations, and reduced fertility. Mice homozygous for a hypomorphic gene-trap allele display skeletal defects. GO:0001822;kidney development;IEA|GO:0002063;chondrocyte development;IEA|GO:0003094;glomerular filtration;IEA|GO:0008152;metabolic process;IEA|GO:0009611;response to wounding;IEA|GO:0010575;positive regulation of vascular endothelial growth factor production;IEA|GO:0014846;esophagus smooth muscle contraction;IEA|GO:0030177;positive regulation of Wnt signaling pathway;IDA|GO:0030201;heparan sulfate proteoglycan metabolic process;IDA|GO:0032836;glomerular basement membrane development;IEA|GO:0035413;positive regulation of catenin import into nucleus;IEA|GO:0035860;glial cell-derived neurotrophic factor receptor signaling pathway;IEA|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0048706;embryonic skeletal system development;IEA|GO:0051216;cartilage development;IEA|GO:0060348;bone development;IEA|GO:0060384;innervation;IEA|GO:0090263;positive regulation of canonical Wnt signaling pathway;IEA|GO:0097421;liver regeneration;IEA|GO:2000345;regulation of hepatocyte proliferation;IEA GO:0005615;extracellular space;NAS|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA GO:0003824;catalytic activity;IEA|GO:0004065;arylsulfatase activity;IDA|GO:0005509;calcium ion binding;IEA|GO:0008449;N-acetylglucosamine-6-sulfatase activity;IDA|GO:0008484;sulfuric ester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/SULF2 https://www.ncbi.nlm.nih.gov/omim/?term=610013 http://www.informatics.jax.org/searchtool/Search.do?query=SULF2&submit=Quick%0D%16402ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SULF2 20_50.701_78.701 Chr20:25016495-51804476 1.1 SUN5 ENSG00000167098 Sad1 and UNC84 domain containing 5 chr20:31571579-31592239 Together, the findings indicate that SPAG4L, a new NE protein, may play an important role in the meiotic stage of spermatogenesis. SPERMATOGENIC FAILURE 16 Homozygous knockout causes male sterility owing to sperm head to flagella connection anomalies. GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA|GO:0006998;nuclear envelope organization;IBA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0090286;cytoskeletal anchoring at nuclear membrane;IBA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IBA|GO:0005637;nuclear inner membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/SUN5 https://www.uniprot.org/uniprot/Q8TC36 https://hpo.jax.org/app/browse/search?q=SUN5&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=613942 http://www.informatics.jax.org/searchtool/Search.do?query=SUN5&submit=Quick%0D%204ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SUN5 11_21.322_43.322 Chr11:11392976-25199292 1.269 SVIP ENSG00000198168 small VCP interacting protein chr11:22835345-22851845 Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the proteasome for degradation. Multiple specialized proteins interact with one another during ERAD to complete this process. The protein encoded by this gene is an inhibitor of ERAD, functioning to disrupt the interaction of these protein components. This downregulation of ERAD may be needed to protect the cell from overactive protein degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Lipoproteins; Hip; Death, Sudden, Cardiac; Diabetes Mellitus, Type 2; Heart Failure; Platelet Aggregation; Triglycerides Neutrophil degranulation GO:0010508;positive regulation of autophagy;IMP|GO:0031333;negative regulation of protein complex assembly;IMP|GO:0043312;neutrophil degranulation;TAS|GO:1903061;positive regulation of protein lipidation;IMP|GO:1903070;negative regulation of ER-associated ubiquitin-dependent protein catabolic process;IMP|GO:1904153;negative regulation of retrograde protein transport, ER to cytosol;IMP|GO:1904240;negative regulation of VCP-NPL4-UFD1 AAA ATPase complex assembly;IEA GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030667;secretory granule membrane;TAS|GO:0030868;smooth endoplasmic reticulum membrane;IEA|GO:0031225;anchored component of membrane;IDA|GO:0036513;Derlin-1 retrotranslocation complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0070821;tertiary granule membrane;TAS GO:0005515;protein binding;IPI|GO:0043621;protein self-association;IMP|GO:0051117;ATPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SVIP http://www.informatics.jax.org/searchtool/Search.do?query=SVIP&submit=Quick%0D%16834ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SVIP 19_20.212_38.212 Chr19:6565245-15124834 0.429 SWSAP1 ENSG00000173928 SWIM-type zinc finger 7 associated protein 1 chr19:11485361-11487627 Mice homozygous for a knock-out allele exhibit female and male infertility with decreased testis and ovary weights, azoospermia, absent ovarian follicles and impaired chromosomal synapsis. GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0000725;recombinational repair;IEA|GO:0006281;DNA repair;IEA|GO:0006310;DNA recombination;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0050821;protein stabilization;IMP GO:0005634;nucleus;IEA|GO:0097196;Shu complex;IDA GO:0003677;DNA binding;IEA|GO:0003697;single-stranded DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0016887;ATPase activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/SWSAP1 https://www.ncbi.nlm.nih.gov/omim/?term=614536 http://www.informatics.jax.org/searchtool/Search.do?query=SWSAP1&submit=Quick%0D%13450ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SWSAP1 19_20.212_38.212 Chr19:6565245-15124834 0.429 SYCE2 ENSG00000161860 synaptonemal complex central element protein 2 chr19:13009600-13030090 The protein encoded by this gene is part of the synaptonemal complex formed between homologous chromosomes during meiotic prophase. The encoded protein associates with SYCP1 and SYCE1 and is found only where chromosome cores are synapsed. [provided by RefSeq, Dec 2012] Type 2 Diabetes| edema | rosiglitazone Mice homogyzous for a null mutation are infertile with decreases in testis and ovary weights, arrest of spermatogenesis, and abnormal meiosis. Meiotic synapsis GO:0007049;cell cycle;IEA|GO:0007130;synaptonemal complex assembly;NAS|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA GO:0000801;central element;ISS|GO:0005634;nucleus;IDA http://www.genecards.org/index.php?path=/Search/keyword/SYCE2 https://www.ncbi.nlm.nih.gov/omim/?term=611487 http://www.informatics.jax.org/searchtool/Search.do?query=SYCE2&submit=Quick%0D%10615ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYCE2 22_57.194_74.694 Chr22:45430165-51215481 0.519 SYCE3 ENSG00000217442 synaptonemal complex central element protein 3 chr22:50989541-51001334 Mice homozygous for a null mutation display male and female infertility, impaired double strand break repair and absence of synapsis during meiosis, absence of mature gametes, and small testes and ovaries. Meiotic synapsis GO:0007049;cell cycle;IEA|GO:0007130;synaptonemal complex assembly;ISS|GO:0007131;reciprocal meiotic recombination;ISS|GO:0007283;spermatogenesis;ISS|GO:0043065;positive regulation of apoptotic process;IEA|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA GO:0000801;central element;ISS|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/SYCE3 https://www.ncbi.nlm.nih.gov/omim/?term=615775 http://www.informatics.jax.org/searchtool/Search.do?query=SYCE3&submit=Quick%0D%18375ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYCE3 20_50.701_78.701 Chr20:25016495-51804476 1.1 SYS1 ENSG00000204070 SYS1, golgi trafficking protein chr20:43990577-44005438 SYS1 forms a complex with ADP-ribosylation factor-related protein ARFRP1 (MIM 604699) and targets ARFRP1 to the Golgi apparatus (Behnia et al., 2004 [PubMed 15077113]).[supplied by OMIM, Aug 2009] Retrograde transport at the Trans-Golgi-Network GO:0000042;protein targeting to Golgi;IBA|GO:0006810;transport;IEA|GO:0006895;Golgi to endosome transport;IBA|GO:0015031;protein transport;IEA|GO:0043001;Golgi to plasma membrane protein transport;IBA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IBA|GO:0032588;trans-Golgi network membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/SYS1 https://www.ncbi.nlm.nih.gov/omim/?term=612979 http://www.informatics.jax.org/searchtool/Search.do?query=SYS1&submit=Quick%0D%17194ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYS1 20_50.701_78.701 Chr20:25016495-51804476 1.1 SYS1-DBNDD2 ENSG00000254806 SYS1-DBNDD2 readthrough (NMD candidate) chr20:43991840-44039250 This locus represents naturally occurring read-through transcription from the neighboring SYS1 Golgi-localized integral membrane protein homolog and dysbindin domain containing 2 (DBNDD2) genes. The read-through transcript includes the majority of exons from each individual gene, but it would be subject to nonsense-mediated mRNA decay (NMD) and is therefore predicted to be non-coding. [provided by RefSeq, Oct 2010] GO:0000042;protein targeting to Golgi;IBA|GO:0006895;Golgi to endosome transport;IBA|GO:0043001;Golgi to plasma membrane protein transport;IBA GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030173;integral component of Golgi membrane;IBA http://www.genecards.org/index.php?path=/Search/keyword/SYS1-DBNDD2 http://www.informatics.jax.org/searchtool/Search.do?query=SYS1-DBNDD2&submit=Quick%0D%20085ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYS1-DBNDD2 12_78.016_106.016 Chr12:64973018-92996828 1.299 SYT1 ENSG00000067715 synaptotagmin 1 chr12:79257773-79845788 The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010] Exercise Test; Epilepsy|Mental Retardation; Cholesterol, HDL; Lipids; Body Weight; Body Mass Index; serum creatinine; Respiratory Function Tests; ADHD | attention-deficit hyperactivity disorder; Tobacco Use Disorder; Life Expectancy Homozygous null mice do not suckle, show impaired synaptic transmission and Ca2+-evoked neurotransmitter release, and die by 48 hrs of life. Knock-in mice bearing a missense mutation show enhanced synaptic depression while those carrying a point mutationshow reduced synaptic release probability. GABA synthesis, release, reuptake and degradation GO:0005513;detection of calcium ion;TAS|GO:0006906;vesicle fusion;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0007420;brain development;IEA|GO:0014047;glutamate secretion;TAS|GO:0014059;regulation of dopamine secretion;IEA|GO:0016079;synaptic vesicle exocytosis;IEA|GO:0017157;regulation of exocytosis;TAS|GO:0017158;regulation of calcium ion-dependent exocytosis;IBA|GO:0030154;cell differentiation;IEA|GO:0031340;positive regulation of vesicle fusion;IEA|GO:0045956;positive regulation of calcium ion-dependent exocytosis;IEA|GO:0048278;vesicle docking;IEA|GO:0048488;synaptic vesicle endocytosis;IBA|GO:0048791;calcium ion-regulated exocytosis of neurotransmitter;IBA|GO:0050806;positive regulation of synaptic transmission;ISS|GO:0051260;protein homooligomerization;TAS|GO:0051291;protein heterooligomerization;IEA|GO:0051592;response to calcium ion;IEA|GO:0051966;regulation of synaptic transmission, glutamatergic;ISS|GO:0061024;membrane organization;TAS|GO:0071277;cellular response to calcium ion;ISS|GO:0098746;fast, calcium ion-dependent exocytosis of neurotransmitter;ISS|GO:1903305;regulation of regulated secretory pathway;ISS|GO:1903861;positive regulation of dendrite extension;IDA GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005886;plasma membrane;TAS|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030141;secretory granule;IEA|GO:0030285;integral component of synaptic vesicle membrane;IEA|GO:0030424;axon;IEA|GO:0030658;transport vesicle membrane;IEA|GO:0030665;clathrin-coated vesicle membrane;TAS|GO:0030672;synaptic vesicle membrane;TAS|GO:0031045;dense core granule;IEA|GO:0031201;SNARE complex;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042584;chromaffin granule membrane;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043005;neuron projection;ISS|GO:0043195;terminal bouton;IEA|GO:0043229;intracellular organelle;IEA|GO:0044306;neuron projection terminus;IEA|GO:0045202;synapse;IEA|GO:0060076;excitatory synapse;IEA|GO:0060201;clathrin-sculpted acetylcholine transport vesicle membrane;TAS|GO:0060203;clathrin-sculpted glutamate transport vesicle membrane;TAS|GO:0061202;clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane;TAS|GO:0070083;clathrin-sculpted monoamine transport vesicle membrane;TAS GO:0000149;SNARE binding;ISS|GO:0001786;phosphatidylserine binding;IEA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IEA|GO:0005543;phospholipid binding;IEA|GO:0005544;calcium-dependent phospholipid binding;ISS|GO:0005545;1-phosphatidylinositol binding;TAS|GO:0005546;phosphatidylinositol-4,5-bisphosphate binding;IBA|GO:0008022;protein C-terminus binding;IEA|GO:0017075;syntaxin-1 binding;TAS|GO:0019905;syntaxin binding;IEA|GO:0030276;clathrin binding;IBA|GO:0030348;syntaxin-3 binding;IEA|GO:0042802;identical protein binding;IEA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IEA|GO:0048306;calcium-dependent protein binding;IEA|GO:0050750;low-density lipoprotein particle receptor binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/SYT1 https://www.uniprot.org/uniprot/P21579 https://hpo.jax.org/app/browse/search?q=SYT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=185605 http://www.informatics.jax.org/searchtool/Search.do?query=SYT1&submit=Quick%0D%1262ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=SYT1 12_78.016_106.016 Chr12:64973018-92996828 1.299 TBC1D15 ENSG00000121749 TBC1 domain family member 15 chr12:72233487-72320629 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Glucose; Platelet Aggregation; Bipolar Disorder TBC/RABGAPs GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043087;regulation of GTPase activity;IEA|GO:0090630;activation of GTPase activity;IBA GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IBA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0012505;endomembrane system;IBA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D15 https://www.uniprot.org/uniprot/Q8TC07 https://www.ncbi.nlm.nih.gov/omim/?term=612662 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D15&submit=Quick%0D%5342ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D15 22_57.194_74.694 Chr22:45430165-51215481 0.519 TBC1D22A ENSG00000054611 TBC1 domain family member 22A chr22:47158518-47571336 Waist-Hip Ratio; Body Weight; Myocardial Infarction; Breath Tests; Resistin; Body Mass Index; Waist Circumference; Cholesterol; Stroke; Thyrotropin; Longevity; Erythrocyte Count; Parkinson Disease; Albumins; Heart Failure; Cardiomegaly; Tobacco Use Disorder; Heart Rate; Arteries; Leukocyte Count; Metabolism; Attention Deficit Disorder with Hyperactivity; Blood Pressure; Fibrinogen GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA GO:0005622;intracellular;IBA|GO:0012505;endomembrane system;IBA GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0042803;protein homodimerization activity;IDA|GO:0071889;14-3-3 protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TBC1D22A https://www.uniprot.org/uniprot/Q8WUA7 https://www.ncbi.nlm.nih.gov/omim/?term=616879 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D22A&submit=Quick%0D%978ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D22A 12_78.016_106.016 Chr12:64973018-92996828 1.299 TBC1D30 ENSG00000111490 TBC1 domain family member 30 chr12:65174589-65274812 GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0090630;activation of GTPase activity;IBA|GO:1902018;negative regulation of cilium assembly;IMP GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005929;cilium;IDA|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IEA|GO:0036064;ciliary basal body;IDA GO:0005096;GTPase activator activity;IDA|GO:0017137;Rab GTPase binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TBC1D30 https://www.uniprot.org/uniprot/Q9Y2I9 https://www.ncbi.nlm.nih.gov/omim/?term=615077 http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D30&submit=Quick%0D%4083ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D30 16_129.974_134.474 Chr16:87933002-90108832 0.174 TCF25 ENSG00000141002 transcription factor 25 chr16:89940000-89977792 TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;NAS GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TCF25 https://www.uniprot.org/uniprot/Q9BQ70 https://www.ncbi.nlm.nih.gov/omim/?term=612326 http://www.informatics.jax.org/searchtool/Search.do?query=TCF25&submit=Quick%0D%8108ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF25 11_21.322_43.322 Chr11:11392976-25199292 1.269 TEAD1 ENSG00000187079 TEA domain transcription factor 1 chr11:12695969-12966298 This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010] Body Height; Tobacco Use Disorder; Pulse Mice homozygous for disruptions in this gene die between embryonic day 11 and 12.5. Abnormalities were seen in heart development. RUNX3 regulates YAP1-mediated transcription GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006461;protein complex assembly;IMP|GO:0035329;hippo signaling;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048568;embryonic organ development;IBA|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005667;transcription factor complex;IBA|GO:0071148;TEAD-1-YAP complex;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0000982;transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IMP|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0001085;RNA polymerase II transcription factor binding;IBA|GO:0001134;transcription factor activity, transcription factor recruiting;IMP|GO:0001159;core promoter proximal region DNA binding;IMP|GO:0001223;transcription coactivator binding;IPI|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IBA|GO:0046982;protein heterodimerization activity;IPI http://www.genecards.org/index.php?path=/Search/keyword/TEAD1 https://hpo.jax.org/app/browse/search?q=TEAD1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=189967 http://www.informatics.jax.org/searchtool/Search.do?query=TEAD1&submit=Quick%0D%15772ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TEAD1 19_20.212_38.212 Chr19:6565245-15124834 0.429 TECR ENSG00000099797 trans-2,3-enoyl-CoA reductase chr19:14627897-14676792 This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011] MENTAL RETARDATION AUTOSOMAL RECESSIVE 14 Synthesis of very long-chain fatty acyl-CoAs GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0030497;fatty acid elongation;IDA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0042761;very long-chain fatty acid biosynthetic process;IDA|GO:0055114;oxidation-reduction process;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;IEA|GO:0017099;very-long-chain-acyl-CoA dehydrogenase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TECR https://www.uniprot.org/uniprot/Q9NZ01 https://hpo.jax.org/app/browse/search?q=TECR&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610057 http://www.informatics.jax.org/searchtool/Search.do?query=TECR&submit=Quick%0D%2331ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TECR 19_20.212_38.212 Chr19:6565245-15124834 0.429 TGFBR3L ENSG00000260001 transforming growth factor beta receptor 3 like chr19:7981030-7983982 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGFBR3L http://www.informatics.jax.org/searchtool/Search.do?query=TGFBR3L&submit=Quick%0D%20357ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGFBR3L 20_50.701_78.701 Chr20:25016495-51804476 1.1 TGIF2 ENSG00000118707 TGFB induced factor homeobox 2 chr20:35201891-35222353 The protein encoded by this gene is a DNA-binding homeobox protein and a transcriptional repressor, which appears to repress transcription by recruiting histone deacetylases to TGF beta-responsive genes. This gene is amplified and over-expressed in some ovarian cancers. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. Read-through transcription also exists between this gene and the neighboring downstream C20orf24 (chromosome 20 open reading frame 24) gene. [provided by RefSeq, Dec 2010] Homozygous mice are viable and do not display any gross defects. SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0010470;regulation of gastrulation;IEA|GO:0038092;nodal signaling pathway;IEA|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0060041;retina development in camera-type eye;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/TGIF2 https://www.uniprot.org/uniprot/Q9GZN2 https://www.ncbi.nlm.nih.gov/omim/?term=607294 http://www.informatics.jax.org/searchtool/Search.do?query=TGIF2&submit=Quick%0D%5004ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGIF2 20_50.701_78.701 Chr20:25016495-51804476 1.1 TGIF2-C20orf24 ENSG00000259399 TGIF2-C20orf24 readthrough chr20:35202956-35240787 This locus represents naturally occurring read-through transcription between the neighboring TGIF2 (TGFB-induced factor homeobox 2) and C20orf24 (chromosome 20 open reading frame 24) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGIF2-C20orf24 http://www.informatics.jax.org/searchtool/Search.do?query=TGIF2-C20orf24&submit=Quick%0D%20340ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGIF2-C20orf24 20_50.701_78.701 Chr20:25016495-51804476 1.1 TGM2 ENSG00000198959 transglutaminase 2 chr20:36756863-36794980 Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] celiac disease; Type 2 diabetes; Exfoliation Syndrome|Glaucoma, Open-Angle; schizophrenia A homozygous null mutation causes alterations in glucose and aerobic energy metabolism, tumor growth, and response to myocardial infarction, liver injury, and LPS-induced sepsis. A second null mutation confers resistance to renal injury, while a third one alters cell adhesion and T cell physiology. GO:0001974;blood vessel remodeling;IEA|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IEA|GO:0018149;peptide cross-linking;IEA|GO:0018153;isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine;IEA|GO:0032471;negative regulation of endoplasmic reticulum calcium ion concentration;IMP|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043277;apoptotic cell clearance;IDA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IEA|GO:0051561;positive regulation of mitochondrial calcium ion concentration;IMP|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0060662;salivary gland cavitation;IEA GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0005925;focal adhesion;IDA|GO:0031012;extracellular matrix;IDA|GO:0031226;intrinsic component of plasma membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0003810;protein-glutamine gamma-glutamyltransferase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019904;protein domain specific binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TGM2 https://www.ncbi.nlm.nih.gov/omim/?term=190196 http://www.informatics.jax.org/searchtool/Search.do?query=TGM2&submit=Quick%0D%17100ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TGM2 12_78.016_106.016 Chr12:64973018-92996828 1.299 THAP2 ENSG00000173451 THAP domain containing 2 chr12:72056789-72074419 Coronary Artery Disease GO:0005730;nucleolus;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/THAP2 https://www.ncbi.nlm.nih.gov/omim/?term=612531 http://www.informatics.jax.org/searchtool/Search.do?query=THAP2&submit=Quick%0D%13359ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=THAP2 19_20.212_38.212 Chr19:6565245-15124834 0.429 TIMM44 ENSG00000104980 translocase of inner mitochondrial membrane 44 chr19:7991603-8008805 This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016] Acquired Immunodeficiency Syndrome|Disease Progression Mitochondrial protein import GO:0006626;protein targeting to mitochondrion;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030150;protein import into mitochondrial matrix;IBA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005759;mitochondrial matrix;IDA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0051087;chaperone binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TIMM44 https://www.uniprot.org/uniprot/O43615 https://www.ncbi.nlm.nih.gov/omim/?term=605058 http://www.informatics.jax.org/searchtool/Search.do?query=TIMM44&submit=Quick%0D%3222ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TIMM44 20_50.701_78.701 Chr20:25016495-51804476 1.1 TLDC2 ENSG00000101342 TBC/LysM-associated domain containing 2 chr20:35504524-35522638 http://www.genecards.org/index.php?path=/Search/keyword/TLDC2 https://www.uniprot.org/uniprot/A0PJX2 http://www.informatics.jax.org/searchtool/Search.do?query=TLDC2&submit=Quick%0D%2714ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TLDC2 20_50.701_78.701 Chr20:25016495-51804476 1.1 TM9SF4 ENSG00000101337 transmembrane 9 superfamily member 4 chr20:30697309-30755061 Homozygous mutants exhibit abnormal hair follicles and sebaceous glands, vertebrae and rib abnormalities, and increased circulating cholesterol, calcium, albumin, and total protein levels. GO:0001666;response to hypoxia;IDA|GO:0006909;phagocytosis;IMP|GO:0007155;cell adhesion;IMP|GO:0051453;regulation of intracellular pH;IMP|GO:0070072;vacuolar proton-transporting V-type ATPase complex assembly;IMP|GO:0070863;positive regulation of protein exit from endoplasmic reticulum;IMP|GO:2000010;positive regulation of protein localization to cell surface;IMP GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005794;Golgi apparatus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TM9SF4 https://www.uniprot.org/uniprot/Q92544 http://www.informatics.jax.org/searchtool/Search.do?query=TM9SF4&submit=Quick%0D%2713ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TM9SF4 12_78.016_106.016 Chr12:64973018-92996828 1.299 TMBIM4 ENSG00000155957 transmembrane BAX inhibitor motif containing 4 chr12:66517709-66563852 GO:0006915;apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IMP|GO:0050848;regulation of calcium-mediated signaling;IDA GO:0000139;Golgi membrane;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMBIM4 https://www.uniprot.org/uniprot/Q9HC24 https://www.ncbi.nlm.nih.gov/omim/?term=616874 http://www.informatics.jax.org/searchtool/Search.do?query=TMBIM4&submit=Quick%0D%9918ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMBIM4 19_20.212_38.212 Chr19:6565245-15124834 0.429 TMED1 ENSG00000099203 transmembrane p24 trafficking protein 1 chr19:10943114-10946994 This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] GO:0006810;transport;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0015031;protein transport;IEA GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0033116;endoplasmic reticulum-Golgi intermediate compartment membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA GO:0005102;receptor binding;TAS|GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMED1 https://www.uniprot.org/uniprot/Q13445 https://www.ncbi.nlm.nih.gov/omim/?term=605395 http://www.informatics.jax.org/searchtool/Search.do?query=TMED1&submit=Quick%0D%2298ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMED1 20_50.701_78.701 Chr20:25016495-51804476 1.1 TMEM189 ENSG00000240849 transmembrane protein 189 chr20:48697663-48770335 Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] GO:0016567;protein ubiquitination;IEA GO:0005737;cytoplasm;IBA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TMEM189 https://www.ncbi.nlm.nih.gov/omim/?term=610994 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM189&submit=Quick%0D%19636ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM189 20_50.701_78.701 Chr20:25016495-51804476 1.1 TMEM189-UBE2V1 ENSG00000124208 TMEM189-UBE2V1 readthrough chr20:48697661-48770174 The TMEM189-UEV mRNA is an infrequent but naturally occurring read-through transcript of the neighboring TMEM189 and UBE2V1 genes. Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein produced by this transcript has UEV1 B domains but the protein is localized to the cytoplasm rather than to the nucleus. The significance of this read-through mRNA and the function of its protein product has not yet been determined. [provided by RefSeq, Oct 2010] Narcolepsy GO:0006301;postreplication repair;IBA|GO:0070534;protein K63-linked ubiquitination;IBA GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TMEM189-UBE2V1 https://www.uniprot.org/uniprot/I3L0A0 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM189-UBE2V1&submit=Quick%0D%5617ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM189-UBE2V1 12_78.016_106.016 Chr12:64973018-92996828 1.299 TMEM19 ENSG00000139291 transmembrane protein 19 chr12:72079867-72097836 Male mice homozygous for a null allele exhibit normal fertility. GO:0016020;membrane;IBA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMEM19 https://www.uniprot.org/uniprot/Q96HH6 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM19&submit=Quick%0D%7866ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM19 19_20.212_38.212 Chr19:6565245-15124834 0.429 TMEM205 ENSG00000105518 transmembrane protein 205 chr19:11453452-11457194 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/TMEM205 https://www.uniprot.org/uniprot/Q6UW68 https://www.ncbi.nlm.nih.gov/omim/?term=613771 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM205&submit=Quick%0D%3324ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM205 11_21.322_43.322 Chr11:11392976-25199292 1.269 TMEM86A ENSG00000151117 transmembrane protein 86A chr11:18714669-18726332 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TMEM86A https://www.uniprot.org/uniprot/Q8N2M4 http://www.informatics.jax.org/searchtool/Search.do?query=TMEM86A&submit=Quick%0D%9382ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM86A 12_78.016_106.016 Chr12:64973018-92996828 1.299 TMTC2 ENSG00000179104 transmembrane and tetratricopeptide repeat containing 2 chr12:83080659-83528649 The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Tobacco Use Disorder; Inflammatory Bowel Diseases; Prostatic Neoplasms; Body Mass Index; Hip; Glaucoma, Open-Angle GO:0055074;calcium ion homeostasis;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMTC2 https://www.ncbi.nlm.nih.gov/omim/?term=615856 http://www.informatics.jax.org/searchtool/Search.do?query=TMTC2&submit=Quick%0D%14292ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC2 12_78.016_106.016 Chr12:64973018-92996828 1.299 TMTC3 ENSG00000139324 transmembrane and tetratricopeptide repeat containing 3 chr12:88536073-88593664 This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010] Cobblestone lissencephaly without muscular or ocular involvement Mice homozygous for a gene trap allele exhibit impaired bronchial smooth muscle and alveolar myofibroblast development that leads to cyanosis and postnatal lethality in some mice. GO:0034976;response to endoplasmic reticulum stress;IMP|GO:1901800;positive regulation of proteasomal protein catabolic process;IMP GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TMTC3 https://www.uniprot.org/uniprot/Q6ZXV5 https://hpo.jax.org/app/browse/search?q=TMTC3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=617218 http://www.informatics.jax.org/searchtool/Search.do?query=TMTC3&submit=Quick%0D%7871ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TMTC3 19_20.212_38.212 Chr19:6565245-15124834 0.429 TNFSF14 ENSG00000125735 TNF superfamily member 14 chr19:6663148-6670599 The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Narcolepsy; benzene haematotoxicity; Multiple Sclerosis; null; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Hyperparathyroidism, Secondary; Dementia, Vascular|Inflammation|Stroke; Multiple Myeloma Targeted disruption of this gene leads to selective impairment of CD8+ T cell function. Mice homozygous for a knock-out allele exhibit defects in CD8+ T cell-mediated allogenic responses. Mice homozygous for a different knock-out allele show increased resistance to experimentally-induced hepatitis. TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway GO:0006915;apoptotic process;TAS|GO:0006955;immune response;IEA|GO:0007165;signal transduction;NAS|GO:0008588;release of cytoplasmic sequestered NF-kappaB;IDA|GO:0010820;positive regulation of T cell chemotaxis;IEA|GO:0031295;T cell costimulation;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;TAS|GO:0042098;T cell proliferation;NAS|GO:0042110;T cell activation;NAS|GO:0043029;T cell homeostasis;NAS|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0045663;positive regulation of myoblast differentiation;IEA|GO:0071260;cellular response to mechanical stimulus;IEP|GO:1901741;positive regulation of myoblast fusion;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA GO:0005102;receptor binding;TAS|GO:0005125;cytokine activity;IEA|GO:0005164;tumor necrosis factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0043027;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;IDA http://www.genecards.org/index.php?path=/Search/keyword/TNFSF14 https://www.uniprot.org/uniprot/O43557 https://www.ncbi.nlm.nih.gov/omim/?term=604520 http://www.informatics.jax.org/searchtool/Search.do?query=TNFSF14&submit=Quick%0D%5822ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNFSF14 20_50.701_78.701 Chr20:25016495-51804476 1.1 TNNC2 ENSG00000101470 troponin C2, fast skeletal type chr20:44451853-44462384 Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone Striated Muscle Contraction GO:0003009;skeletal muscle contraction;IDA|GO:0006937;regulation of muscle contraction;TAS|GO:0030049;muscle filament sliding;TAS GO:0005829;cytosol;TAS|GO:0005861;troponin complex;IDA GO:0003779;actin binding;IDA|GO:0005509;calcium ion binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0048306;calcium-dependent protein binding;IBA|GO:0051015;actin filament binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TNNC2 https://www.uniprot.org/uniprot/P02585 https://www.ncbi.nlm.nih.gov/omim/?term=191039 http://www.informatics.jax.org/searchtool/Search.do?query=TNNC2&submit=Quick%0D%2752ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNNC2 19_20.212_38.212 Chr19:6565245-15124834 0.429 TNPO2 ENSG00000105576 transportin 2 chr19:12810008-12834825 Parkinson Disease GO:0000060;protein import into nucleus, translocation;IBA|GO:0006607;NLS-bearing protein import into nucleus;IBA|GO:0006610;ribosomal protein import into nucleus;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0015031;protein transport;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;TAS|GO:0031965;nuclear membrane;IBA|GO:0034399;nuclear periphery;IBA GO:0005515;protein binding;IPI|GO:0008139;nuclear localization sequence binding;TAS|GO:0008536;Ran GTPase binding;IEA|GO:0008565;protein transporter activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TNPO2 https://www.uniprot.org/uniprot/O14787 https://www.ncbi.nlm.nih.gov/omim/?term=603002 http://www.informatics.jax.org/searchtool/Search.do?query=TNPO2&submit=Quick%0D%3335ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TNPO2 20_50.701_78.701 Chr20:25016495-51804476 1.1 TOMM34 ENSG00000025772 translocase of outer mitochondrial membrane 34 chr20:43570771-43589127 The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008] Acquired Immunodeficiency Syndrome|Disease Progression; Macular Degeneration Homozygous null mice are fertile and males do not display any defects in the testes or in spermatogenesis. GO:0006626;protein targeting to mitochondrion;IMP GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;IDA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;TAS GO:0005515;protein binding;IPI|GO:0031072;heat shock protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TOMM34 https://www.uniprot.org/uniprot/Q15785 https://www.ncbi.nlm.nih.gov/omim/?term=616049 http://www.informatics.jax.org/searchtool/Search.do?query=TOMM34&submit=Quick%0D%704ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOMM34 20_50.701_78.701 Chr20:25016495-51804476 1.1 TOP1 ENSG00000198900 topoisomerase (DNA) I chr20:39657458-39753127 This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008] Cholesterol, LDL; Cystatins; Cholesterol; irinotecan A homozygous mutation resulted in early embryonic lethality at the 4 to 16 cell stage of development. SUMOylation of DNA replication proteins GO:0006260;DNA replication;IEA|GO:0006265;DNA topological change;IMP|GO:0006338;chromatin remodeling;IMP|GO:0007059;chromosome segregation;IBA|GO:0007623;circadian rhythm;IEP|GO:0012501;programmed cell death;NAS|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;NAS|GO:0016925;protein sumoylation;TAS|GO:0018105;peptidyl-serine phosphorylation;IMP|GO:0032922;circadian regulation of gene expression;IMP|GO:0040016;embryonic cleavage;IEA|GO:0042493;response to drug;IEP|GO:0048511;rhythmic process;IEA GO:0000228;nuclear chromosome;IDA|GO:0000932;P-body;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;IEA|GO:0005730;nucleolus;IMP|GO:0005737;cytoplasm;IEA|GO:0009330;DNA topoisomerase complex (ATP-hydrolyzing);IMP|GO:0031298;replication fork protection complex;IBA|GO:0032993;protein-DNA complex;IMP|GO:0043204;perikaryon;IEA GO:0001046;core promoter sequence-specific DNA binding;IDA|GO:0003677;DNA binding;IMP|GO:0003682;chromatin binding;IDA|GO:0003690;double-stranded DNA binding;IMP|GO:0003697;single-stranded DNA binding;IMP|GO:0003723;RNA binding;IDA|GO:0003916;DNA topoisomerase activity;IEA|GO:0003917;DNA topoisomerase type I activity;IMP|GO:0004674;protein serine/threonine kinase activity;IMP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IMP|GO:0016853;isomerase activity;IEA|GO:0019904;protein domain specific binding;IPI|GO:0097100;supercoiled DNA binding;IMP http://www.genecards.org/index.php?path=/Search/keyword/TOP1 https://www.ncbi.nlm.nih.gov/omim/?term=126420 http://www.informatics.jax.org/searchtool/Search.do?query=TOP1&submit=Quick%0D%17069ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOP1 20_50.701_78.701 Chr20:25016495-51804476 1.1 TOX2 ENSG00000124191 TOX high mobility group box family member 2 chr20:42543504-42698256 Tobacco Use Disorder; Neuroblastoma; Conduct Disorder; Celiac Disease| GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TOX2 https://www.uniprot.org/uniprot/Q96NM4 https://www.ncbi.nlm.nih.gov/omim/?term=611163 http://www.informatics.jax.org/searchtool/Search.do?query=TOX2&submit=Quick%0D%5608ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TOX2 20_50.701_78.701 Chr20:25016495-51804476 1.1 TP53INP2 ENSG00000078804 tumor protein p53 inducible nuclear protein 2 chr20:33292094-33301243 The protein encoded by this gene promotes autophagy and is essential for proper autophagosome formation and processing. In addition, the encoded protein can enhance rDNA transcription by helping in the assembly of the POLR1/RNA polymerase I preinitiation complex. Finally, this protein serves as a transcriptional activator for some genes. [provided by RefSeq, Jul 2016] GO:0000045;autophagosome assembly;IDA|GO:0001649;osteoblast differentiation;IEA|GO:0001894;tissue homeostasis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006914;autophagy;IEA|GO:0010508;positive regulation of autophagy;IEA|GO:0016236;macroautophagy;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:1903828;negative regulation of cellular protein localization;IEA GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005776;autophagosome;IDA|GO:0005829;cytosol;IDA|GO:0016605;PML body;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TP53INP2 https://www.uniprot.org/uniprot/Q8IXH6 http://www.informatics.jax.org/searchtool/Search.do?query=TP53INP2&submit=Quick%0D%1676ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53INP2 20_50.701_78.701 Chr20:25016495-51804476 1.1 TP53RK ENSG00000172315 TP53 regulating kinase chr20:45313004-45318418 Narcolepsy; Chronic renal failure|Kidney Failure, Chronic Regulation of TP53 Activity through Phosphorylation GO:0006468;protein phosphorylation;IDA|GO:0008033;tRNA processing;IEA|GO:0016310;phosphorylation;IEA|GO:0070525;tRNA threonylcarbamoyladenosine metabolic process;IBA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0000408;EKC/KEOPS complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IBA|GO:0016020;membrane;IEA GO:0000166;nucleotide binding;IEA|GO:0002039;p53 binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016773;phosphotransferase activity, alcohol group as acceptor;IEA|GO:0016787;hydrolase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TP53RK https://hpo.jax.org/app/browse/search?q=TP53RK&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=608679 http://www.informatics.jax.org/searchtool/Search.do?query=TP53RK&submit=Quick%0D%13126ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53RK 20_50.701_78.701 Chr20:25016495-51804476 1.1 TP53TG5 ENSG00000124251 TP53 target 5 chr20:44002526-44036529 GO:0030308;negative regulation of cell growth;NAS|GO:0035556;intracellular signal transduction;NAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA GO:0003674;molecular_function;ND http://www.genecards.org/index.php?path=/Search/keyword/TP53TG5 https://www.uniprot.org/uniprot/Q9Y2B4 https://www.ncbi.nlm.nih.gov/omim/?term=617316 http://www.informatics.jax.org/searchtool/Search.do?query=TP53TG5&submit=Quick%0D%5634ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TP53TG5 11_21.322_43.322 Chr11:11392976-25199292 1.269 TPH1 ENSG00000129167 tryptophan hydroxylase 1 chr11:18039111-18063973 This gene encodes a member of the aromatic amino acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene have been associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and others.[provided by RefSeq, Apr 2009] nausea; anxiety disorder; depression; null; anxiety disorder; BP-Major Depressive; Suicide; suicide.; risk-taking behavior in a gambling task ; depressed suicide; suicide due to depression; Alzheimer's Disease; harm avoidance novelty seeking personality traits; suicide | mood disorders; suicidal behavior; self-harm behavior; alcohol abuse; smoking; Hepatopulmonary Syndrome|Liver Cirrhosis; depressive disorder, major; bipolar disorder; psychosis schizophrenia; musical aptitude; smoking behavior; hypertension; autism; schizophrenia; mood disorders; Schizophrenia; anxiety disorder; alcoholism; panic disorder; narcolepsy; panic disorder; eating disorders; Substance Withdrawal Syndrome|Tobacco Use Disorder; mood disorder; several psychiatric disorders; personality; impulsive inpatients; depressive disorder, major; antidepressant treatment; anger-related traits; depressive episode, major; migraine; Tobacco Use Disorder; attention deficit disorder conduct disorder oppositional defiant disorder; nicotine dependence; smoking initiation; Temporomandibular Joint Disorders; bipolar disorder suicide; bipolar disorder; Prenatal Exposure Delayed Effects; alcoholism; Major Psychoses; bulimia harm avoidance personality traits; citalopram; depression; bipolar disorder; depression; Autism; attention deficit hyperactivity disorder; schizophrenia; bipolar disorder; psychoses; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Alcoholism; ADHD | attention-deficit hyperactivity disorder; major and bipolar depressives; Heroin Dependence; nicotine; personality trait; decision making; Alzheimer's disease; aggressive behavior; anorexia nervosa; bulimia; adolescent-onset antisocial behavior; Borderline Personality Disorder; impulsive behavior; premenstrual dysphoric disorder; affective disorder; suicidal behavior; Weight Gain; somatic anxiety; aggressive behavior; migraine ; personality traits; response to antidepressants; Scoliosis; suicide; psychosis; normal variation; pregnancy loss, recurrent; ADHD; Bipolar Disorder; schizophrenia; bipolar disorder; affective disorder; Type 2 Diabetes| edema | rosiglitazone; Bulimia; depressive disorder, major; bipolar disorder; affective psychoses; personality disorders; major depressive disorder; tardive dyskinesia; alcohol consumption Mice homozygous for one null allele display no gross behavioral abnormalities. Mice homozygous for a second null allele display fatigue, breathing difficulties, progressive pallor, and impaired cardiac function. Serotonin and melatonin biosynthesis GO:0007623;circadian rhythm;IEA|GO:0008152;metabolic process;IEA|GO:0009072;aromatic amino acid family metabolic process;IEA|GO:0030279;negative regulation of ossification;IEA|GO:0035902;response to immobilization stress;IEA|GO:0042427;serotonin biosynthetic process;IEA|GO:0045600;positive regulation of fat cell differentiation;IEA|GO:0046219;indolalkylamine biosynthetic process;TAS|GO:0046849;bone remodeling;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0060749;mammary gland alveolus development;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043005;neuron projection;IEA GO:0004497;monooxygenase activity;IEA|GO:0004510;tryptophan 5-monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016714;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPH1 https://www.uniprot.org/uniprot/P17752 https://www.ncbi.nlm.nih.gov/omim/?term=191060 http://www.informatics.jax.org/searchtool/Search.do?query=TPH1&submit=Quick%0D%6221ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPH1 12_78.016_106.016 Chr12:64973018-92996828 1.299 TPH2 ENSG00000139287 tryptophan hydroxylase 2 chr12:72332626-72580398 This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016] cocaine dependence; financial and psychological risk attitudes; bipolar disorder unipolar disorder; suicide; ADHD | attention-deficit hyperactivity disorder; depression; depressive disorder, major; monoamine turnover mood disorders suicide; Kawasaki disease; alcoholism suicide; negative affective facial stimuli ; Alcoholism|Recurrence; Alcoholism|; cognitive ability; attention deficit hyperactivity disorder; null; bipolar disorder; Psychophysiologic Disorders; Bulimia; personality traits; Prenatal Exposure Delayed Effects; Heroin Dependence; emotion regulation; Tobacco Use Disorder; bipolar disorder suicide; response to antidepressants; Sudden Infant Death; Brain Injuries; personality; risk-taking behavior in a gambling task ; citalopram; amygdalar and hippocampal volumes; Bipolar Disorder; depression, interferon-induced; Fatigue Syndrome, Chronic|fatigue syndrome; postviral; decision making; bipolar disorder depressive disorder, major; Autism; antipsychotic-induced adverse reactions; Type 2 Diabetes| edema | rosiglitazone; borderline personality disorder and aggression; Waist Circumference; Schizophrenia; Hepatopulmonary Syndrome|Liver Cirrhosis; normal variation; affective psychoses autism obsessive compulsive disorder; chronic fatigue syndrome; autism; panic disorder; Migraine Disorders; alcohol consumption; ADHD; impulsivity; response inhibition; Alcoholism; Weight Gain; depression | metabolic syndrome Mutations in this locus result in abnormal serotonin levels in the brain. Whether an increase or decrease in serotonin levels is seen depends on the specific nucleotide substitution/point mutation. Serotonin and melatonin biosynthesis GO:0007623;circadian rhythm;IEA|GO:0008152;metabolic process;IEA|GO:0009072;aromatic amino acid family metabolic process;IEA|GO:0014823;response to activity;IEA|GO:0031667;response to nutrient levels;IEA|GO:0042427;serotonin biosynthetic process;IEA|GO:0043627;response to estrogen;IEA|GO:0046219;indolalkylamine biosynthetic process;TAS|GO:0051384;response to glucocorticoid;IEA|GO:0051592;response to calcium ion;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0071285;cellular response to lithium ion;IEA GO:0005829;cytosol;TAS|GO:0043005;neuron projection;IEA GO:0004497;monooxygenase activity;IEA|GO:0004510;tryptophan 5-monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016714;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TPH2 https://www.uniprot.org/uniprot/Q8IWU9 https://www.ncbi.nlm.nih.gov/omim/?term=607478 http://www.informatics.jax.org/searchtool/Search.do?query=TPH2&submit=Quick%0D%7864ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPH2 20_50.701_78.701 Chr20:25016495-51804476 1.1 TPX2 ENSG00000088325 TPX2, microtubule nucleation factor chr20:30327074-30389608 breast cancer; benzene haematotoxicity Mice homozygous for a gene trap allele exhibit embryonic arrest at the morula stage, embryonic lethality and tetraploidy of cultured E1.5 embryos. Mice heterozygous for the gene trap allele exhibit aneuploidy and increased tumor incidence. AURKA Activation by TPX2 GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000278;mitotic cell cycle;TAS|GO:0006915;apoptotic process;IEA|GO:0007049;cell cycle;IEA|GO:0008283;cell proliferation;TAS|GO:0032147;activation of protein kinase activity;IDA|GO:0051301;cell division;IEA|GO:0060236;regulation of mitotic spindle organization;ISS|GO:0090307;mitotic spindle assembly;IDA|GO:1901796;regulation of signal transduction by p53 class mediator;TAS GO:0000922;spindle pole;IEA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0043203;axon hillock;IEA|GO:0072686;mitotic spindle;IDA GO:0005515;protein binding;IPI|GO:0005524;ATP binding;TAS|GO:0005525;GTP binding;TAS|GO:0019901;protein kinase binding;IPI|GO:0061676;importin-alpha family protein binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TPX2 https://www.uniprot.org/uniprot/Q9ULW0 https://www.ncbi.nlm.nih.gov/omim/?term=605917 http://www.informatics.jax.org/searchtool/Search.do?query=TPX2&submit=Quick%0D%1997ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TPX2 22_57.194_74.694 Chr22:45430165-51215481 0.519 TRABD ENSG00000170638 TraB domain containing chr22:50624344-50638027 http://www.genecards.org/index.php?path=/Search/keyword/TRABD http://www.informatics.jax.org/searchtool/Search.do?query=TRABD&submit=Quick%0D%12755ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRABD 16_129.974_134.474 Chr16:87933002-90108832 0.174 TRAPPC2L ENSG00000167515 trafficking protein particle complex 2 like chr16:88922628-88929094 This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0061024;membrane organization;TAS GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC2L https://hpo.jax.org/app/browse/search?q=TRAPPC2L&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610970 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC2L&submit=Quick%0D%12025ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC2L 19_20.212_38.212 Chr19:6565245-15124834 0.429 TRAPPC5 ENSG00000181029 trafficking protein particle complex 5 chr19:7745729-7747744 RAB GEFs exchange GTP for GDP on RABs GO:0006810;transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048193;Golgi vesicle transport;IEA|GO:0048208;COPII vesicle coating;TAS|GO:0061024;membrane organization;TAS GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0030008;TRAPP complex;IEA GO:0005515;protein binding;IPI|GO:0017112;Rab guanyl-nucleotide exchange factor activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/TRAPPC5 http://www.informatics.jax.org/searchtool/Search.do?query=TRAPPC5&submit=Quick%0D%14573ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAPPC5 12_78.016_106.016 Chr12:64973018-92996828 1.299 TRHDE ENSG00000072657 thyrotropin releasing hormone degrading enzyme chr12:72481046-73059422 This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008] Lipoproteins, HDL; Tobacco Use Disorder; Body Weights and Measures; Hip; Body Height; monocyte chemoattractant protein 1 (66-77); Chemokines; Lipoproteins, VLDL; Arthritis, Rheumatoid; Cholesterol, LDL; plasma chemerin levels ; Coronary Artery Disease; Hemoglobins; Type 2 Diabetes| edema | rosiglitazone; Arteries GO:0006508;proteolysis;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS|GO:0008217;regulation of blood pressure;IBA|GO:0043171;peptide catabolic process;IBA GO:0005737;cytoplasm;IBA|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0004177;aminopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/TRHDE https://www.uniprot.org/uniprot/Q9UKU6 https://www.ncbi.nlm.nih.gov/omim/?term=606950 http://www.informatics.jax.org/searchtool/Search.do?query=TRHDE&submit=Quick%0D%1441ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRHDE 19_20.212_38.212 Chr19:6565245-15124834 0.429 TRIP10 ENSG00000125733 thyroid hormone receptor interactor 10 chr19:6737936-6751537 Mice homozygous for a knock-out allele exhibit increased insulin-stimulated glucose uptake in adipocytes and decreased circulating glucose levels. Mice homozygous for another knock-out allele exhibit impaired integrin-dependent T-cell trafficking. Clathrin-mediated endocytosis GO:0006897;endocytosis;IEA|GO:0007154;cell communication;NAS|GO:0007165;signal transduction;TAS|GO:0030036;actin