EHMT2 (euchromatic histone lysine methyltransferase 2)

Gene

• Entrez ID: 10919
• Gene name: Euchromatic histone lysine methyltransferase 2
• Gene symbol: EHMT2
• Synonyms: BAT8, C6orf30, G9A, GAT8, KMT1C, NG36
• 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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19144645
GO:0000785	Component	Chromatin	IDA	19144645
GO:0001226	Function	RNA polymerase II transcription corepressor binding	IPI	29628311
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
GO:0005634	Component	Nucleus	IDA	19144645
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006275	Process	Regulation of DNA replication	IMP	22387026
GO:0006306	Process	DNA methylation	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0009267	Process	Cellular response to starvation	IDA	23918802
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	20118233
GO:0016571	Process	Histone methylation	IMP	22387026
GO:0016607	Component	Nuclear speck	IDA
GO:0018024	Function	Histone-lysine N-methyltransferase activity	IDA	19144645
GO:0018024	Function	Histone-lysine N-methyltransferase activity	IMP	22387026
GO:0018027	Process	Peptidyl-lysine dimethylation	IDA	20118233
GO:0034968	Process	Histone lysine methylation	IDA	19144645
GO:0046974	Function	Histone methyltransferase activity (H3-K9 specific)	ISS
GO:0046976	Function	Histone methyltransferase activity (H3-K27 specific)	ISS
GO:0051567	Process	Histone H3-K9 methylation	IEA
GO:0070317	Process	Negative regulation of G0 to G1 transition	TAS
GO:0070734	Process	Histone H3-K27 methylation	IEA
GO:0070742	Function	C2H2 zinc finger domain binding	IPI	16702210
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1990841	Function	Promoter-specific chromatin binding	IDA	23918802

Other IDs

• MIM: 604599
• HGNC: 14129
• e!Ensembl: ENSG00000204371

Protein

• UniProt ID: 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

• 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

Pathways

KEGG:

Lysine degradation
Metabolic pathways
Longevity regulating pathway

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	17632545, 29358691
Leukemia	Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	24532712
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	20940408
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	20598377, 17660530
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	17804836, 19503088, 21156761
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	28540026

Unknown
Disease name	Disease term	dbSNP ID	References
Development disorder	Child Development Disorders, Pervasive		28540026
Lung neoplasms	Lung Neoplasms		20940408
Lupus erythematosus	Lupus Erythematosus, Systemic		24871463
Membranous glomerulonephritis	Membranous glomerulonephritis		21323541
Myeloid leukemia	Acute Myeloid Leukemia, M1		24532712
Oral ulcer	Oral Ulcer		30837455
Ovarian epithelial carcinoma	Carcinoma, Ovarian Epithelial		25115793
Subfertility	Subfertility		25975992
Takayasu arteritis	Takayasu Arteritis		25604533
Vesicular stomatitis	Vesicular Stomatitis		26418342