Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 10919
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 (31897706: 31879758)     Exons: 29     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 to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
OMIM 604599

Protein Summary
Protein general information Q96KQ7  

Name: Histone lysine N methyltransferase EHMT2 (EC 2.1.1. ) (EC 2.1.1.43) (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: 132,370

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
 Pre-SET. (972-1035)
SET. (1038-1155)
Post-SET. (1164-1180)
Interpro:  IPR002110 IPR020683 IPR007728 IPR001214
Prosite:   PS50297 PS50088 PS50867 PS50280

Pfam:  		 PF12796 PF05033 PF00856

PDB:  		 2O8J 3DM1 3K5K 3RJW 4NVQ 5JHN 5JIN 5JIY 5JJ0 5T0K 5T0M 5TTF 5TUY
PDBsum:   2O8J 3DM1 3K5K 3RJW 4NVQ 5JHN 5JIN 5JIY 5JJ0 5T0K 5T0M 5TTF 5TUY

DIP:  		 34461
MINT:   1441977
STRING:   ENSP00000364687;
Other Databases GeneCards:  EHMT2;  Malacards:  EHMT2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0000790 nuclear chromatin
 IDA cellular_component
GO:0002039 p53 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
 ISS cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005654 nucleoplasm
 IDA 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:0006275 regulation of DNA replica
tion
 IMP biological_process
GO:0006306 DNA methylation
 ISS biological_process
GO:0008270 zinc ion binding
 IEA molecular_function
GO:0009267 cellular response to star
vation
 IDA biological_process
GO:0016279 protein-lysine N-methyltr
ansferase activity
 IDA molecular_function
GO:0016571 histone methylation
 IMP biological_process
GO:0018024 histone-lysine N-methyltr
ansferase activity
 IDA molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 IMP molecular_function
GO:0018027 peptidyl-lysine dimethyla
tion
 IDA biological_process
GO:0034968 histone lysine methylatio
n
 IDA biological_process
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 ISS molecular_function
GO:0046976 histone methyltransferase
activity (H3-K27 specifi
c)
 ISS molecular_function
GO:0051567 histone H3-K9 methylation
 IEA biological_process
GO:0070734 histone H3-K27 methylatio
n
 IEA biological_process
GO:0070742 C2H2 zinc finger domain b
inding
 IPI molecular_function
GO:1901796 regulation of signal tran
sduction by p53 class med
iator
 TAS biological_process
GO:1990841 promoter-specific chromat
in binding
 IDA molecular_function
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0000790 nuclear chromatin
 IDA cellular_component
GO:0002039 p53 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:0005634 nucleus
 ISS cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005654 nucleoplasm
 IDA 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:0005694 chromosome
 IEA cellular_component
GO:0005694 chromosome
 IEA cellular_component
GO:0006275 regulation of DNA replica
tion
 IMP biological_process
GO:0006306 DNA methylation
 ISS biological_process
GO:0008168 methyltransferase activit
y
 IEA molecular_function
GO:0008270 zinc ion binding
 IEA molecular_function
GO:0009267 cellular response to star
vation
 IDA biological_process
GO:0016279 protein-lysine N-methyltr
ansferase activity
 IDA molecular_function
GO:0016571 histone methylation
 IMP biological_process
GO:0016740 transferase activity
 IEA molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 IEA molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 IEA molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 IDA molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 IMP molecular_function
GO:0018027 peptidyl-lysine dimethyla
tion
 IDA biological_process
GO:0032259 methylation
 IEA biological_process
GO:0034968 histone lysine methylatio
n
 IEA biological_process
GO:0034968 histone lysine methylatio
n
 IDA biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 ISS molecular_function
GO:0046976 histone methyltransferase
activity (H3-K27 specifi
c)
 ISS molecular_function
GO:0051567 histone H3-K9 methylation
 IEA biological_process
GO:0070734 histone H3-K27 methylatio
n
 IEA biological_process
GO:0070742 C2H2 zinc finger domain b
inding
 IPI molecular_function
GO:1901796 regulation of signal tran
sduction by p53 class med
iator
 TAS biological_process
GO:1990841 promoter-specific chromat
in binding
 IDA molecular_function
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0000790 nuclear chromatin
 IDA cellular_component
GO:0002039 p53 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
 ISS cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005654 nucleoplasm
 IDA 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:0006275 regulation of DNA replica
tion
 IMP biological_process
GO:0006306 DNA methylation
 ISS biological_process
GO:0009267 cellular response to star
vation
 IDA biological_process
GO:0016279 protein-lysine N-methyltr
ansferase activity
 IDA molecular_function
GO:0016571 histone methylation
 IMP biological_process
GO:0018024 histone-lysine N-methyltr
ansferase activity
 IDA molecular_function
GO:0018024 histone-lysine N-methyltr
ansferase activity
 IMP molecular_function
GO:0018027 peptidyl-lysine dimethyla
tion
 IDA biological_process
GO:0034968 histone lysine methylatio
n
 IDA biological_process
GO:0046974 histone methyltransferase
activity (H3-K9 specific
)
 ISS molecular_function
GO:0046976 histone methyltransferase
activity (H3-K27 specifi
c)
 ISS molecular_function
GO:0070742 C2H2 zinc finger domain b
inding
 IPI molecular_function
GO:1901796 regulation of signal tran
sduction by p53 class med
iator
 TAS biological_process
GO:1990841 promoter-specific chromat
in binding
 IDA molecular_function

KEGG pathways

hsa04211  Longevity regulating pathway
hsa00310  Lysine degradation

Diseases

Associated diseases References
Cancer PMID: 16501248
Endometriosis PMID: 23080547
Multiple sclerosis PMID: 17660530
Endometriosis INFBASE23080547
Systemic lupus erythematosus PMID: 18204098

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23080547 Endometrio
sis
15 patients wit
h endometriosis
 SIRT1
HDAC1
SUV39H1
SUV39H2
HDAC2
G9a
 Show abstract