cytoskeleton organization;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0061024;membrane organization;TAS GO:0001891;phagocytic cup;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0005938;cell cortex;IEA|GO:0016020;membrane;IEA|GO:0042995;cell projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TRIP10 https://www.uniprot.org/uniprot/Q15642 https://www.ncbi.nlm.nih.gov/omim/?term=604504 http://www.informatics.jax.org/searchtool/Search.do?query=TRIP10&submit=Quick%0D%5820ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIP10 19_20.212_38.212 Chr19:6565245-15124834 0.429 TRMT1 ENSG00000104907 tRNA methyltransferase 1 chr19:13215716-13228381 Autosomal Recessive Mental Retardation tRNA modification in the nucleus and cytosol GO:0002940;tRNA N2-guanine methylation;IBA|GO:0006400;tRNA modification;TAS|GO:0008033;tRNA processing;IEA|GO:0030488;tRNA methylation;IEA|GO:0032259;methylation;IEA GO:0005634;nucleus;IBA|GO:0005654;nucleoplasm;TAS|GO:0005739;mitochondrion;IBA GO:0000049;tRNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0004809;tRNA (guanine-N2-)-methyltransferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRMT1 https://www.uniprot.org/uniprot/Q9NXH9 https://hpo.jax.org/app/browse/search?q=TRMT1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=611669 http://www.informatics.jax.org/searchtool/Search.do?query=TRMT1&submit=Quick%0D%3201ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMT1 4_17.387_23.387 Chr4:7152608-8704080 0.68 TRMT44 ENSG00000155275 tRNA methyltransferase 44 homolog (S. cerevisiae) chr4:8437867-8495258 The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012] Body Height; Blood Pressure Determination; Leukemia, Lymphocytic, Chronic, B-Cell; Hip tRNA modification in the nucleus and cytosol GO:0008033;tRNA processing;IEA|GO:0030488;tRNA methylation;IBA|GO:0032259;methylation;IEA GO:0005737;cytoplasm;IEA GO:0008168;methyltransferase activity;IEA|GO:0016300;tRNA (uracil) methyltransferase activity;IBA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRMT44 https://www.uniprot.org/uniprot/Q8IYL2 https://www.ncbi.nlm.nih.gov/omim/?term=614309 http://www.informatics.jax.org/searchtool/Search.do?query=TRMT44&submit=Quick%0D%9855ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMT44 22_57.194_74.694 Chr22:45430165-51215481 0.519 TRMU ENSG00000100416 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase chr22:46726772-46753237 This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Acquired Immunodeficiency Syndrome|Disease Progression; Diabetes Mellitus, Type 2|; Hearing Loss, Sensorineural Homozygous KO is embryonic lethal. Homozygous conditional KO in the liver affects mitochondrial function owing to impaired mt-tRNA modifications. tRNA modification in the mitochondrion GO:0002143;tRNA wobble position uridine thiolation;IBA|GO:0008033;tRNA processing;IEA|GO:0032259;methylation;IEA|GO:0070903;mitochondrial tRNA thio-modification;IBA GO:0005654;nucleoplasm;IDA|GO:0005739;mitochondrion;IDA GO:0000049;tRNA binding;IEA|GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IEA|GO:0005524;ATP binding;IEA|GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016783;sulfurtransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TRMU https://www.uniprot.org/uniprot/O75648 https://hpo.jax.org/app/browse/search?q=TRMU&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610230 http://www.informatics.jax.org/searchtool/Search.do?query=TRMU&submit=Quick%0D%2515ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMU 20_50.701_78.701 Chr20:25016495-51804476 1.1 TRPC4AP ENSG00000100991 transient receptor potential cation channel subfamily C member 4 associated protein chr20:33590207-33680674 Alzheimer's disease TRP channels GO:0006511;ubiquitin-dependent protein catabolic process;IDA|GO:0016567;protein ubiquitination;IDA|GO:0048820;hair follicle maturation;IEA|GO:0070588;calcium ion transmembrane transport;TAS GO:0005886;plasma membrane;TAS|GO:0031464;Cul4A-RING E3 ubiquitin ligase complex;IDA GO:0005262;calcium channel activity;TAS|GO:0005515;protein binding;IPI|GO:0019902;phosphatase binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/TRPC4AP https://www.uniprot.org/uniprot/Q8TEL6 https://www.ncbi.nlm.nih.gov/omim/?term=608430 http://www.informatics.jax.org/searchtool/Search.do?query=TRPC4AP&submit=Quick%0D%2633ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TRPC4AP 11_21.322_43.322 Chr11:11392976-25199292 1.269 TSG101 ENSG00000074319 tumor susceptibility 101 chr11:18489883-18548779 The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008] Hepatitis C|Remission, Spontaneous; Platelet Count; lung cancer ; bladder cancer; lung cancer; chronic obstructive pulmonary disease Homozygotes for targeted null mutations exhibit reduced growth, fail to form mesoderm, accumulate p53 protein and die by embryonic day 6.5. Homozygotes for a mammary gland-specific knockout show impaired mammogenesis and are unable to nurse their pups. Endosomal Sorting Complex Required For Transport (ESCRT) GO:0001558;regulation of cell growth;IEA|GO:0006464;cellular protein modification process;IEA|GO:0006513;protein monoubiquitination;IEA|GO:0006810;transport;IEA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0008333;endosome to lysosome transport;IEA|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0016197;endosomal transport;TAS|GO:0016236;macroautophagy;TAS|GO:0019058;viral life cycle;TAS|GO:0030154;cell differentiation;IEA|GO:0030216;keratinocyte differentiation;IEA|GO:0036258;multivesicular body assembly;TAS|GO:0039702;viral budding via host ESCRT complex;TAS|GO:0040008;regulation of growth;IEA|GO:0042059;negative regulation of epidermal growth factor receptor signaling pathway;IMP|GO:0043162;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;IC|GO:0043405;regulation of MAP kinase activity;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0046755;viral budding;IMP|GO:0048524;positive regulation of viral process;IMP|GO:0051301;cell division;IEA|GO:0075733;intracellular transport of virus;TAS|GO:0097352;autophagosome maturation;TAS|GO:1902188;positive regulation of viral release from host cell;IMP|GO:1903543;positive regulation of exosomal secretion;IMP|GO:1903551;regulation of extracellular exosome assembly;IMP|GO:1903772;regulation of viral budding via host ESCRT complex;IMP|GO:1903774;positive regulation of viral budding via host ESCRT complex;IMP|GO:1990182;exosomal secretion;IEA|GO:2000397;positive regulation of ubiquitin-dependent endocytosis;IEA GO:0000813;ESCRT I complex;TAS|GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005769;early endosome;IDA|GO:0005770;late endosome;IMP|GO:0005771;multivesicular body;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0010008;endosome membrane;TAS|GO:0016020;membrane;IEA|GO:0031902;late endosome membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0003677;DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IEA|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0043130;ubiquitin binding;TAS|GO:0046790;virion binding;IDA|GO:0048306;calcium-dependent protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TSG101 https://www.uniprot.org/uniprot/Q99816 https://www.ncbi.nlm.nih.gov/omim/?term=601387 http://www.informatics.jax.org/searchtool/Search.do?query=TSG101&submit=Quick%0D%1499ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSG101 20_50.701_78.701 Chr20:25016495-51804476 1.1 TSHZ2 ENSG00000182463 teashirt zinc finger homeobox 2 chr20:51588946-52111869 Triglycerides; Cholesterol; Alcohol Drinking; hemoglobin; Myocardial Infarction; Cholesterol, LDL; Tobacco Use Disorder; Iron; null; Body Height; Type 2 Diabetes| edema | rosiglitazone; Erythrocytes; Heart Rate Mice homozygous for a transposon induced allele die in utero; cultured blastocysts fail to hatch. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA|GO:0007275;multicellular organism development;IEA|GO:0010468;regulation of gene expression;IEA GO:0005634;nucleus;IEA GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TSHZ2 https://www.ncbi.nlm.nih.gov/omim/?term=614118 http://www.informatics.jax.org/searchtool/Search.do?query=TSHZ2&submit=Quick%0D%14793ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSHZ2 19_20.212_38.212 Chr19:6565245-15124834 0.429 TSPAN16 ENSG00000130167 tetraspanin 16 chr19:11406824-11437672 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries. GO:0007166;cell surface receptor signaling pathway;IBA GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS http://www.genecards.org/index.php?path=/Search/keyword/TSPAN16 https://www.uniprot.org/uniprot/Q9UKR8 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN16&submit=Quick%0D%6323ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN16 12_78.016_106.016 Chr12:64973018-92996828 1.299 TSPAN19 ENSG00000231738 tetraspanin 19 chr12:85408094-85430055 GO:0007166;cell surface receptor signaling pathway;IBA GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/TSPAN19 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN19&submit=Quick%0D%19069ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN19 12_78.016_106.016 Chr12:64973018-92996828 1.299 TSPAN8 ENSG00000127324 tetraspanin 8 chr12:71518865-71835678 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] Type 2 diabetes|reduced prostate cancer risk; schizophrenia | bipolar disorder; type 2 diabetes; obesity; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Posttransplantation diabetes mellitus (PTDM); Cardiovascular Diseases; Macular Degeneration; diabetes, type 2; Diabetes Mellitus, Type 2|; latent autoimmune diabetes; Diabetes Mellitus, Type 2; Creutzfeldt-Jakob Syndrome; Tobacco Use Disorder; Arthritis, Rheumatoid|Crohn Disease|Crohn's disease|Diabetes mellitus|Disease|Rheumatoid Arthritis; Type 2 diabetes GO:0007166;cell surface receptor signaling pathway;IBA|GO:0007283;spermatogenesis;IEA|GO:0010468;regulation of gene expression;IEA|GO:0030195;negative regulation of blood coagulation;IEA GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005178;integrin binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TSPAN8 https://www.uniprot.org/uniprot/P19075 https://www.ncbi.nlm.nih.gov/omim/?term=600769 http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN8&submit=Quick%0D%6020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN8 22_57.194_74.694 Chr22:45430165-51215481 0.519 TTC38 ENSG00000075234 tetratricopeptide repeat domain 38 chr22:46663858-46689905 GO:0070062;extracellular exosome;IDA http://www.genecards.org/index.php?path=/Search/keyword/TTC38 https://www.uniprot.org/uniprot/Q5R3I4 http://www.informatics.jax.org/searchtool/Search.do?query=TTC38&submit=Quick%0D%1533ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTC38 20_50.701_78.701 Chr20:25016495-51804476 1.1 TTI1 ENSG00000101407 TELO2 interacting protein 1 chr20:36611409-36661870 longevity GO:0032006;regulation of TOR signaling;IMP GO:0005737;cytoplasm;IDA|GO:0031931;TORC1 complex;IDA|GO:0031932;TORC2 complex;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/TTI1 https://www.uniprot.org/uniprot/O43156 https://www.ncbi.nlm.nih.gov/omim/?term=614425 http://www.informatics.jax.org/searchtool/Search.do?query=TTI1&submit=Quick%0D%2729ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTI1 22_57.194_74.694 Chr22:45430165-51215481 0.519 TTLL8 ENSG00000138892 tubulin tyrosine ligase like 8 chr22:50453552-50495364 Stroke Carboxyterminal post-translational modifications of tubulin GO:0006464;cellular protein modification process;IEA|GO:0018094;protein polyglycylation;IEA|GO:0060271;cilium assembly;IEA GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0005930;axoneme;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0070735;protein-glycine ligase activity;IEA|GO:0070736;protein-glycine ligase activity, initiating;IEA http://www.genecards.org/index.php?path=/Search/keyword/TTLL8 https://www.uniprot.org/uniprot/A6PVC2 http://www.informatics.jax.org/searchtool/Search.do?query=TTLL8&submit=Quick%0D%7819ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTLL8 20_50.701_78.701 Chr20:25016495-51804476 1.1 TTLL9 ENSG00000131044 tubulin tyrosine ligase like 9 chr20:30458505-30532764 Mice homozygous for a knock-out allele exhibit male infertility associated with oligozoospermia, detached sperm flagella, abnormal sperm axonemes with loss of doublet 7 and reduced polyglutamylation of doublet 5, and asthenozoospermia with frequent stalls after anti-hook bending. Carboxyterminal post-translational modifications of tubulin GO:0006464;cellular protein modification process;IEA GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005929;cilium;IEA|GO:0042995;cell projection;IEA GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TTLL9 https://www.uniprot.org/uniprot/Q3SXZ7 http://www.informatics.jax.org/searchtool/Search.do?query=TTLL9&submit=Quick%0D%6483ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTLL9 20_50.701_78.701 Chr20:25016495-51804476 1.1 TTPAL ENSG00000124120 alpha tocopherol transfer protein like chr20:43104526-43123244 GO:0006810;transport;IEA GO:0005622;intracellular;IEA|GO:0016020;membrane;IDA GO:0005215;transporter activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/TTPAL https://www.uniprot.org/uniprot/Q9BTX7 http://www.informatics.jax.org/searchtool/Search.do?query=TTPAL&submit=Quick%0D%5592ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TTPAL 16_129.974_134.474 Chr16:87933002-90108832 0.174 TUBB3 ENSG00000258947 tubulin beta 3 class III chr16:89987800-90005169 This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010] CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 1 Mice homozygous for a knock-in allele exhibit neonatal lethality associated with respiratory distress, abnormal corpus callosum morphology, abnormal cranial nerves, and defective axon guidance. Kinesins GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA|GO:0007411;axon guidance;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0030425;dendrite;ISS|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TUBB3 https://hpo.jax.org/app/browse/search?q=TUBB3&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602661 http://www.informatics.jax.org/searchtool/Search.do?query=TUBB3&submit=Quick%0D%20311ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBB3 22_57.194_74.694 Chr22:45430165-51215481 0.519 TUBGCP6 ENSG00000128159 tubulin gamma complex associated protein 6 chr22:50656118-50683421 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] HIV Infections|[X]Human immunodeficiency virus disease; Erythrocyte Count Recruitment of NuMA to mitotic centrosomes GO:0000226;microtubule cytoskeleton organization;IEA|GO:0007020;microtubule nucleation;IDA|GO:0031122;cytoplasmic microtubule organization;IBA|GO:0051298;centrosome duplication;IBA|GO:0051415;interphase microtubule nucleation by interphase microtubule organizing center;IBA|GO:0090307;mitotic spindle assembly;IBA GO:0000922;spindle pole;IEA|GO:0000923;equatorial microtubule organizing center;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0008274;gamma-tubulin ring complex;IDA|GO:0016020;membrane;IDA|GO:0070062;extracellular exosome;IDA GO:0005200;structural constituent of cytoskeleton;IBA|GO:0008017;microtubule binding;IDA|GO:0043015;gamma-tubulin binding;IBA|GO:0051011;microtubule minus-end binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/TUBGCP6 https://www.uniprot.org/uniprot/Q96RT7 https://hpo.jax.org/app/browse/search?q=TUBGCP6&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610053 http://www.informatics.jax.org/searchtool/Search.do?query=TUBGCP6&submit=Quick%0D%6102ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBGCP6 19_20.212_38.212 Chr19:6565245-15124834 0.429 TYK2 ENSG00000105397 tyrosine kinase 2 chr19:10461209-10491352 This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. [provided by RefSeq, Jul 2008] Hepatitis C, Chronic|Neutropenia|Thrombocytopenia; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; systemic lupus erythematosus ; lupus erythematosus; Multiple Sclerosis; Lymphoproliferative Disorders|Myelodysplastic Syndromes; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; ovarian cancer; Crohn Disease|Crohn's disease; Crohn Disease|; type 1 diabetes; rheumatoid arthritis; multiple sclerosis; Hepatitis C, Chronic|Liver Cirrhosis; null; Dengue Hemorrhagic Fever; Meningeal Neoplasms|meningioma; Diabetes Mellitus, Type 2; thyroid cancer; Lupus Erythematosus, Systemic; Crohn Disease; myeloid leukemia; Psoriasis; diabetes, type 1 ; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; respiratory syncytial virus bronchiolitis; Diabetes Mellitus, Type 1; Leukemia, Myeloid, Acute; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Chronic renal failure|Kidney Failure, Chronic Homozygous mutant mice are viable and fertile, but differ from wild-type with respect to interleukin 12 mediated T cell function. Regulation of IFNA signaling GO:0006468;protein phosphorylation;IEA|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IBA|GO:0016310;phosphorylation;IEA|GO:0016477;cell migration;IBA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030154;cell differentiation;IBA|GO:0035556;intracellular signal transduction;IEA|GO:0038083;peptidyl-tyrosine autophosphorylation;IBA|GO:0042127;regulation of cell proliferation;IBA|GO:0045087;innate immune response;IBA|GO:0060337;type I interferon signaling pathway;TAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0031234;extrinsic