Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10919
Gene name	Euchromatic histone lysine methyltransferase 2
Gene symbol	EHMT2
Synonyms (NCBI Gene)	BAT8C6orf30G9AGAT8KMT1CNG36
Chromosome	6
Chromosome location	6p21.33
Summary	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

Show/Hide all (65)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001368	hsa-miR-1-3p	pSILAC	18668040
MIRT001368	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT001368	hsa-miR-1-3p	Proteomics	18668040
MIRT051011	hsa-miR-17-5p	CLASH	23622248
MIRT046189	hsa-miR-27b-3p	CLASH	23622248
MIRT040361	hsa-miR-615-3p	CLASH	23622248
MIRT036236	hsa-miR-320b	CLASH	23622248
MIRT955659	hsa-miR-2861	CLIP-seq
MIRT955660	hsa-miR-3064-5p	CLIP-seq
MIRT955661	hsa-miR-326	CLIP-seq
MIRT955662	hsa-miR-330-5p	CLIP-seq
MIRT955663	hsa-miR-3652	CLIP-seq
MIRT955664	hsa-miR-3663-5p	CLIP-seq
MIRT955665	hsa-miR-4430	CLIP-seq
MIRT955666	hsa-miR-4505	CLIP-seq
MIRT955667	hsa-miR-450b-3p	CLIP-seq
MIRT955668	hsa-miR-4713-3p	CLIP-seq
MIRT955669	hsa-miR-638	CLIP-seq
MIRT955670	hsa-miR-769-3p	CLIP-seq
MIRT955671	hsa-miR-873	CLIP-seq
MIRT955672	hsa-miR-1	CLIP-seq
MIRT955673	hsa-miR-1293	CLIP-seq
MIRT955674	hsa-miR-206	CLIP-seq
MIRT955659	hsa-miR-2861	CLIP-seq
MIRT955660	hsa-miR-3064-5p	CLIP-seq
MIRT955675	hsa-miR-3150a-3p	CLIP-seq
MIRT955676	hsa-miR-3175	CLIP-seq
MIRT955661	hsa-miR-326	CLIP-seq
MIRT955662	hsa-miR-330-5p	CLIP-seq
MIRT955663	hsa-miR-3652	CLIP-seq
MIRT955664	hsa-miR-3663-5p	CLIP-seq
MIRT955677	hsa-miR-3918	CLIP-seq
MIRT955665	hsa-miR-4430	CLIP-seq
MIRT955678	hsa-miR-4483	CLIP-seq
MIRT955666	hsa-miR-4505	CLIP-seq
MIRT955667	hsa-miR-450b-3p	CLIP-seq
MIRT955679	hsa-miR-4512	CLIP-seq
MIRT955680	hsa-miR-4685-5p	CLIP-seq
MIRT955668	hsa-miR-4713-3p	CLIP-seq
MIRT955681	hsa-miR-488	CLIP-seq
MIRT955682	hsa-miR-491-5p	CLIP-seq
MIRT955683	hsa-miR-541	CLIP-seq
MIRT955684	hsa-miR-613	CLIP-seq
MIRT955669	hsa-miR-638	CLIP-seq
MIRT955685	hsa-miR-654-5p	CLIP-seq
MIRT955670	hsa-miR-769-3p	CLIP-seq
MIRT955671	hsa-miR-873	CLIP-seq
MIRT955686	hsa-miR-939	CLIP-seq
MIRT1983089	hsa-miR-185	CLIP-seq
MIRT955675	hsa-miR-3150a-3p	CLIP-seq
MIRT955676	hsa-miR-3175	CLIP-seq
MIRT1983090	hsa-miR-4306	CLIP-seq
MIRT1983091	hsa-miR-4644	CLIP-seq
MIRT1983092	hsa-miR-4667-5p	CLIP-seq
MIRT1983093	hsa-miR-4700-5p	CLIP-seq
MIRT1983094	hsa-miR-4731-5p	CLIP-seq
MIRT955686	hsa-miR-939	CLIP-seq
MIRT2218268	hsa-miR-1185	CLIP-seq
MIRT2218269	hsa-miR-2392	CLIP-seq
MIRT2218270	hsa-miR-3605-5p	CLIP-seq
MIRT2218271	hsa-miR-3679-5p	CLIP-seq
MIRT955661	hsa-miR-326	CLIP-seq
MIRT955662	hsa-miR-330-5p	CLIP-seq
MIRT955661	hsa-miR-326	CLIP-seq
MIRT955662	hsa-miR-330-5p	CLIP-seq

Show/Hide all (61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19144645
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	19144645
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0001222	Function	Transcription corepressor binding	IEA
GO:0001222	Function	Transcription corepressor binding	IPI	29628311
GO:0002039	Function	P53 binding	IEA
GO:0002039	Function	P53 binding	IPI	20118233
GO:0005515	Function	Protein binding	IPI	16189514, 16287849, 16702210, 17636019, 18451879, 18953337, 19061646, 21549307, 23752268, 24492005, 25910212, 26028330, 26751641, 26871637, 27339988, 27705803, 29774127, 32296183, 33961781, 35140242
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19144645
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006275	Process	Regulation of DNA replication	IEA
GO:0006275	Process	Regulation of DNA replication	IMP	22387026
GO:0006325	Process	Chromatin organization	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009267	Process	Cellular response to starvation	IDA	23918802
GO:0009566	Process	Fertilization	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	19144645, 20118233
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016604	Component	Nuclear body	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0018027	Process	Peptidyl-lysine dimethylation	IDA	20118233
GO:0032259	Process	Methylation	IEA
GO:0035265	Process	Organ growth	IEA
GO:0036166	Process	Phenotypic switching	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IBA
GO:0042054	Function	Histone methyltransferase activity	IEA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	IBA
GO:0046974	Function	Histone H3K9 methyltransferase activity	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	ISS
GO:0046976	Function	Histone H3K27 methyltransferase activity	IEA
GO:0046976	Function	Histone H3K27 methyltransferase activity	ISS
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0048599	Process	Oocyte development	IEA
GO:0048665	Process	Neuron fate specification	IEA
GO:0070742	Function	C2H2 zinc finger domain binding	IEA
GO:0070742	Function	C2H2 zinc finger domain binding	IPI	16702210
GO:0071314	Process	Cellular response to cocaine	IEA
GO:0140759	Function	Histone H3K56 methyltransferase activity	IEA
GO:0140759	Function	Histone H3K56 methyltransferase activity	IMP	22387026
GO:0140938	Function	Histone H3 methyltransferase activity	IEA
GO:0140947	Function	Histone H3K9me2 methyltransferase activity	IEA
GO:1902902	Process	Negative regulation of autophagosome assembly	IEA
GO:1990841	Function	Promoter-specific chromatin binding	IDA	23918802
GO:1990841	Function	Promoter-specific chromatin binding	IEA

MIM	HGNC	e!Ensembl
604599	14129	ENSG00000204371

Q96KQ7

Protein name

Histone-lysine N-methyltransferase EHMT2 (EC 2.1.1.-) (EC 2.1.1.367) (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)

Protein function

Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to

PDB

2O8J , 3DM1 , 3K5K , 3RJW , 4NVQ , 5JHN , 5JIN , 5JIY , 5JJ0 , 5T0K , 5T0M , 5TTF , 5TUY , 5V9I , 5VSC , 5VSE , 6MM1 , 7BTV , 7BUC , 7DCF , 7T7L , 7X73 , 7XUA , 7XUB , 7XUC , 7XUD , 8VV8 , 8Z7C , 8Z7D , 8Z7E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00023	Ank	685 → 716	Ankyrin repeat	Repeat
PF00023	Ank	750 → 783	Ankyrin repeat	Repeat
PF00023	Ank	784 → 816	Ankyrin repeat	Repeat
PF00023	Ank	850 → 882	Ankyrin repeat	Repeat
PF05033	Pre-SET	926 → 1030	Pre-SET motif	Family
PF00856	SET	1049 → 1155	SET domain	Family

Tissue specificity

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:0000269|PubMed:11707778}.

Sequence

MAAAAGAAAAAAAEGEAPAEMGALLLEKETRGATERVHGSLGDTPRSEETLPKATPDSLE
PAGPSSPASVTVTVGDEGADTPVGATPLIGDESENLEGDGDLRGGRILLGHATKSFPSSP
SKGGSCPSRAKMSMTGAGKSPPSVQSLAMRLLSMPGAQGAAAAGSEPPPATTSPEGQPKV
HRARKTMSKPGNGQPPVPEKRPPEIQHFRMSDDVHSLGKVTSDLAKRRKLNSGGGLSEEL
GSARRSGEVTLTKGDPGSLEEWETVVGDDFSLYYDSYSVDERVDSDSKSEVEALTEQLSE
EEEEEEEEEEEEEEEEEEEEEEEDEESGNQSDRSGSSGRRKAKKKWRKDSPWVKPSRKRR
KREPPRAKEPRGVNGVGSSGPSEYMEVPLGSLELPSEGTLSPNHAGVSNDTSSLETERGF
EELPLCSCRMEAPKIDRISERAGHKCMATESVDGELSGCNAAILKRETMRPSSRVALMVL
CETHRARMVKHHCCPGCGYFCTAGTFLECHPDFRVAHRFHKACVSQLNGMVFCPHCGEDA
SEAQEVTIPRGDGVTPPAGTAAPAPPPLSQDVPGRADTSQPSARMRGHGEPRRPPCDPLA
DTIDSSGPSLTLPNGGCLSAVGLPLGPGREALEKALVIQESERRKKLRFHPRQLYLSVKQ
GELQKVILMLLDNLDPNFQSDQQSKRTPLHAAAQKGSVEICHVLLQAGANINAVDKQQRT
PLMEAVVNNHLEVARYMVQRGGCVYSKEEDGSTCLHHAAKIGNLEMVSLLLSTGQVDVNA
QDSGGWTPIIWAAEHKHIEVIRMLLTRGADVTLTDNEENICLHWASFTGSAAIAEVLLNA
RCDLHAVNYHGDTPLHIAARESYHDCVLLFLSRGANPELRNKEGDTAWDLTPERSDVWFA
LQLNRKLRLGVGNRAIRTEKIICRDVARGYENVPIPCVNGVDGEPCPEDYKYISENCETS
TMNIDRNITHLQHCTCVDDCSSSNCLCGQLSIRCWYDKDGRLLQEFNKIEPPLIFECNQA
CSCWRNCKNRVVQSGIKVRLQLYRTAKMGWGVRALQTIPQGTFICEYVGELISDAEADVR
EDDSYLFDLDNKDGEVYCIDARYYGNISRFINHLCDPNIIPVRVFMLHQDLRFPRIAFFS
SRDIRTGEELGFDYGDRFWDIKSKYFTCQCGSEKCKHSAEAIALEQSRLARLDPHPELLP
ELGSLPPVNT

Sequence length

1210

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways Longevity regulating pathway		Senescence-Associated Secretory Phenotype (SASP) PKMTs methylate histone lysines Regulation of TP53 Activity through Methylation RNA Polymerase I Transcription Initiation Transcriptional Regulation by VENTX Transcriptional Regulation by E2F6

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Kleefstra-like syndrome	Pathogenic	rs2481623573	RCV003484975

