SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00000420 
UniProt Accession
Theoretical PI
9.47  
Molecular Weight
28393 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
SRD5A2 
Gene Synonyms/Alias
 
Protein Name
3-oxo-5-alpha-steroid 4-dehydrogenase 2 
Protein Synonyms/Alias
EC=1.3.1.30 5 alpha-SR2; SR type 2; Steroid 5-alpha-reductase 2;S5AR 2 Type II 5-alpha reductase; 
Organism
Homo sapiens (Human) 
NCBI Taxonomy ID
9606 
Chromosome Location
chr:2;31747550-31806136;-1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
In patients with steroid 5alpha-reductase 2 deficiency the impaired second step of germ cell maturation results in defective transformation of spermatogonia into spermatocytes. The position of the undescended testis appears to have no major pathological impact on the development of germ cells in patients with steroid 5alpha-reductase 2 deficiency. 
The information of related literatures
1. F. Hadziselimovic and N. Dessouky (2008) Differences in testicular development between 5alpha-reductase 2 deficiency and isolated bilateral cryptorchidism. J Urol 180(3): 1116-20. 

Abstract
PURPOSE PMID: [18639287] 

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Figures for illustrating the function of this protein/gene
Function
Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone intotheir corresponding 5-alpha-3-oxosteroids. It plays a central rolein sexual differentiation and androgen physiology. 
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Subcellular Location
Microsome membrane; Multi-pass membraneprotein. Endoplasmic reticulum membrane; Multi-pass membraneprotein (Potential). 
Tissue Specificity
Expressed in high levels in the prostate andmany other androgen-sensitive tissues. 
Gene Ontology
GO IDGO termEvidence
GO:0005789 C:endoplasmic reticulum membrane TAS:Reactome.
GO:0016021 C:integral to membrane IEA:UniProtKB-KW.
GO:0003865 F:3-oxo-5-alpha-steroid 4-dehydrogenase activity IEA:InterPro.
GO:0050213 F:progesterone 5-alpha-reductase activity IEA:EC.
GO:0009917 F:sterol 5-alpha reductase activity IDA:UniProtKB.
GO:0006702 P:androgen biosynthetic process TAS:Reactome.
GO:0030154 P:cell differentiation IEA:UniProtKB-KW.
GO:0007267 P:cell-cell signaling TAS:UniProtKB.
GO:0008584 P:male gonad development IMP:UniProtKB.
GO:0044281 P:small molecule metabolic process TAS:Reactome.
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Interpro
IPR016636;    3-oxo-5-alpha-steroid_4-DH.
IPR001104;    3-oxo-5_a-steroid_4-DH_C.
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Pfam
PF02544;    Steroid_dh;    1.
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SMART
PROSITE
PS50244;    S5A_REDUCTASE;    1.
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PRINTS
Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1    254       3-oxo-5-alpha-steroid 4-dehydrogenase 2.
                             /FTId=PRO_0000213676.
TRANSMEM      8     28       Helical; (Potential).
TRANSMEM     72     92       Helical; (Potential).
TRANSMEM    146    166       Helical; (Potential).
TRANSMEM    206    226       Helical; (Potential).
VARIANT      49     49       A -> T (in dbSNP:rs9282858).
                             /FTId=VAR_013104.
VARIANT      55     55       L -> Q (in PPSH).
                             /FTId=VAR_013105.
VARIANT      85     85       G -> D (in PPSH).
                             /FTId=VAR_013130.
VARIANT      89     89       V -> L (in dbSNP:rs523349).
                             /FTId=VAR_013131.
VARIANT     113    113       L -> V (in dbSNP:rs28383048).
                             /FTId=VAR_022302.
VARIANT     115    115       G -> D (in PPSH).
                             /FTId=VAR_013106.
VARIANT     123    123       G -> R (in PPSH).
                             /FTId=VAR_025854.
VARIANT     126    126       Q -> R (in PPSH).
                             /FTId=VAR_025855.
VARIANT     145    145       R -> W (in PPSH).
                             /FTId=VAR_025851.
VARIANT     157    157       Missing (in PPSH).
                             /FTId=VAR_013107.
VARIANT     158    158       G -> R (in PPSH).
                             /FTId=VAR_025856.
VARIANT     181    181       P -> L (in PPSH).
                             /FTId=VAR_025852.
VARIANT     183    183       G -> S (in PPSH).
                             /FTId=VAR_013108.
VARIANT     196    196       G -> S (in PPSH).
                             /FTId=VAR_013109.
VARIANT     197    197       E -> D (in PPSH).
                             /FTId=VAR_013110.
VARIANT     200    200       E -> K (in PPSH).
                             /FTId=VAR_013132.
VARIANT     203    203       G -> S (in dbSNP:rs9332961).
                             /FTId=VAR_059791.
VARIANT     207    207       A -> D (in PPSH).
                             /FTId=VAR_025857.
VARIANT     212    212       P -> R (in PPSH).
                             /FTId=VAR_013111.
VARIANT     224    224       L -> H (in dbSNP:rs9332963).
                             /FTId=VAR_059792.
VARIANT     224    224       L -> M (in dbSNP:rs9332963).
                             /FTId=VAR_037585.
VARIANT     227    227       R -> Q (in micropenis; dbSNP:rs9332964).
                             /FTId=VAR_037586.
VARIANT     228    228       A -> T (in PPSH).
                             /FTId=VAR_013112.
VARIANT     231    231       H -> R (in PPSH).
                             /FTId=VAR_013113.
VARIANT     235    235       Y -> F (in PPSH).
                             /FTId=VAR_025853.
VARIANT     245    245       S -> Y (in PPSH).
                             /FTId=VAR_013133.
VARIANT     246    246       R -> Q (in PPSH; dbSNP:rs9332967).
                             /FTId=VAR_013134.
VARIANT     246    246       R -> W (in PPSH).
                             /FTId=VAR_005609.
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Nucleotide Sequence
Length: 2437 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 254 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
UniProt
 Gene Symbol Ref Databases
Other Protein-Protein interaction resources
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