component of cytoplasmic side of plasma membrane;IBA|GO:0070062;extracellular exosome;IDA GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004713;protein tyrosine kinase activity;IEA|GO:0004715;non-membrane spanning protein tyrosine kinase activity;IEA|GO:0005131;growth hormone receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0031702;type 1 angiotensin receptor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/TYK2 https://www.uniprot.org/uniprot/P29597 https://hpo.jax.org/app/browse/search?q=TYK2&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=176941 http://www.informatics.jax.org/searchtool/Search.do?query=TYK2&submit=Quick%0D%3296ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TYK2 22_57.194_74.694 Chr22:45430165-51215481 0.519 TYMP ENSG00000025708 thymidine phosphorylase chr22:50964181-50968485 This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012] Erythrocyte Indices; encephalomyopathy; Deafness|Diabetes Complications|Diabetes Mellitus|Intestinal Pseudo-Obstruction|Pancreatitis|Recurrence; Intestinal Pseudo-Obstruction|Mitochondrial Diseases; mean corpuscular volume; Type 2 Diabetes| edema | rosiglitazone; Amyotrophic Lateral Sclerosis|Anoxia| Mice homozygous for a null allele exhibit reduced thymidine phosphorylase activity and increased thymidine levels. Pyrimidine catabolism GO:0000002;mitochondrial genome maintenance;IMP|GO:0001525;angiogenesis;IEA|GO:0006206;pyrimidine nucleobase metabolic process;IEA|GO:0006213;pyrimidine nucleoside metabolic process;IEA|GO:0006935;chemotaxis;IEA|GO:0007275;multicellular organism development;IEA|GO:0008152;metabolic process;IEA|GO:0030154;cell differentiation;IEA|GO:0031641;regulation of myelination;IMP|GO:0043097;pyrimidine nucleoside salvage;TAS|GO:0046135;pyrimidine nucleoside catabolic process;TAS|GO:0051969;regulation of transmission of nerve impulse;IMP|GO:1905333;regulation of gastric motility;IMP GO:0005829;cytosol;TAS GO:0004645;phosphorylase activity;IEA|GO:0008083;growth factor activity;IEA|GO:0009032;thymidine phosphorylase activity;IDA|GO:0016154;pyrimidine-nucleoside phosphorylase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0016763;transferase activity, transferring pentosyl groups;IEA|GO:0042803;protein homodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/TYMP https://www.uniprot.org/uniprot/P19971 https://hpo.jax.org/app/browse/search?q=TYMP&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=131222 http://www.informatics.jax.org/searchtool/Search.do?query=TYMP&submit=Quick%0D%702ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=TYMP 20_50.701_78.701 Chr20:25016495-51804476 1.1 UBE2C ENSG00000175063 ubiquitin conjugating enzyme E2 C chr20:44441215-44445596 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013] Type 2 Diabetes| edema | rosiglitazone Antigen processing: Ubiquitination & Proteasome degradation GO:0006511;ubiquitin-dependent protein catabolic process;IDA|GO:0007049;cell cycle;IEA|GO:0010458;exit from mitosis;IMP|GO:0010994;free ubiquitin chain polymerization;IDA|GO:0016567;protein ubiquitination;TAS|GO:0030071;regulation of mitotic metaphase/anaphase transition;IBA|GO:0031145;anaphase-promoting complex-dependent catabolic process;TAS|GO:0031536;positive regulation of exit from mitosis;IMP|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;TAS|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0051301;cell division;IEA|GO:0051436;negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051439;regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle;TAS|GO:0070936;protein K48-linked ubiquitination;IDA|GO:0070979;protein K11-linked ubiquitination;IDA|GO:1904668;positive regulation of ubiquitin protein ligase activity;TAS GO:0005654;nucleoplasm;TAS|GO:0005680;anaphase-promoting complex;IDA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA GO:0000166;nucleotide binding;IEA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA|GO:0061631;ubiquitin conjugating enzyme activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/UBE2C https://www.ncbi.nlm.nih.gov/omim/?term=605574 http://www.informatics.jax.org/searchtool/Search.do?query=UBE2C&submit=Quick%0D%13626ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBE2C 20_50.701_78.701 Chr20:25016495-51804476 1.1 UBE2V1 ENSG00000244687 ubiquitin conjugating enzyme E2 V1 chr20:48697661-48732496 Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the human FOS proto-oncogene. It is thought to be involved in the control of differentiation by altering cell cycle behavior. Alternatively spliced transcript variants encoding multiple isoforms have been described for this gene, and multiple pseudogenes of this gene have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Apr 2012] Antigen processing: Ubiquitination & Proteasome degradation GO:0000187;activation of MAPK activity;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006282;regulation of DNA repair;TAS|GO:0006301;postreplication repair;IBA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0007254;JNK cascade;TAS|GO:0030154;cell differentiation;NAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;TAS|GO:0045893;positive regulation of transcription, DNA-templated;TAS|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:0070534;protein K63-linked ubiquitination;IDA GO:0000151;ubiquitin ligase complex;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0031371;ubiquitin conjugating enzyme complex;IDA|GO:0035370;UBC13-UEV1A complex;IDA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA http://www.genecards.org/index.php?path=/Search/keyword/UBE2V1 https://www.ncbi.nlm.nih.gov/omim/?term=602995 http://www.informatics.jax.org/searchtool/Search.do?query=UBE2V1&submit=Quick%0D%19862ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBE2V1 19_20.212_38.212 Chr19:6565245-15124834 0.429 UBL5 ENSG00000198258 ubiquitin like 5 chr19:9938568-9940791 This gene encodes a member of a group of proteins similar to ubiquitin. The encoded protein is not thought to degrade proteins like ubiquitin but to affect their function through being bound to target proteins by an isopeptide bond. The gene product has been studied as a link to predisposition to obesity based on its expression in Psammomys obesus, the fat sand rat, which is an animal model for obesity studies. Variation in this gene was found to be significantly associated with some metabolic traits (PMID: 15331561) but not associated with childhood obesity (PMID: 19189687). Pseudogenes of this gene are located on chromosomes 3, 5 and 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013] metabolic syndrome; Autism; Body Weight|Obesity GO:0000398;mRNA splicing, via spliceosome;IBA|GO:0006464;cellular protein modification process;IBA|GO:0008150;biological_process;ND|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IDA GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0031386;protein tag;IBA http://www.genecards.org/index.php?path=/Search/keyword/UBL5 https://www.ncbi.nlm.nih.gov/omim/?term=606849 http://www.informatics.jax.org/searchtool/Search.do?query=UBL5&submit=Quick%0D%16857ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UBL5 11_21.322_43.322 Chr11:11392976-25199292 1.269 UEVLD ENSG00000151116 UEV and lactate/malate dehyrogenase domains chr11:18551156-18610294 GO:0005975;carbohydrate metabolic process;IEA|GO:0006464;cellular protein modification process;IEA|GO:0008150;biological_process;ND|GO:0015031;protein transport;IEA|GO:0019752;carboxylic acid metabolic process;IEA|GO:0055114;oxidation-reduction process;IEA GO:0070062;extracellular exosome;IDA GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016616;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;IEA http://www.genecards.org/index.php?path=/Search/keyword/UEVLD https://www.uniprot.org/uniprot/Q8IX04 https://www.ncbi.nlm.nih.gov/omim/?term=610985 http://www.informatics.jax.org/searchtool/Search.do?query=UEVLD&submit=Quick%0D%9381ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UEVLD 22_57.194_74.694 Chr22:45430165-51215481 0.519 UPK3A ENSG00000100373 uroplakin 3A chr22:45680863-45691755 This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] Vesico-Ureteral Reflux; vesicoureteral reflux Homozygous null mice exhibit urogenital defects including abnormal urothelium, vesicoureteral reflux, and hydronephrosis. GO:0000902;cell morphogenesis;IEA|GO:0001822;kidney development;IEA|GO:0006833;water transport;IEA|GO:0015840;urea transport;IEA|GO:0030855;epithelial cell differentiation;IDA|GO:0055075;potassium ion homeostasis;IEA|GO:0055078;sodium ion homeostasis;IEA|GO:0060157;urinary bladder development;IEA GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0070062;extracellular exosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/UPK3A https://www.uniprot.org/uniprot/O75631 https://www.ncbi.nlm.nih.gov/omim/?term=611559 http://www.informatics.jax.org/searchtool/Search.do?query=UPK3A&submit=Quick%0D%2501ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UPK3A 20_50.701_78.701 Chr20:25016495-51804476 1.1 UQCC1 ENSG00000101019 ubiquinol-cytochrome c reductase complex assembly factor 1 chr20:33890369-33999944 This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] Height; Body Height; Acquired Immunodeficiency Syndrome|Disease Progression; skeletal frame size; height GO:0034551;mitochondrial respiratory chain complex III assembly;IDA|GO:0070131;positive regulation of mitochondrial translation;IDA GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IDA|GO:0016020;membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/UQCC1 https://www.uniprot.org/uniprot/Q9NVA1 https://www.ncbi.nlm.nih.gov/omim/?term=611797 http://www.informatics.jax.org/searchtool/Search.do?query=UQCC1&submit=Quick%0D%2640ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=UQCC1 11_21.322_43.322 Chr11:11392976-25199292 1.269 USH1C ENSG00000006611 USH1 protein network component harmonin chr11:17515442-17565963 This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Usher Syndromes; Tobacco Use Disorder; Retinal Diseases; Usher syndrome; usher syndrome Mutations at this locus affect hearing and result in movement anomalies generally associated with vestibular mutants, such as head tossing and circling. GO:0000086;G2/M transition of mitotic cell cycle;IMP|GO:0007605;sensory perception of sound;IMP|GO:0030046;parallel actin filament bundle assembly;ISS|GO:0030154;cell differentiation;IEA|GO:0032532;regulation of microvillus length;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0042491;auditory receptor cell differentiation;ISS|GO:0043623;cellular protein complex assembly;IDA|GO:0045494;photoreceptor cell maintenance;IMP|GO:0050953;sensory perception of light stimulus;IMP|GO:0050957;equilibrioception;IMP|GO:0051017;actin filament bundle assembly;ISS|GO:0060122;inner ear receptor stereocilium organization;ISS|GO:1904106;protein localization to microvillus;IMP|GO:1904970;brush border assembly;IMP GO:0001750;photoreceptor outer segment;ISS|GO:0001917;photoreceptor inner segment;ISS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;ISS|GO:0005902;microvillus;IDA|GO:0005903;brush border;IDA|GO:0032420;stereocilium;TAS|GO:0042995;cell projection;IEA|GO:0045177;apical part of cell;IDA|GO:0045202;synapse;ISS GO:0005515;protein binding;IPI|GO:0030507;spectrin binding;IDA|GO:0051015;actin filament binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/USH1C https://www.uniprot.org/uniprot/Q9Y6N9 https://hpo.jax.org/app/browse/search?q=USH1C&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605242 http://www.informatics.jax.org/searchtool/Search.do?query=USH1C&submit=Quick%0D%409ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USH1C 11_21.322_43.322 Chr11:11392976-25199292 1.269 USP47 ENSG00000170242 ubiquitin specific peptidase 47 chr11:11862970-11980870 Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation. Ub-specific processing proteases GO:0006281;DNA repair;IEA|GO:0006284;base-excision repair;IMP|GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0010972;negative regulation of G2/M transition of mitotic cell cycle;IMP|GO:0016579;protein deubiquitination;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0034644;cellular response to UV;ISS|GO:0035520;monoubiquitinated protein deubiquitination;IDA|GO:0042493;response to drug;IMP|GO:0043066;negative regulation of apoptotic process;IMP|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0019005;SCF ubiquitin ligase complex;IDA GO:0004843;thiol-dependent ubiquitin-specific protease activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS|GO:0071987;WD40-repeat domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/USP47 https://www.ncbi.nlm.nih.gov/omim/?term=614460 http://www.informatics.jax.org/searchtool/Search.do?query=USP47&submit=Quick%0D%12655ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=USP47 19_20.212_38.212 Chr19:6565245-15124834 0.429 VAV1 ENSG00000141968 vav guanine nucleotide exchange factor 1 chr19:6772725-6857377 This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012] Body Height; Type 2 Diabetes| edema | rosiglitazone Homozygous null mutants exhibit defective T cell maturation, interleukin-2 production, and cell cycle progression. Immunoglobulin class switching is also impaired and attributed to defective T cell help. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006909;phagocytosis;IEA|GO:0006955;immune response;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0008361;regulation of cell size;IGI|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0030168;platelet activation;TAS|GO:0030217;T cell differentiation;IEA|GO:0030593;neutrophil chemotaxis;IEA|GO:0031295;T cell costimulation;TAS|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0042110;T cell activation;IEA|GO:0043065;positive regulation of apoptotic process;TAS|GO:0043087;regulation of GTPase activity;IGI|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045954;positive regulation of natural killer cell mediated cytotoxicity;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048010;vascular endothelial growth factor receptor signaling pathway;TAS|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0072593;reactive oxygen species metabolic process;IEA GO:0005622;intracellular;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0005911;cell-cell junction;IEA GO:0001784;phosphotyrosine binding;IPI|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0030676;Rac guanyl-nucleotide exchange factor activity;IEA|GO:0046872;metal ion binding;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/VAV1 https://www.uniprot.org/uniprot/P15498 https://www.ncbi.nlm.nih.gov/omim/?term=164875 http://www.informatics.jax.org/searchtool/Search.do?query=VAV1&submit=Quick%0D%8237ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VAV1 16_129.974_134.474 Chr16:87933002-90108832 0.174 VPS9D1 ENSG00000075399 VPS9 domain containing 1 chr16:89773542-89787394 GO:0015986;ATP synthesis coupled proton transport;TAS|GO:0043547;positive regulation of GTPase activity;IEA GO:0005096;GTPase activator activity;IEA|GO:0005215;transporter activity;TAS http://www.genecards.org/index.php?path=/Search/keyword/VPS9D1 https://www.uniprot.org/uniprot/Q9Y2B5 http://www.informatics.jax.org/searchtool/Search.do?query=VPS9D1&submit=Quick%0D%1544ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VPS9D1 20_50.701_78.701 Chr20:25016495-51804476 1.1 VSTM2L ENSG00000132821 V-set and transmembrane domain containing 2 like chr20:36531499-36573752 GO:0043524;negative regulation of neuron apoptotic process;IDA GO:0005576;extracellular region;IDA|GO:0005737;cytoplasm;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/VSTM2L https://www.uniprot.org/uniprot/Q96N03 https://www.ncbi.nlm.nih.gov/omim/?term=616537 http://www.informatics.jax.org/searchtool/Search.do?query=VSTM2L&submit=Quick%0D%6746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VSTM2L 20_50.701_78.701 Chr20:25016495-51804476 1.1 VSX1 ENSG00000100987 visual system homeobox 1 chr20:25051521-25062996 The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] keratoconus; Keratoconus; Tobacco Use Disorder Homozygous null mutation of this locus impairs cone bipolar cell differentiation and affects retinal electrophysiology. GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007601;visual perception;TAS|GO:0042551;neuron maturation;IEA|GO:0048666;neuron development;IBA|GO:0050896;response to stimulus;IEA|GO:0060040;retinal bipolar neuron differentiation;IEA GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0043565;sequence-specific DNA binding;IEA|GO:0044212;transcription regulatory region DNA binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/VSX1 https://www.uniprot.org/uniprot/Q9NZR4 https://hpo.jax.org/app/browse/search?q=VSX1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=605020 http://www.informatics.jax.org/searchtool/Search.do?query=VSX1&submit=Quick%0D%2632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=VSX1 19_20.212_38.212 Chr19:6565245-15124834 0.429 WDR83 ENSG00000123154 WD repeat domain 83 chr19:12777614-12786646 This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Mice homozygous for a reporter allele exhibit embryonic lethality at E10.5 due to diffuse vascularization and placental insufficiency. Mice heterozygous for the same reporter allele exhibit decreased susceptibility to kidney reperfusion injury. MAP2K