• Gene id: 10919

Gene Summary

• Gene Symbol: EHMT2   Gene   UCSC   Ensembl
• Aliases: BAT8, C6orf30, G9A, GAT8, KMT1C, NG36
• Gene name: euchromatic histone lysine methyltransferase 2
• Alternate names: histone-lysine N-methyltransferase EHMT2, G9A histone methyltransferase, H3-K9-HMTase 3, HLA-B associated transcript 8, ankyrin repeat-containing protein, euchromatic histone-lysine N-methyltransferase 2, histone H3-K9 methyltransferase 3, histone-lysine N-methy,
• Gene location: 6p21.33 (83431077: 83210401)     Exons: 14     NC_000006.12
• Gene summary(Entrez): This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought
• OMIM: 604599

Protein Summary

• Protein general information: Q96KQ7  
  • Name: Histone lysine N methyltransferase EHMT2 (EC 2.1.1. ) (Euchromatic histone lysine N methyltransferase 2) (HLA B associated transcript 8) (Histone H3 K9 methyltransferase 3) (H3 K9 HMTase 3) (Lysine N methyltransferase 1C) (Protein G9a)
  • Length: 1210  
  • Mass: 132370
  • Tissue specificity: Expressed in all tissues examined, with high levels in fetal liver, thymus, lymph node, spleen and peripheral blood leukocytes and lower level in bone marrow. {ECO
• Sequence:

  MAAAAGAAAAAAAEGEAPAEMGALLLEKETRGATERVHGSLGDTPRSEETLPKATPDSLEPAGPSSPASVTVTVG
  DEGADTPVGATPLIGDESENLEGDGDLRGGRILLGHATKSFPSSPSKGGSCPSRAKMSMTGAGKSPPSVQSLAMR
  LLSMPGAQGAAAAGSEPPPATTSPEGQPKVHRARKTMSKPGNGQPPVPEKRPPEIQHFRMSDDVHSLGKVTSDLA
  KRRKLNSGGGLSEELGSARRSGEVTLTKGDPGSLEEWETVVGDDFSLYYDSYSVDERVDSDSKSEVEALTEQLSE
  EEEEEEEEEEEEEEEEEEEEEEEDEESGNQSDRSGSSGRRKAKKKWRKDSPWVKPSRKRRKREPPRAKEPRGVNG
  VGSSGPSEYMEVPLGSLELPSEGTLSPNHAGVSNDTSSLETERGFEELPLCSCRMEAPKIDRISERAGHKCMATE
  SVDGELSGCNAAILKRETMRPSSRVALMVLCETHRARMVKHHCCPGCGYFCTAGTFLECHPDFRVAHRFHKACVS
  QLNGMVFCPHCGEDASEAQEVTIPRGDGVTPPAGTAAPAPPPLSQDVPGRADTSQPSARMRGHGEPRRPPCDPLA
  DTIDSSGPSLTLPNGGCLSAVGLPLGPGREALEKALVIQESERRKKLRFHPRQLYLSVKQGELQKVILMLLDNLD
  PNFQSDQQSKRTPLHAAAQKGSVEICHVLLQAGANINAVDKQQRTPLMEAVVNNHLEVARYMVQRGGCVYSKEED
  GSTCLHHAAKIGNLEMVSLLLSTGQVDVNAQDSGGWTPIIWAAEHKHIEVIRMLLTRGADVTLTDNEENICLHWA
  SFTGSAAIAEVLLNARCDLHAVNYHGDTPLHIAARESYHDCVLLFLSRGANPELRNKEGDTAWDLTPERSDVWFA
  LQLNRKLRLGVGNRAIRTEKIICRDVARGYENVPIPCVNGVDGEPCPEDYKYISENCETSTMNIDRNITHLQHCT
  CVDDCSSSNCLCGQLSIRCWYDKDGRLLQEFNKIEPPLIFECNQACSCWRNCKNRVVQSGIKVRLQLYRTAKMGW
  GVRALQTIPQGTFICEYVGELISDAEADVREDDSYLFDLDNKDGEVYCIDARYYGNISRFINHLCDPNIIPVRVF
  MLHQDLRFPRIAFFSSRDIRTGEELGFDYGDRFWDIKSKYFTCQCGSEKCKHSAEAIALEQSRLARLDPHPELLP
  ELGSLPPVNT

• Structural information:
  • Protein Domains: (972..103-)
    (/note="Pre-SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00157-)
    (1038..115-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190-)
    (1164..118-)
    (/note="Post-SET"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR038034  IPR007728   IPR001214  
  • Prosite: PS50297 PS50088 PS50867 PS50280
  • PDB: 2O8J 3DM1 3K5K 3RJW 4NVQ 5JHN 5JIN 5JIY 5JJ0 5T0K 5T0M 5TTF 5TUY 5V9I 5VSC 5VSE 6MM1
  • PDBsum: 2O8J 3DM1 3K5K 3RJW 4NVQ 5JHN 5JIN 5JIY 5JJ0 5T0K 5T0M 5TTF 5TUY 5V9I 5VSC 5VSE 6MM1
  • DIP: 34461
  • STRING: ENSP00000364678
• Other Databases: GeneCards:  EHMT2  Malacards:  EHMT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018027	peptidyl-lysine dimethylation	IDA	biological process
GO:0016279	protein-lysine N-methyltransferase activity	IDA	molecular function
GO:0046976	histone methyltransferase activity (H3-K27 specific)	ISS	molecular function
GO:0046974	histone methyltransferase activity (H3-K9 specific)	ISS	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IMP	molecular function
GO:0016571	histone methylation	IMP	biological process
GO:0006306	DNA methylation	ISS	biological process
GO:0002039	p53 binding	IPI	molecular function
GO:0006275	regulation of DNA replication	IMP	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002039	p53 binding	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0034968	histone lysine methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:1990841	promoter-specific chromatin binding	IDA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IDA	molecular function
GO:0034968	histone lysine methylation	IDA	biological process
GO:0009267	cellular response to starvation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0070317	negative regulation of G0 to G1 transition	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0051567	histone H3-K9 methylation	IEA	biological process
GO:0070734	histone H3-K27 methylation	IEA	biological process
GO:0070742	C2H2 zinc finger domain binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04211	Longevity regulating pathway
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Idiopathic pulmonary fibrosis	PMID:24652950
Melanoma	PMID:24658378
Esophagus squamous cell carcinoma	PMID:24805087
lung adenocarcinoma	PMID:20940408
Alopecia areata	PMID:21936853
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray