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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79813
Gene name	Euchromatic histone lysine methyltransferase 1
Gene symbol	EHMT1
Synonyms (NCBI Gene)	EHMT1-IT1EUHMTASE1Eu-HMTase1FP13812GLPGLP1KLEFS1KMT1D
Chromosome	9
Chromosome location	9q34.3
Summary	The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved

Show/Hide all (95)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35285441	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs121918301	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs137852714	C>A,T	Pathogenic	Synonymous variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs137852715	GGCACCAGGAGAC>-	Pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant
rs137852716	AGAC>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs137852717	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, stop gained
rs137852718	C>A,T	Pathogenic, benign, likely-benign	Genic downstream transcript variant, synonymous variant, genic upstream transcript variant, stop gained, coding sequence variant
rs137852720	G>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant
rs137852721	GT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs137852722	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs137852724	G>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs137852725	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs137852726	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs138824805	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs139206060	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs144085805	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs144949902	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs146125583	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Genic upstream transcript variant, intron variant
rs182595609	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs202097707	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs368087892	C>G,T	Likely-benign, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant, genic downstream transcript variant
rs377070695	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs398124404	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant
rs398124407	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs587780332	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs749848324	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant, genic downstream transcript variant
rs752178081	C>G,T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs772286870	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs773020101	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs777106945	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs780742937	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs781254508	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs786205129	TTCT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205601	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs794727979	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs797045043	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs869312936	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs879255531	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs886037776	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs886039703	G>A	Pathogenic	Intron variant, genic downstream transcript variant
rs886041093	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs886041450	C>AAG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886041797	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs886041844	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, genic downstream transcript variant
rs886042018	C>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic downstream transcript variant
rs886042048	ATGGA>TGGG	Pathogenic	Coding sequence variant, initiator codon variant, frameshift variant, genic downstream transcript variant
rs886042181	AGAA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs886063743	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs1057518849	G>A,C	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1057518913	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, splice donor variant, genic upstream transcript variant, missense variant
rs1057524142	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1064793748	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1064796085	AG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1064796996	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1085307734	CT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1085307748	C>G,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs1085307843	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1131691715	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1325669112	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, stop gained
rs1429360126	C>A,T	Pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1554846052	AGCGATGCCA>CCATT	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554846766	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1554852597	A>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554852648	G>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1554852664	C>-,CC	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554859292	->C	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554867189	GT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1554871138	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1554871182	->A	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554879411	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1554879633	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1554880275	->CCCAAAGCAGCTGTACT	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1554888910	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554888939	G>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1554895172	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554896104	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554896575	TC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554896943	TGGAAGACGTAGTTGTGACTGGGAGGGGAAATGGAAGGCCTGTGCCTGCACGTCTGACCCCCCGGCGCCTCTCTTCTCAGTACTGCGTGTGCATCGACGACTGCTCCTCCAGCAACTGCATGTGCGGCCAGCT>-	Pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1554897110	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, splice donor variant
rs1554897763	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554897852	CGCGTG>TT	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554908290	GTCAGCCGGTTC>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs1554908367	->CCGTGC	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe insertion
rs1554908411	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1564704133	G>T	Pathogenic	Stop gained, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1564744631	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1588481921	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1588533423	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1588533561	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1588553447	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs1588642071	->TGATGCGCCCCTCCAACAAGGCCCC	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant
rs1588770875	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1588784791	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1588854011	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1588875719	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

120

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001369	hsa-miR-1-3p	pSILAC	18668040
MIRT001369	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT046028	hsa-miR-125b-5p	CLASH	23622248
MIRT044136	hsa-miR-30e-5p	CLASH	23622248
MIRT042121	hsa-miR-484	CLASH	23622248
MIRT040045	hsa-miR-615-3p	CLASH	23622248
MIRT955623	hsa-miR-1231	CLIP-seq
MIRT955624	hsa-miR-1238	CLIP-seq
MIRT955625	hsa-miR-1285	CLIP-seq
MIRT955626	hsa-miR-2052	CLIP-seq
MIRT955627	hsa-miR-2113	CLIP-seq
MIRT955628	hsa-miR-2117	CLIP-seq
MIRT955629	hsa-miR-223	CLIP-seq
MIRT955630	hsa-miR-296-5p	CLIP-seq
MIRT955631	hsa-miR-3065-3p	CLIP-seq
MIRT955632	hsa-miR-3074-5p	CLIP-seq
MIRT955633	hsa-miR-3117-3p	CLIP-seq
MIRT955634	hsa-miR-3130-3p	CLIP-seq
MIRT955635	hsa-miR-3169	CLIP-seq
MIRT955636	hsa-miR-3187-5p	CLIP-seq
MIRT955637	hsa-miR-34b	CLIP-seq
MIRT955638	hsa-miR-375	CLIP-seq
MIRT955639	hsa-miR-4273	CLIP-seq
MIRT955640	hsa-miR-4288	CLIP-seq
MIRT955641	hsa-miR-4464	CLIP-seq
MIRT955642	hsa-miR-4668-3p	CLIP-seq
MIRT955643	hsa-miR-4677-5p	CLIP-seq
MIRT955644	hsa-miR-4710	CLIP-seq
MIRT955645	hsa-miR-4748	CLIP-seq
MIRT955646	hsa-miR-4759	CLIP-seq
MIRT955647	hsa-miR-4792	CLIP-seq
MIRT955648	hsa-miR-4799-5p	CLIP-seq
MIRT955649	hsa-miR-561	CLIP-seq
MIRT955650	hsa-miR-595	CLIP-seq
MIRT955651	hsa-miR-612	CLIP-seq
MIRT955652	hsa-miR-632	CLIP-seq
MIRT955653	hsa-miR-648	CLIP-seq
MIRT955654	hsa-miR-661	CLIP-seq
MIRT955655	hsa-miR-766	CLIP-seq
MIRT955656	hsa-miR-877	CLIP-seq
MIRT955657	hsa-miR-933	CLIP-seq
MIRT955658	hsa-miR-935	CLIP-seq
MIRT1983065	hsa-miR-103b	CLIP-seq
MIRT955627	hsa-miR-2113	CLIP-seq
MIRT1983066	hsa-miR-2355-3p	CLIP-seq
MIRT1983067	hsa-miR-3192	CLIP-seq
MIRT1983068	hsa-miR-3529	CLIP-seq
MIRT1983069	hsa-miR-3612	CLIP-seq
MIRT1983070	hsa-miR-3652	CLIP-seq
MIRT1983071	hsa-miR-3689a-3p	CLIP-seq
MIRT1983072	hsa-miR-3689c	CLIP-seq
MIRT1983073	hsa-miR-379	CLIP-seq
MIRT1983074	hsa-miR-409-3p	CLIP-seq
MIRT1983075	hsa-miR-4328	CLIP-seq
MIRT1983076	hsa-miR-4430	CLIP-seq
MIRT1983077	hsa-miR-4451	CLIP-seq
MIRT1983078	hsa-miR-4474-3p	CLIP-seq
MIRT1983079	hsa-miR-4505	CLIP-seq
MIRT1983080	hsa-miR-4646-3p	CLIP-seq
MIRT1983081	hsa-miR-4650-3p	CLIP-seq
MIRT1983082	hsa-miR-4728-5p	CLIP-seq
MIRT1983083	hsa-miR-4768-3p	CLIP-seq
MIRT1983084	hsa-miR-599	CLIP-seq
MIRT1983085	hsa-miR-650	CLIP-seq
MIRT1983086	hsa-miR-664	CLIP-seq
MIRT1983087	hsa-miR-676	CLIP-seq
MIRT1983088	hsa-miR-891a	CLIP-seq
MIRT1983065	hsa-miR-103b	CLIP-seq
MIRT2218241	hsa-miR-1202	CLIP-seq
MIRT955625	hsa-miR-1285	CLIP-seq
MIRT2218242	hsa-miR-18a	CLIP-seq
MIRT2218243	hsa-miR-18b	CLIP-seq
MIRT2218244	hsa-miR-1908	CLIP-seq
MIRT2218245	hsa-miR-191	CLIP-seq
MIRT2218246	hsa-miR-1972	CLIP-seq
MIRT955628	hsa-miR-2117	CLIP-seq
MIRT955629	hsa-miR-223	CLIP-seq
MIRT1983066	hsa-miR-2355-3p	CLIP-seq
MIRT2218247	hsa-miR-28-3p	CLIP-seq
MIRT955630	hsa-miR-296-5p	CLIP-seq
MIRT955633	hsa-miR-3117-3p	CLIP-seq
MIRT955634	hsa-miR-3130-3p	CLIP-seq
MIRT955635	hsa-miR-3169	CLIP-seq
MIRT955636	hsa-miR-3187-5p	CLIP-seq
MIRT2218248	hsa-miR-3194-5p	CLIP-seq
MIRT2218249	hsa-miR-3661	CLIP-seq
MIRT955638	hsa-miR-375	CLIP-seq
MIRT2218250	hsa-miR-3972	CLIP-seq
MIRT1983074	hsa-miR-409-3p	CLIP-seq
MIRT2218251	hsa-miR-421	CLIP-seq
MIRT955639	hsa-miR-4273	CLIP-seq
MIRT2218252	hsa-miR-4310	CLIP-seq
MIRT955641	hsa-miR-4464	CLIP-seq
MIRT2218253	hsa-miR-4470	CLIP-seq
MIRT1983078	hsa-miR-4474-3p	CLIP-seq
MIRT1983080	hsa-miR-4646-3p	CLIP-seq
MIRT955643	hsa-miR-4677-5p	CLIP-seq
MIRT2218254	hsa-miR-4709-5p	CLIP-seq
MIRT955644	hsa-miR-4710	CLIP-seq
MIRT2218255	hsa-miR-4711-5p	CLIP-seq
MIRT2218256	hsa-miR-4717-5p	CLIP-seq
MIRT2218257	hsa-miR-4722-3p	CLIP-seq
MIRT2218258	hsa-miR-4735-3p	CLIP-seq
MIRT955645	hsa-miR-4748	CLIP-seq
MIRT2218259	hsa-miR-4753-3p	CLIP-seq
MIRT2218260	hsa-miR-4755-3p	CLIP-seq
MIRT955646	hsa-miR-4759	CLIP-seq
MIRT2218261	hsa-miR-4789-5p	CLIP-seq
MIRT955647	hsa-miR-4792	CLIP-seq
MIRT2218262	hsa-miR-548c-3p	CLIP-seq
MIRT2218263	hsa-miR-548u	CLIP-seq
MIRT2218264	hsa-miR-582-5p	CLIP-seq
MIRT955651	hsa-miR-612	CLIP-seq
MIRT2218265	hsa-miR-631	CLIP-seq
MIRT955654	hsa-miR-661	CLIP-seq
MIRT2218266	hsa-miR-663	CLIP-seq
MIRT1983087	hsa-miR-676	CLIP-seq
MIRT955656	hsa-miR-877	CLIP-seq
MIRT955658	hsa-miR-935	CLIP-seq
MIRT2218267	hsa-miR-95	CLIP-seq