and MAPK activation GO:0000165;MAPK cascade;TAS|GO:0000375;RNA splicing, via transesterification reactions;IDA|GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0008380;RNA splicing;IEA|GO:0016310;phosphorylation;IEA GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IDA|GO:0005737;cytoplasm;IEA|GO:0010008;endosome membrane;TAS|GO:0071013;catalytic step 2 spliceosome;IDA GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDR83 https://www.uniprot.org/uniprot/Q9BRX9 https://www.ncbi.nlm.nih.gov/omim/?term=616850 http://www.informatics.jax.org/searchtool/Search.do?query=WDR83&submit=Quick%0D%5494ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR83 19_20.212_38.212 Chr19:6565245-15124834 0.429 WDR83OS ENSG00000105583 WD repeat domain 83 opposite strand chr19:12778885-12782170 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/WDR83OS https://www.uniprot.org/uniprot/Q9Y284 http://www.informatics.jax.org/searchtool/Search.do?query=WDR83OS&submit=Quick%0D%3336ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WDR83OS 20_50.701_78.701 Chr20:25016495-51804476 1.1 WFDC10A ENSG00000180305 WAP four-disulfide core domain 10A chr20:44258165-44259835 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008] GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC10A http://www.informatics.jax.org/searchtool/Search.do?query=WFDC10A&submit=Quick%0D%14459ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC10A 20_50.701_78.701 Chr20:25016495-51804476 1.1 WFDC10B ENSG00000182931 WAP four-disulfide core domain 10B chr20:44313292-44333658 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode distinct isoforms. [provided by RefSeq, Jul 2008] GO:0010466;negative regulation of peptidase activity;IEA GO:0005576;extracellular region;IEA GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC10B http://www.informatics.jax.org/searchtool/Search.do?query=WFDC10B&submit=Quick%0D%14883ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC10B 20_50.701_78.701 Chr20:25016495-51804476 1.1 WFDC11 ENSG00000180083 WAP four-disulfide core domain 11 chr20:44277202-44298909 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008] Tobacco Use Disorder GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC11 http://www.informatics.jax.org/searchtool/Search.do?query=WFDC11&submit=Quick%0D%14430ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC11 20_50.701_78.701 Chr20:25016495-51804476 1.1 WFDC12 ENSG00000168703 WAP four-disulfide core domain 12 chr20:43752066-43753106 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008] GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0042742;defense response to bacterium;IEA GO:0005576;extracellular region;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC12 https://www.ncbi.nlm.nih.gov/omim/?term=609872 http://www.informatics.jax.org/searchtool/Search.do?query=WFDC12&submit=Quick%0D%12327ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC12 20_50.701_78.701 Chr20:25016495-51804476 1.1 WFDC13 ENSG00000168634 WAP four-disulfide core domain 13 chr20:44330655-44337456 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008] GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC13 http://www.informatics.jax.org/searchtool/Search.do?query=WFDC13&submit=Quick%0D%12314ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC13 20_50.701_78.701 Chr20:25016495-51804476 1.1 WFDC2 ENSG00000101443 WAP four-disulfide core domain 2 chr20:44098346-44110172 This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq, Jul 2008] Brain structure GO:0006508;proteolysis;TAS|GO:0007283;spermatogenesis;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS|GO:0070062;extracellular exosome;IDA GO:0004866;endopeptidase inhibitor activity;TAS|GO:0004867;serine-type endopeptidase inhibitor activity;IDA|GO:0004869;cysteine-type endopeptidase inhibitor activity;IEA|GO:0019828;aspartic-type endopeptidase inhibitor activity;IDA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC2 https://www.uniprot.org/uniprot/Q14508 http://www.informatics.jax.org/searchtool/Search.do?query=WFDC2&submit=Quick%0D%2741ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC2 20_50.701_78.701 Chr20:25016495-51804476 1.1 WFDC3 ENSG00000124116 WAP four-disulfide core domain 3 chr20:44376583-44420571 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC3 https://www.uniprot.org/uniprot/Q8IUB2 http://www.informatics.jax.org/searchtool/Search.do?query=WFDC3&submit=Quick%0D%5591ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC3 20_50.701_78.701 Chr20:25016495-51804476 1.1 WFDC5 ENSG00000175121 WAP four-disulfide core domain 5 chr20:43738093-43743813 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. Most WFDC proteins contain only one WFDC domain, and this encoded protein contains two WFDC domains. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008] GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC5 https://www.ncbi.nlm.nih.gov/omim/?term=605161 http://www.informatics.jax.org/searchtool/Search.do?query=WFDC5&submit=Quick%0D%13640ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC5 20_50.701_78.701 Chr20:25016495-51804476 1.1 WFDC6 ENSG00000243543 WAP four-disulfide core domain 6 chr20:44162835-44168134 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Read-through transcription exists between this gene and the upstream SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) gene. [provided by RefSeq, Nov 2010] GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC6 http://www.informatics.jax.org/searchtool/Search.do?query=WFDC6&submit=Quick%0D%19787ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC6 20_50.701_78.701 Chr20:25016495-51804476 1.1 WFDC8 ENSG00000158901 WAP four-disulfide core domain 8 chr20:44179792-44207965 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008] GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA GO:0005576;extracellular region;IEA GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC8 http://www.informatics.jax.org/searchtool/Search.do?query=WFDC8&submit=Quick%0D%10270ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC8 20_50.701_78.701 Chr20:25016495-51804476 1.1 WFDC9 ENSG00000180205 WAP four-disulfide core domain 9 chr20:44236578-44259907 The WAP-type four-disulfide core (WFDC) domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many members of the WFDC domain family. This gene encodes a protein which contains a WFDC domain, and is thus a member of the WFDC domain family. This gene and several other gene family members are clustered at 20q13.12. [provided by RefSeq, Jul 2008] Cholesterol, LDL; Mental Competency GO:0005576;extracellular region;IEA http://www.genecards.org/index.php?path=/Search/keyword/WFDC9 http://www.informatics.jax.org/searchtool/Search.do?query=WFDC9&submit=Quick%0D%14444ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WFDC9 12_78.016_106.016 Chr12:64973018-92996828 1.299 WIF1 ENSG00000156076 WNT inhibitory factor 1 chr12:65444406-65515346 The protein encoded by this gene functions to inhibit WNT proteins, which are extracellular signaling molecules that play a role in embryonic development. This protein contains a WNT inhibitory factor (WIF) domain and five epidermal growth factor (EGF)-like domains, and is thought to be involved in mesoderm segmentation. This gene functions as a tumor suppressor gene, and has been found to be epigenetically silenced in various cancers. [provided by RefSeq, Jun 2010] colorectal cancer; Bone Mineral Density; Osteoporosis; schizophrenia; asthma; Hippocampus; Bone Density; Exercise Test Homozygous null mice are viable and fertile but display increased susceptibility to spontaneous and induced osteosarcomas. Negative regulation of TCF-dependent signaling by WNT ligand antagonists GO:0007165;signal transduction;NAS|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0045600;positive regulation of fat cell differentiation;IEA GO:0005576;extracellular region;IEA GO:0005515;protein binding;IPI|GO:0017147;Wnt-protein binding;NAS http://www.genecards.org/index.php?path=/Search/keyword/WIF1 https://www.uniprot.org/uniprot/Q9Y5W5 https://www.ncbi.nlm.nih.gov/omim/?term=605186 http://www.informatics.jax.org/searchtool/Search.do?query=WIF1&submit=Quick%0D%9937ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WIF1 2_187.744_190.744 Chr2:174108399-175872495 0.223 WIPF1 ENSG00000115935 WAS/WASL interacting protein family member 1 chr2:175424300-175547644 This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] Insulin Homozygous mutants have immunological abnormalities, although lymphocyte development appears normal. Mutants show abnormal B and T cell proliferative responses, high serum immunoglobulin levels and impaired immunological synapse formation. RHO GTPases Activate WASPs and WAVEs GO:0006461;protein complex assembly;TAS|GO:0008154;actin polymerization or depolymerization;IEA|GO:0030048;actin filament-based movement;IEA|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0051707;response to other organism;IEA GO:0001726;ruffle;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005884;actin filament;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042995;cell projection;IEA GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0005522;profilin binding;TAS|GO:0017124;SH3 domain binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/WIPF1 https://www.uniprot.org/uniprot/O43516 https://hpo.jax.org/app/browse/search?q=WIPF1&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=602357 http://www.informatics.jax.org/searchtool/Search.do?query=WIPF1&submit=Quick%0D%4676ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WIPF1 20_50.701_78.701 Chr20:25016495-51804476 1.1 WISP2 ENSG00000064205 WNT1 inducible signaling pathway protein 2 chr20:43343485-43357150 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008] Bone Mineral Density Mice homozygous for a knock-out allele are viabe and overtly normal with no adult bone phenotype. GO:0001558;regulation of cell growth;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;TAS|GO:0007267;cell-cell signaling;TAS GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA GO:0005520;insulin-like growth factor binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/WISP2 https://www.uniprot.org/uniprot/O76076 https://www.ncbi.nlm.nih.gov/omim/?term=603399 http://www.informatics.jax.org/searchtool/Search.do?query=WISP2&submit=Quick%0D%1122ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WISP2 22_57.194_74.694 Chr22:45430165-51215481 0.519 WNT7B ENSG00000188064 Wnt family member 7B chr22:46316242-46373009 This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Among members of the human WNT family, this gene product is most similar to WNT7A protein. [provided by RefSeq, Oct 2008] Cleft Lip|Cleft Palate; Dupuytren Contracture Homozygous null embryos die at midgestational stages due to placental abnormalities involving the fusion of the chorion and allantois. Mice homozygous for a truncated allele display neonatal lethality, respiratory failure, and lung hemorrhage. Class B/2 (Secretin family receptors) GO:0001701;in utero embryonic development;ISS|GO:0003338;metanephros morphogenesis;ISS|GO:0007257;activation of JUN kinase activity;IEA|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0016332;establishment or maintenance of polarity of embryonic epithelium;ISS|GO:0021871;forebrain regionalization;IEP|GO:0022009;central nervous system vasculogenesis;ISS|GO:0030182;neuron differentiation;IEP|GO:0030324;lung development;ISS|GO:0031175;neuron projection development;IEA|GO:0032364;oxygen homeostasis;ISS|GO:0032536;regulation of cell projection size;IEA|GO:0042592;homeostatic process;ISS|GO:0044237;cellular metabolic process;ISS|GO:0045165;cell fate commitment;IBA|GO:0045669;positive regulation of osteoblast differentiation;ISS|GO:0046330;positive regulation of JNK cascade;IEA|GO:0048144;fibroblast proliferation;IEP|GO:0048568;embryonic organ development;ISS|GO:0048812;neuron projection morphogenesis;IEA|GO:0050808;synapse organization;ISS|GO:0051384;response to glucocorticoid;IEA|GO:0060070;canonical Wnt signaling pathway;ISS|GO:0060425;lung morphogenesis;ISS|GO:0060428;lung epithelium development;ISS|GO:0060482;lobar bronchus development;ISS|GO:0060535;trachea cartilage morphogenesis;ISS|GO:0060560;developmental growth involved in morphogenesis;ISS|GO:0060669;embryonic placenta morphogenesis;ISS|GO:0060710;chorio-allantoic fusion;ISS|GO:0061180;mammary gland epithelium development;IEP|GO:0070307;lens fiber cell development;ISS|GO:0071300;cellular response to retinoic acid;IEP|GO:0072053;renal inner medulla development;ISS|GO:0072054;renal outer medulla development;ISS|GO:0072060;outer medullary collecting duct development;ISS|GO:0072061;inner medullary collecting duct development;ISS|GO:0072089;stem cell proliferation;IEP|GO:0072205;metanephric collecting duct development;ISS|GO:0072207;metanephric epithelium development;ISS|GO:0072236;metanephric loop of Henle development;ISS GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0030666;endocytic vesicle membrane;TAS|GO:0070062;extracellular exosome;TAS GO:0005102;receptor binding;IEA|GO:0005109;frizzled binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/WNT7B https://www.ncbi.nlm.nih.gov/omim/?term=601967 http://www.informatics.jax.org/searchtool/Search.do?query=WNT7B&submit=Quick%0D%15960ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=WNT7B 19_20.212_38.212 Chr19:6565245-15124834 0.429 XAB2 ENSG00000076924 XPA binding protein 2 chr19:7684411-7694451 multiple sclerosis Homozygous null embryos die by the blastocyst stage (E3.5) and some eight-cell stage embryos do not undergo compaction. mRNA Splicing - Major Pathway GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0001824;blastocyst development;IEA|GO:0006281;DNA repair;IEA|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0006351;transcription, DNA-templated;IDA|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0008380;RNA splicing;IEA|GO:0021987;cerebral cortex development;IEA GO:0005634;nucleus;IC|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0016020;membrane;IDA|GO:0071013;catalytic step 2 spliceosome;IDA GO:0005515;protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/XAB2 https://www.uniprot.org/uniprot/Q9HCS7 https://www.ncbi.nlm.nih.gov/omim/?term=610850 http://www.informatics.jax.org/searchtool/Search.do?query=XAB2&submit=Quick%0D%1598ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XAB2 20_50.701_78.701 Chr20:25016495-51804476 1.1 XKR7 ENSG00000260903 XK related 7 chr20:30555805-30591190 GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA http://www.genecards.org/index.php?path=/Search/keyword/XKR7 http://www.informatics.jax.org/searchtool/Search.do?query=XKR7&submit=Quick%0D%20392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=XKR7 12_78.016_106.016 Chr12:64973018-92996828 1.299 YEATS4 ENSG00000127337 YEATS domain containing 4 chr12:69753483-69784576 The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] Hypertension; Hemoglobins; height; Hematocrit; response to diuretic therapy Activation of the TFAP2 (AP-2) family of transcription factors GO:0000278;mitotic cell cycle;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007010;cytoskeleton organization;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0040008;regulation of growth;IEA|GO:0043967;histone H4 acetylation;IDA|GO:0043968;histone H2A acetylation;IDA|GO:0045893;positive regulation of transcription, DNA-templated;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;TAS GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0016363;nuclear matrix;NAS|GO:0031965;nuclear membrane;IDA|GO:0035267;NuA4 histone acetyltransferase complex;IDA GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0005200;structural constituent of cytoskeleton;NAS|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YEATS4 https://www.uniprot.org/uniprot/O95619 https://www.ncbi.nlm.nih.gov/omim/?term=602116 http://www.informatics.jax.org/searchtool/Search.do?query=YEATS4&submit=Quick%0D%6025ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YEATS4 19_20.212_38.212 Chr19:6565245-15124834 0.429 YIPF2 ENSG00000130733 Yip1 domain family member 2 chr19:11033444-11039357 GO:0005794;Golgi apparatus;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030133;transport vesicle;IDA GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA http://www.genecards.org/index.php?path=/Search/keyword/YIPF2 https://www.uniprot.org/uniprot/Q9BWQ6 https://www.ncbi.nlm.nih.gov/omim/?term=617522 http://www.informatics.jax.org/searchtool/Search.do?query=YIPF2&submit=Quick%0D%6429ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YIPF2 20_50.701_78.701 Chr20:25016495-51804476 1.1 YWHAB ENSG00000166913 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta chr20:43514317-43537173 This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] systemic lupus erythematosus; Autism Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex GO:0000165;MAPK cascade;TAS|GO:0006605;protein targeting;IEA|GO:0016032;viral process;IEA|GO:0035308;negative regulation of protein dephosphorylation;IDA|GO:0035329;hippo signaling;TAS|GO:0043085;positive regulation of catalytic activity;IDA|GO:0043488;regulation of mRNA stability;TAS|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051220;cytoplasmic sequestering of protein;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0061024;membrane