Show/Hide Text Mining Associations (79)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agranulocytosis	Associate	27157822
Aortic Dissection	Associate	32174799
Attention Deficit and Disruptive Behavior Disorders	Associate	18446223
Attention Deficit Disorder with Hyperactivity	Inhibit	30747104
Autistic Disorder	Associate	30747104
Bone Neoplasms	Associate	27185940
Breast Neoplasms	Associate	26960573, 29145444, 30365075, 35054776, 37614064
Breast Neoplasms	Stimulate	28819251
Carcinogenesis	Associate	21847359, 32269030
Carcinogenesis	Stimulate	35054776
Carcinoma Hepatocellular	Associate	26765460, 32684241, 34692847, 36896891
Carcinoma Non Small Cell Lung	Associate	29374157, 32028644, 38306271
Cardiovascular Diseases	Associate	32174799
Cholangiocarcinoma	Associate	34880125
Cholangiocarcinoma	Inhibit	34880125
Chronic Disease	Associate	37858336
Colorectal Neoplasms	Associate	30535125, 32512705, 33323965, 34972816
Corneal Endothelial Cell Loss	Associate	30762931
Coronary Artery Disease	Associate	30015926
Diabetes Mellitus Type 2	Associate	29358691
Esophageal Neoplasms	Associate	39465737
Glioblastoma	Associate	29860315
Glioma	Associate	27748874, 28445939
Glioma of Brain Familial	Associate	27748874
Hepatoblastoma	Associate	38285887
Hereditary Breast and Ovarian Cancer Syndrome	Associate	37614064
Hyperthyroidism	Associate	27157822
Hypoxia	Associate	29145444
Hypoxia	Inhibit	29860315
Idiopathic Interstitial Pneumonias	Associate	27266705
Idiopathic Pulmonary Fibrosis	Associate	24652950, 29053336
Inflammation	Associate	37858336
Leukemia	Associate	22801367, 25765655, 32293500
Leukemia Lymphocytic Chronic B Cell	Associate	33606672
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	25079219
Leukemia Myeloid Acute	Associate	23142581, 25978433, 28301528, 32293500
Leukemia Promyelocytic Acute	Associate	11682484, 19376791
Leukemia T Cell	Associate	28387360
Liver Neoplasms	Associate	36896891
Lung Neoplasms	Associate	28615290, 28787001, 31271097, 35477569
Lymphatic Metastasis	Associate	25749385
Lymphatic Metastasis	Stimulate	31770281
Lymphoma	Associate	33530253
Lymphoma Mantle Cell	Associate	34633777
Lymphopenia	Associate	37858336
Melanoma	Associate	24850177, 32269030, 32512705
Monosomy	Inhibit	25593028
Mucocutaneous Lymph Node Syndrome	Associate	18446223
Muscle Neoplasms	Inhibit	32174799
Neoplasm Metastasis	Associate	23807219, 25749385, 26169368, 31271097, 32028644, 34108444
Neoplasm Metastasis	Stimulate	35054776
Neoplasms	Associate	18446223, 21847359, 22536950, 25593028, 25749385, 26765460, 27174920, 27185940, 27431310, 28677817, 28787001, 28819251, 29145444, 31434093, 32174799 View all (8 more)
Neoplasms	Stimulate	20118233, 24966962, 32028644, 37894922
Neoplasms	Inhibit	25978433
Neuroblastoma	Associate	23466651, 34016720
Neuroblastoma	Stimulate	32028644, 37894922
Oncogene Addiction	Stimulate	20118233
Osteosarcoma	Associate	27685841
Ovarian Neoplasms	Associate	30185548
Ovarian Neoplasms	Stimulate	32028644
Pancreatic Neoplasms	Associate	22536950, 23807219, 26688070
Parkinson Disease	Associate	33973677
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	30305606
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	30305606, 35710782
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	35710782
Prostatic Neoplasms	Associate	31599405, 37663929
Prostatic Neoplasms Castration Resistant	Stimulate	35483199
Rhabdomyosarcoma	Associate	36044855
Rhabdomyosarcoma Alveolar	Associate	36044855
Sarcoma Ewing	Stimulate	37894922
Squamous Cell Carcinoma of Head and Neck	Associate	25749385
Status Asthmaticus	Associate	22689881
Stomach Neoplasms	Associate	30158521, 31770281
Systemic Inflammatory Response Syndrome	Associate	37858336
T cell immunodeficiency primary	Associate	37858336
Urinary Bladder Neoplasms	Stimulate	21847359
Uterine Cervical Neoplasms	Associate	31434093
Uveal melanoma	Associate	25593028
Ventricular Remodeling	Associate	32174799

EHMT2 (euchromatic histone lysine methyltransferase 2)