FertilityOnline | Spermatogenes

Detail Information of SG001234

General information

SG ID

SG001234

Gene Name

Ehmt2

Gene Synonyms/Alias

Bat8, D17Ertd710e, G9a, KMT1C, NG36

Organism

Mus musculus

NCBI Taxonomy ID

10090

Ensembl Gene ID

ENSMUSG00000013787

Ensembl Protein ID

ENSMUSP00000109667 ENSMUSP00000077208 ENSMUSP00000094955 ENSMUSP00000013931
ENSMUSP00000121838 ENSMUSP00000134749 ENSMUSP00000134089

Description

Euchromatic histone lysine N-methyltransferase 2 [Mus musculus (house mouse)]

Orthology

Species	Uniprot	Gene stable ID	Gene Name
Rattus norvegicus	Q6MG72	RGD:1302972	Ehmt2
Danio rerio	A0A0G2KCN9	Ensembl:ENSDARG00000102325	-
Drosophila melanogaster	M9PGH7	FlyBase:FBgn0040372	G9a

More Orthology >>

Status

Reviewed functional gene

Functional information

Function in Stage	meiotic
Function in Cell Type	Spermatocyte
The information of related literature	1. Abstract Histone H3 lysine 9 (H3K9) methylation is a crucial epigenetic mark of heterochromatin formation and transcriptional silencing. G9a is a major mammalian H3K9 methyltransferase at euchromatin and is essential for mouse embryogenesis. ... PMID: [17599069]
Figures for illustrating the function of this protein/gene	Tachibana, M., Nozaki, M., Takeda, N. and Shinkai, Y. (2007) Functional dynamics of H3K9 methylation during meiotic prophase progression. EMBO J 26(14): 3346-59. PMID: [17599069] Tachibana, M., Nozaki, M., Takeda, N. and Shinkai, Y. (2007) Functional dynamics of H3K9 methylation during meiotic prophase progression. EMBO J 26(14): 3346-59. PMID: [17599069] Tachibana, M., Nozaki, M., Takeda, N. and Shinkai, Y. (2007) Functional dynamics of H3K9 methylation during meiotic prophase progression. EMBO J 26(14): 3346-59. PMID: [17599069] Tachibana, M., Nozaki, M., Takeda, N. and Shinkai, Y. (2007) Functional dynamics of H3K9 methylation during meiotic prophase progression. EMBO J 26(14): 3346-59. PMID: [17599069] Tachibana, M., Nozaki, M., Takeda, N. and Shinkai, Y. (2007) Functional dynamics of H3K9 methylation during meiotic prophase progression. EMBO J 26(14): 3346-59. PMID: [17599069] Tachibana, M., Nozaki, M., Takeda, N. and Shinkai, Y. (2007) Functional dynamics of H3K9 methylation during meiotic prophase progression. EMBO J 26(14): 3346-59. PMID: [17599069] Tachibana, M., Nozaki, M., Takeda, N. and Shinkai, Y. (2007) Functional dynamics of H3K9 methylation during meiotic prophase progression. EMBO J 26(14): 3346-59. PMID: [17599069] Tachibana, M., Nozaki, M., Takeda, N. and Shinkai, Y. (2007) Functional dynamics of H3K9 methylation during meiotic prophase progression. EMBO J 26(14): 3346-59. PMID: [17599069]
Functional description	-
Protein complex
Pathway	ReactomeID: R-MMU-6804760 Regulation of TP53 Activity through Methylation
Human diseases
OMIM
Spermatogenesis failure	N/A

Expression and location

Tissue specificity (in Homo sapiens)	Expressed highest in cerebral cortex
Testicular Cell specificity (in Mus musculus)	Expressed highest in spermatid
Testicular scRNA-seq (in Homo sapiens)	View detail
Testicular scRNA-seq (in Mus musculus)	View detail
Subcellular location	Nucleus. Chromosome

Mutation in human orthology

Variants founded in public databases

1000G (Phase 3): 453 ESP6500 (SI-V2): 189 ExAC (r0.3.1): 1169 dbSNP(Build 147): 1800

Variants founded in in-house datasets

Chinese health control (254): 12 European health control (283): Chinese patients (168):

De novo Mutation Rate

Gene Name	DNMR-average	DNMR-SC
EHMT2	0.0000618725	0.0000681387

Other information

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Sub-Ontologies	Accession	Term	Evidence
Biological Process	GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP
Biological Process	GO:0006275	regulation of DNA replication	ISO
Biological Process	GO:0006306	DNA methylation	IDA
Biological Process	GO:0006357	regulation of transcription from RNA polymerase II promoter	IMP
Biological Process	GO:0007130	synaptonemal complex assembly	IMP
Biological Process	GO:0007281	germ cell development	IMP
Biological Process	GO:0007286	spermatid development	IMP
Biological Process	GO:0007616	long-term memory	IEA
Biological Process	GO:0009267	cellular response to starvation	ISO
Biological Process	GO:0009566	fertilization	IMP
Biological Process	GO:0010424	DNA methylation on cytosine within a CG sequence	IMP
Biological Process	GO:0016569	covalent chromatin modification	IEA
Biological Process	GO:0016571	histone methylation	ISO
Biological Process	GO:0018027	peptidyl-lysine dimethylation	ISS
Biological Process	GO:0031667	response to nutrient levels	IEA
Biological Process	GO:0032259	methylation	IEA
Biological Process	GO:0034968	histone lysine methylation	IEA
Biological Process	GO:0035265	organ growth	IMP
Biological Process	GO:0035690	cellular response to drug	IEA
Biological Process	GO:0036166	phenotypic switching	IMP
Biological Process	GO:0044030	regulation of DNA methylation	IEA
Biological Process	GO:0045471	response to ethanol	IEA
Biological Process	GO:0048148	behavioral response to cocaine	IMP
Biological Process	GO:0048665	neuron fate specification	IMP
Biological Process	GO:0051567	histone H3-K9 methylation	IMP
Biological Process	GO:0051569	regulation of histone H3-K4 methylation	IEA
Biological Process	GO:0051570	regulation of histone H3-K9 methylation	IEA
Biological Process	GO:0060992	response to fungicide	IEA
Biological Process	GO:0070734	histone H3-K27 methylation	IMP
Biological Process	GO:0071314	cellular response to cocaine	IDA
Biological Process	GO:1902902	negative regulation of autophagosome assembly	IMP
Cellular Component	GO:0000790	nuclear chromatin	ISO
Cellular Component	GO:0005634	nucleus	IEA
Cellular Component	GO:0005654	nucleoplasm	ISO
Cellular Component	GO:0005694	chromosome	IEA
Cellular Component	GO:0016607	nuclear speck	ISO
Molecular Function	GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA
Molecular Function	GO:0002039	p53 binding	ISO
Molecular Function	GO:0005515	protein binding	IPI
Molecular Function	GO:0008168	methyltransferase activity	IEA
Molecular Function	GO:0008270	zinc ion binding	IEA
Molecular Function	GO:0016279	protein-lysine N-methyltransferase activity	ISO
Molecular Function	GO:0016740	transferase activity	IEA
Molecular Function	GO:0018024	histone-lysine N-methyltransferase activity	IEA
Molecular Function	GO:0046872	metal ion binding	IEA
Molecular Function	GO:0046974	histone methyltransferase activity (H3-K9 specific)	IDA
Molecular Function	GO:0046976	histone methyltransferase activity (H3-K27 specific)	IDA
Molecular Function	GO:0070742	C2H2 zinc finger domain binding	ISO
Molecular Function	GO:1990841	promoter-specific chromatin binding	IDA

Protein-Protein interaction information

Protein A	Gene name A	Protein B	Gene name B	Evidence
ENSMUSP00000013931	Ehmt2	ENSMUSP00000013949	Birc3	experimental
ENSMUSP00000013931	Ehmt2	ENSMUSP00000013970	Pip4k2c	experimental
ENSMUSP00000013931	Ehmt2	ENSMUSP00000013995	Abca4	experimental

More PPIs >>

Protein family and Domain

Q9Z148