organization;TAS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:0000165;MAPK cascade;TAS|GO:0006605;protein targeting;IEA|GO:0016032;viral process;IEA|GO:0035308;negative regulation of protein dephosphorylation;IDA|GO:0035329;hippo signaling;TAS|GO:0043085;positive regulation of catalytic activity;IDA|GO:0043488;regulation of mRNA stability;TAS|GO:0045744;negative regulation of G-protein coupled receptor protein signaling pathway;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0051220;cytoplasmic sequestering of protein;IDA|GO:0051291;protein heterooligomerization;IEA|GO:0061024;membrane organization;TAS|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0017053;transcriptional repressor complex;IEA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0042470;melanosome;IEA|GO:0043234;protein complex;IEA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IEA|GO:0019899;enzyme binding;IPI|GO:0019904;protein domain specific binding;IPI|GO:0032403;protein complex binding;IEA|GO:0042826;histone deacetylase binding;IPI|GO:0045296;cadherin binding;IDA|GO:0050815;phosphoserine binding;IPI|GO:0051219;phosphoprotein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/YWHAB https://www.uniprot.org/uniprot/P31946 https://www.ncbi.nlm.nih.gov/omim/?term=601289 http://www.informatics.jax.org/searchtool/Search.do?query=YWHAB&submit=Quick%0D%203ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=YWHAB 22_57.194_74.694 Chr22:45430165-51215481 0.519 ZBED4 ENSG00000100426 zinc finger BED-type containing 4 chr22:50247490-50283726 schizophrenia | bipolar disorder GO:0006357;regulation of transcription from RNA polymerase II promoter;IBA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA|GO:0046983;protein dimerization activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZBED4 https://www.uniprot.org/uniprot/O75132 https://www.ncbi.nlm.nih.gov/omim/?term=612552 http://www.informatics.jax.org/searchtool/Search.do?query=ZBED4&submit=Quick%0D%2520ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZBED4 16_129.974_134.474 Chr16:87933002-90108832 0.174 ZC3H18 ENSG00000158545 zinc finger CCCH-type containing 18 chr16:88636789-88698374 Tobacco Use Disorder GO:0005634;nucleus;IEA|GO:0016607;nuclear speck;IDA|GO:0043234;protein complex;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZC3H18 http://www.informatics.jax.org/searchtool/Search.do?query=ZC3H18&submit=Quick%0D%10223ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZC3H18 11_21.322_43.322 Chr11:11392976-25199292 1.269 ZDHHC13 ENSG00000177054 zinc finger DHHC-type containing 13 chr11:19138646-19197969 Stroke Mice homozygous for an ENU mutation display wasting, weight loss, hair loss (alopecia), reduced bone mineral density (osteoporosis), and generalized amyloid deposition, which resulted in early death. GO:0007165;signal transduction;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1903830;magnesium ion transmembrane transport;IEA GO:0000139;Golgi membrane;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030660;Golgi-associated vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA GO:0004871;signal transducer activity;IMP|GO:0015095;magnesium ion transmembrane transporter activity;IEA|GO:0016409;palmitoyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC13 https://www.ncbi.nlm.nih.gov/omim/?term=612815 http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC13&submit=Quick%0D%13961ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC13 12_78.016_106.016 Chr12:64973018-92996828 1.299 ZDHHC17 ENSG00000186908 zinc finger DHHC-type containing 17 chr12:77157368-77247476 Huntington's disease Mice homozygous for a knock-out allele exhibit reminiscent of Huntington disease (decreased body weight, impaired coordination, hyperactivity, increased rearing, decreased prepulse inhibition, increased stereotypic behavior, reduced striatum, and decreased brain weight). GO:0007165;signal transduction;IEA|GO:0018345;protein palmitoylation;IDA|GO:0042953;lipoprotein transport;IDA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:1903830;magnesium ion transmembrane transport;IEA GO:0000139;Golgi membrane;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030660;Golgi-associated vesicle membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045202;synapse;IEA GO:0004871;signal transducer activity;IMP|GO:0005515;protein binding;IPI|GO:0015095;magnesium ion transmembrane transporter activity;IDA|GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IDA|GO:0042802;identical protein binding;IPI http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC17 https://www.ncbi.nlm.nih.gov/omim/?term=607799 http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC17&submit=Quick%0D%15735ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC17 12_78.016_106.016 Chr12:64973018-92996828 1.299 ZFC3H1 ENSG00000133858 zinc finger C3H1-type containing chr12:72003252-72061505 Coronary Artery Disease; Lipoproteins GO:0006396;RNA processing;IEA GO:0005615;extracellular space;IDA GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFC3H1 https://www.uniprot.org/uniprot/O60293 http://www.informatics.jax.org/searchtool/Search.do?query=ZFC3H1&submit=Quick%0D%6878ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFC3H1 20_50.701_78.701 Chr20:25016495-51804476 1.1 ZFP64 ENSG00000020256 ZFP64 zinc finger protein chr20:50668202-50820847 Amyotrophic Lateral Sclerosis|; Amyotrophic Lateral Sclerosis; Erythrocyte Count; Amyotrophic lateral sclerosis GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFP64 https://www.uniprot.org/uniprot/Q9NPA5 http://www.informatics.jax.org/searchtool/Search.do?query=ZFP64&submit=Quick%0D%656ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFP64 16_129.974_134.474 Chr16:87933002-90108832 0.174 ZFPM1 ENSG00000179588 zinc finger protein, FOG family member 1 chr16:88519725-88603424 lung cancer ; bladder cancer; lung cancer; chronic obstructive pulmonary disease Homozygous mutants have poorly vascularized yolk sacs and small, pale livers. Mutants die between embryonic days 10.5 and 12.5 with severe anemia associated with a block in megakaryocyte development. Factors involved in megakaryocyte development and platelet production GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002295;T-helper cell lineage commitment;IC|GO:0003151;outflow tract morphogenesis;IEA|GO:0003181;atrioventricular valve morphogenesis;IEA|GO:0003192;mitral valve formation;IEA|GO:0003195;tricuspid valve formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007507;heart development;IEA|GO:0007596;blood coagulation;TAS|GO:0010724;regulation of definitive erythrocyte differentiation;IDA|GO:0030218;erythrocyte differentiation;IEA|GO:0030219;megakaryocyte differentiation;IEA|GO:0030220;platelet formation;IGI|GO:0030851;granulocyte differentiation;IEA|GO:0032091;negative regulation of protein binding;IEA|GO:0032642;regulation of chemokine production;IEA|GO:0035162;embryonic hemopoiesis;IEA|GO:0035855;megakaryocyte development;IEA|GO:0045078;positive regulation of interferon-gamma biosynthetic process;IDA|GO:0045403;negative regulation of interleukin-4 biosynthetic process;IDA|GO:0045599;negative regulation of fat cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0055008;cardiac muscle tissue morphogenesis;IEA|GO:0060318;definitive erythrocyte differentiation;IEA|GO:0060319;primitive erythrocyte differentiation;IEA|GO:0060377;negative regulation of mast cell differentiation;IEA|GO:0060412;ventricular septum morphogenesis;IEA|GO:0060413;atrial septum morphogenesis;IEA|GO:0071733;transcriptional activation by promoter-enhancer looping;IEA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IDA|GO:0005737;cytoplasm;IEA|GO:0017053;transcriptional repressor complex;IDA GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0001102;RNA polymerase II activating transcription factor binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZFPM1 https://www.ncbi.nlm.nih.gov/omim/?term=601950 http://www.informatics.jax.org/searchtool/Search.do?query=ZFPM1&submit=Quick%0D%14358ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFPM1 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZGLP1 ENSG00000220201 zinc finger, GATA-like protein 1 chr19:10415479-10420556 Mutations result in female and male infertility due to failure of germ cell development. GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048599;oocyte development;IEA GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IBA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0001085;RNA polymerase II transcription factor binding;IBA|GO:0001228;transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding;IBA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0008270;zinc ion binding;IEA|GO:0043565;sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZGLP1 https://www.ncbi.nlm.nih.gov/omim/?term=611639 http://www.informatics.jax.org/searchtool/Search.do?query=ZGLP1&submit=Quick%0D%18392ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZGLP1 20_50.701_78.701 Chr20:25016495-51804476 1.1 ZHX3 ENSG00000174306 zinc fingers and homeoboxes 3 chr20:39807088-39946312 This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008] Hip GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0030154;cell differentiation;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0045892;negative regulation of transcription, DNA-templated;IDA GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0003714;transcription corepressor activity;IEA|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0046982;protein heterodimerization activity;IDA http://www.genecards.org/index.php?path=/Search/keyword/ZHX3 https://www.ncbi.nlm.nih.gov/omim/?term=609598 http://www.informatics.jax.org/searchtool/Search.do?query=ZHX3&submit=Quick%0D%13502ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZHX3 20_50.701_78.701 Chr20:25016495-51804476 1.1 ZMYND8 ENSG00000101040 zinc finger MYND-type containing 8 chr20:45837859-45985567 The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0030336;negative regulation of cell migration;IMP|GO:0051491;positive regulation of filopodium assembly;IEA|GO:0060999;positive regulation of dendritic spine development;IEA|GO:0098815;modulation of excitatory postsynaptic potential;IEA|GO:1902897;regulation of postsynaptic density protein 95 clustering;IEA|GO:1902952;positive regulation of dendritic spine maintenance;IEA|GO:1903758;negative regulation of transcription from RNA polymerase II promoter by histone modification;IMP GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0043197;dendritic spine;IEA|GO:0043198;dendritic shaft;IEA GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IBA|GO:0001106;RNA polymerase II transcription corepressor activity;ISS|GO:0003682;chromatin binding;IBA|GO:0003712;transcription cofactor activity;IBA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0035064;methylated histone binding;IDA|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IEA|GO:0070491;repressing transcription factor binding;ISS|GO:0070577;lysine-acetylated histone binding;IDA http://www.genecards.org/index.php?path=/Search/keyword/ZMYND8 https://www.uniprot.org/uniprot/Q9ULU4 https://www.ncbi.nlm.nih.gov/omim/?term=615713 http://www.informatics.jax.org/searchtool/Search.do?query=ZMYND8&submit=Quick%0D%2641ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMYND8 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF121 ENSG00000197961 zinc finger protein 121 chr19:9671029-9695209 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF121 https://www.ncbi.nlm.nih.gov/omim/?term=194628 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF121&submit=Quick%0D%16769ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF121 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF136 ENSG00000196646 zinc finger protein 136 chr19:12273879-12300064 Generic Transcription Pathway GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF136 https://www.ncbi.nlm.nih.gov/omim/?term=604078 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF136&submit=Quick%0D%16427ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF136 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF177 ENSG00000188629 zinc finger protein 177 chr19:9435021-9493293 GO:0000122;negative regulation of transcription from RNA polymerase II promoter;TAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0072562;blood microparticle;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF177 https://www.ncbi.nlm.nih.gov/omim/?term=601276 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF177&submit=Quick%0D%16072ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF177 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF20 ENSG00000132010 zinc finger protein 20 chr19:12203658-12251222 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF20 https://www.uniprot.org/uniprot/P17024 https://www.ncbi.nlm.nih.gov/omim/?term=194557 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF20&submit=Quick%0D%6618ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF20 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF266 ENSG00000174652 zinc finger protein 266 chr19:9523272-9546254 This gene encodes a protein containing many tandem zinc-finger motifs. Zinc fingers are protein or nucleic acid-binding domains, and may be involved in a variety of functions, including regulation of transcription. This gene is located in a cluster of similar genes encoding zinc finger proteins on chromosome 19. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012] Crohn Disease|Crohn's disease Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF266 https://www.ncbi.nlm.nih.gov/omim/?term=604751 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF266&submit=Quick%0D%13557ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF266 16_129.974_134.474 Chr16:87933002-90108832 0.174 ZNF276 ENSG00000158805 zinc finger protein 276 chr16:89786808-89807311 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0000775;chromosome, centromeric region;IEA|GO:0000776;kinetochore;IDA|GO:0000777;condensed chromosome kinetochore;IEA|GO:0005634;nucleus;IEA|GO:0005694;chromosome;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF276 https://www.ncbi.nlm.nih.gov/omim/?term=608460 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF276&submit=Quick%0D%10253ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF276 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF317 ENSG00000130803 zinc finger protein 317 chr19:9251056-9274100 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF317 https://www.uniprot.org/uniprot/Q96PQ6 https://www.ncbi.nlm.nih.gov/omim/?term=613864 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF317&submit=Quick%0D%6447ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF317 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF333 ENSG00000160961 zinc finger protein 333 chr19:14800613-14844558 Depressive Disorder, Major Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF333 https://www.ncbi.nlm.nih.gov/omim/?term=611811 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF333&submit=Quick%0D%10538ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF333 20_50.701_78.701 Chr20:25016495-51804476 1.1 ZNF334 ENSG00000198185 zinc finger protein 334 chr20:45129701-45142198 This gene encodes a member of the C2H2 zinc finger family. The encoded protein contains a Krueppel-associated box, fourteen C2H2 zinc finger domains, and four C2H2-type/integrase DNA-binding domains. Decreased expression of this gene may be a marker for rheumatoid arthritis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] Coronary Artery Disease Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF334 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF334&submit=Quick%0D%16842ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF334 20_50.701_78.701 Chr20:25016495-51804476 1.1 ZNF335 ENSG00000198026 zinc finger protein 335 chr20:44577292-44600833 The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008] Tobacco Use Disorder Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. Mice homozygous for a conditional allele activated in the brain exhibit loss of cortical neurons and decreased brain size. Activation of anterior HOX genes in hindbrain development during early embryogenesis GO:0001701;in utero embryonic development;IEA|GO:0002052;positive regulation of neuroblast proliferation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007420;brain development;IMP|GO:0010468;regulation of gene expression;IEA|GO:0021895;cerebral cortex neuron differentiation;IEA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0048812;neuron projection morphogenesis;IEA|GO:0048854;brain morphogenesis;IEA|GO:0050671;positive regulation of lymphocyte proliferation;IMP|GO:0050767;regulation of neurogenesis;IEA|GO:0050769;positive regulation of neurogenesis;IMP|GO:0051569;regulation of histone H3-K4 methylation;IEA|GO:0080182;histone H3-K4 trimethylation;IMP GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0035097;histone methyltransferase complex;IEA GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF335 https://hpo.jax.org/app/browse/search?q=ZNF335&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=610827 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF335&submit=Quick%0D%16789ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF335 20_50.701_78.701 Chr20:25016495-51804476 1.1 ZNF337 ENSG00000130684 zinc finger protein 337 chr20:25654851-25677477 This gene encodes a zinc finger domain containing protein. The function of this protein has yet to be determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF337 https://www.uniprot.org/uniprot/Q9Y3M9 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF337&submit=Quick%0D%6410ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF337 20_50.701_78.701 Chr20:25016495-51804476 1.1 ZNF341 ENSG00000131061 zinc finger protein 341 chr20:32319463-32380075 Body Height GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF341 https://www.uniprot.org/uniprot/Q9BYN7 https://hpo.jax.org/app/browse/search?q=ZNF341&navFilter=all http://www.informatics.jax.org/searchtool/Search.do?query=ZNF341&submit=Quick%0D%6488ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF341 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF358 ENSG00000198816 zinc finger protein 358 chr19:7580178-7585912 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0019827;stem cell population maintenance;ISS|GO:0021915;neural tube development;ISS|GO:0035115;embryonic forelimb morphogenesis;ISS GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF358 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF358&submit=Quick%0D%17020ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF358 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF414 ENSG00000133250 zinc finger protein 414 chr19:8575462-8579048 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF414 https://www.uniprot.org/uniprot/Q96IQ9 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF414&submit=Quick%0D%6819ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF414 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF426 ENSG00000130818 zinc finger protein 426 chr19:9638667-9649303 Kaposi's sarcoma-associated herpesvirus (KSHV) can be reactivated from latency by the viral protein RTA. The protein encoded by this gene is a zinc finger transcriptional repressor that interacts with RTA to modulate RTA-mediated reactivation of KSHV. While the encoded protein can repress KSHV reactivation, RTA can induce degradation of this protein through the ubiquitin-proteasome pathway to overcome the repression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF426 https://www.uniprot.org/uniprot/Q9BUY5 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF426&submit=Quick%0D%6452ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF426 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF433 ENSG00000197647 zinc finger protein 433 chr19:12125547-12146556 Multiple Sclerosis; multiple sclerosis Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF433 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF433&submit=Quick%0D%16685ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF433 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF439 ENSG00000171291 zinc finger protein 439 chr19:11959541-11994565 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF439 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF439&submit=Quick%0D%12892ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF439 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF44 ENSG00000197857 zinc finger protein 44 chr19:12335501-12405702 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF44 https://www.ncbi.nlm.nih.gov/omim/?term=194542 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF44&submit=Quick%0D%16732ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF44 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF440 ENSG00000171295 zinc finger protein 440 chr19:11925099-11946016 Tobacco Use Disorder Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF440 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF440&submit=Quick%0D%12893ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF440 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF441 ENSG00000197044 zinc finger protein 441 chr19:11877815-11894893 Tobacco Use Disorder Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF441 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF441&submit=Quick%0D%16527ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF441 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF442 ENSG00000198342 zinc finger protein 442 chr19:12460185-12476719 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF442 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF442&submit=Quick%0D%16872ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF442 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF443 ENSG00000180855 zinc finger protein 443 chr19:12540521-12551926 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;TAS|GO:0006950;response to stress;TAS GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF443 https://www.ncbi.nlm.nih.gov/omim/?term=606697 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF443&submit=Quick%0D%14535ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF443 16_129.974_134.474 Chr16:87933002-90108832 0.174 ZNF469 ENSG00000225614 zinc finger protein 469 chr16:88493879-88507165 This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008] Blind Vision|Blindness|Corneal Diseases|Syndrome GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF469 https://hpo.jax.org/app/browse/search?q=ZNF469&navFilter=all https://www.ncbi.nlm.nih.gov/omim/?term=612078 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF469&submit=Quick%0D%18623ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF469 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF490 ENSG00000188033 zinc finger protein 490 chr19:12688775-12750912 Bipolar Disorder Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF490 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF490&submit=Quick%0D%15951ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF490 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF491 ENSG00000177599 zinc finger protein 491 chr19:11908482-11920437 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF491 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF491&submit=Quick%0D%14053ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF491 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF557 ENSG00000130544 zinc finger protein 557 chr19:7069455-7087979 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF557 https://www.uniprot.org/uniprot/Q8N988 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF557&submit=Quick%0D%6389ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF557 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF558 ENSG00000167785 zinc finger protein 558 chr19:8920380-8943004 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008150;biological_process;ND GO:0005575;cellular_component;ND|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF558 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF558&submit=Quick%0D%12118ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF558 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF559 ENSG00000188321 zinc finger protein 559 chr19:9434448-9461838 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF559 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF559&submit=Quick%0D%16012ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF559 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF559-ZNF177 ENSG00000270011 ZNF559-ZNF177 readthrough chr19:9434850-9493293 This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 559 (ZNF559) and zinc finger protein 177 (ZNF177) genes on chromosome 19. Alternative splicing results in multiple transcript variants, which encode the ZNF177 protein due to either leaky scanning by ribosomes, or absence of the ZNF559 start codon. [provided by RefSeq, Jan 2011] GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF559-ZNF177 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF559-ZNF177&submit=Quick%0D%20788ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF559-ZNF177 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF560 ENSG00000198028 zinc finger protein 560 chr19:9577183-9609283 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF560 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF560&submit=Quick%0D%16790ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF560 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF561 ENSG00000171469 zinc finger protein 561 chr19:9715356-9732075 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF561 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF561&submit=Quick%0D%12935ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF561 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF562 ENSG00000171466 zinc finger protein 562 chr19:9759330-9785776 Tobacco Use Disorder Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF562 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF562&submit=Quick%0D%12933ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF562 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF563 ENSG00000188868 zinc finger protein 563 chr19:12428291-12444534 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF563 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF563&submit=Quick%0D%16128ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF563 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF564 ENSG00000249709 zinc finger protein 564 chr19:12636184-12662356 Generic Transcription Pathway GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IBA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF564 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF564&submit=Quick%0D%19929ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF564 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF625 ENSG00000257591 zinc finger protein 625 chr19:12251032-12267546 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF625 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF625&submit=Quick%0D%20245ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF625 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF625-ZNF20 ENSG00000213297 ZNF625-ZNF20 readthrough (NMD candidate) chr19:12242932-12267546 This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 625 (ZNF625) and zinc finger protein 20 (ZNF20) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF625-ZNF20 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF625-ZNF20&submit=Quick%0D%18110ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF625-ZNF20 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF627 ENSG00000198551 zinc finger protein 627 chr19:11670189-11729950 myocardial infarction; Myocardial Infarction Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF627 https://www.ncbi.nlm.nih.gov/omim/?term=612248 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF627&submit=Quick%0D%16922ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF627 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF653 ENSG00000161914 zinc finger protein 653 chr19:11594242-11616738 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF653 https://www.ncbi.nlm.nih.gov/omim/?term=611371 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF653&submit=Quick%0D%10621ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF653 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF69 ENSG00000198429 zinc finger protein 69 chr19:11998599-12025144 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF69 https://www.ncbi.nlm.nih.gov/omim/?term=194543 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF69&submit=Quick%0D%16891ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF69 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF699 ENSG00000196110 zinc finger protein 699 chr19:9404951-9420514 alcohol dependence Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF699 https://www.ncbi.nlm.nih.gov/omim/?term=609571 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF699&submit=Quick%0D%16258ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF699 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF700 ENSG00000196757 zinc finger protein 700 chr19:12035883-12061588 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF700 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF700&submit=Quick%0D%16458ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF700 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF709 ENSG00000242852 zinc finger protein 709 chr19:12572373-12662288 Erythrocyte Count Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF709 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF709&submit=Quick%0D%19746ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF709 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF763 ENSG00000197054 zinc finger protein 763 chr19:12035890-12090105 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0070062;extracellular exosome;IDA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF763 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF763&submit=Quick%0D%16531ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF763 16_129.974_134.474 Chr16:87933002-90108832 0.174 ZNF778 ENSG00000170100 zinc finger protein 778 chr16:89284118-89295363 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] Blood Pressure Determination Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF778 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF778&submit=Quick%0D%12632ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF778 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF788 ENSG00000214189 chr19:12203078-12225491 GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA GO:0003676;nucleic acid binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF788 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF788&submit=Quick%0D%18219ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF788 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF791 ENSG00000173875 zinc finger protein 791 chr19:12721732-12742735 HIV Infections|[X]Human immunodeficiency virus disease Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF791 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF791&submit=Quick%0D%13438ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF791 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF799 ENSG00000196466 zinc finger protein 799 chr19:12500830-12512085 Generic Transcription Pathway GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF799 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF799&submit=Quick%0D%16375ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF799 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF823 ENSG00000197933 zinc finger protein 823 chr19:11832080-11849824 Blood Pressure GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF823 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF823&submit=Quick%0D%16758ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF823 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF844 ENSG00000223547 zinc finger protein 844 chr19:12175514-12192380 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF844 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF844&submit=Quick%0D%18483ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF844 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF846 ENSG00000196605 zinc finger protein 846 chr19:9862669-9903856 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF846 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF846&submit=Quick%0D%16417ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF846 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZNF878 ENSG00000257446 zinc finger protein 878 chr19:12154620-12167127 GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA GO:0003676;nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNF878 http://www.informatics.jax.org/searchtool/Search.do?query=ZNF878&submit=Quick%0D%20242ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF878 20_50.701_78.701 Chr20:25016495-51804476 1.1 ZNFX1 ENSG00000124201 zinc finger NFX1-type containing 1 chr20:47854483-47894963 GO:0006355;regulation of transcription, DNA-templated;IEA GO:0005634;nucleus;IEA GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0003723;RNA binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZNFX1 https://www.uniprot.org/uniprot/Q9P2E3 http://www.informatics.jax.org/searchtool/Search.do?query=ZNFX1&submit=Quick%0D%5613ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNFX1 20_50.701_78.701 Chr20:25016495-51804476 1.1 ZSWIM1 ENSG00000168612 zinc finger SWIM-type containing 1 chr20:44509866-44513905 GO:0005634;nucleus;IEA GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZSWIM1 http://www.informatics.jax.org/searchtool/Search.do?query=ZSWIM1&submit=Quick%0D%12309ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSWIM1 20_50.701_78.701 Chr20:25016495-51804476 1.1 ZSWIM3 ENSG00000132801 zinc finger SWIM-type containing 3 chr20:44486256-44507761 GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZSWIM3 https://www.uniprot.org/uniprot/Q96MP5 http://www.informatics.jax.org/searchtool/Search.do?query=ZSWIM3&submit=Quick%0D%6744ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSWIM3 19_20.212_38.212 Chr19:6565245-15124834 0.429 ZSWIM4 ENSG00000132003 zinc finger SWIM-type containing 4 chr19:13906274-13943044 GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA http://www.genecards.org/index.php?path=/Search/keyword/ZSWIM4 https://www.uniprot.org/uniprot/Q9H7M6 http://www.informatics.jax.org/searchtool/Search.do?query=ZSWIM4&submit=Quick%0D%6615ASearch https://www.ncbi.nlm.nih.gov/pubmed/?term=ZSWIM4