Show/Hide all (51)

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	IEA
GO:0000785	Component	Chromatin	IBA
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	16702210, 19061646, 20871592, 21131967, 26496610
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	12004135
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:0006325	Process	Chromatin organization	IDA	12004135
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:0008168	Function	Methyltransferase activity	IDA	12004135
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	20118233
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016604	Component	Nuclear body	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018026	Process	Peptidyl-lysine monomethylation	ISS
GO:0018027	Process	Peptidyl-lysine dimethylation	IDA	20118233
GO:0032259	Process	Methylation	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IBA
GO:0042054	Function	Histone methyltransferase activity	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0045995	Process	Regulation of embryonic development	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	IBA
GO:0046974	Function	Histone H3K9 methyltransferase activity	IDA	12004135
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:0060992	Process	Response to fungicide	IEA
GO:0070742	Function	C2H2 zinc finger domain binding	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	24196706
GO:0140718	Process	Facultative heterochromatin formation	IEA
GO:0140938	Function	Histone H3 methyltransferase activity	IEA
GO:0140947	Function	Histone H3K9me2 methyltransferase activity	IEA

MIM	HGNC	e!Ensembl
607001	24650	ENSG00000181090

Q9H9B1

Protein name

Histone-lysine N-methyltransferase EHMT1 (EC 2.1.1.-) (EC 2.1.1.367) (Euchromatic histone-lysine N-methyltransferase 1) (Eu-HMTase1) (G9a-like protein 1) (GLP) (GLP1) (Histone H3-K9 methyltransferase 5) (H3-K9-HMTase 5) (Lysine N-methyltransferase 1D)

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

2IGQ , 2RFI , 3B7B , 3B95 , 3FPD , 3HNA , 3MO0 , 3MO2 , 3MO5 , 3SW9 , 3SWC , 4I51 , 5TTG , 5TUZ , 5V9J , 5VSD , 5VSF , 6BY9 , 6MBO , 6MBP , 7T7M , 8XPT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	742 → 836	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	830 → 903	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	910 → 996	Ankyrin repeats (3 copies)	Repeat
PF05033	Pre-SET	1014 → 1118	Pre-SET motif	Family
PF00856	SET	1137 → 1243	SET domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11347906}.

Sequence

MAAADAEAVPARGEPQQDCCVKTELLGEETPMAADEGSAEKQAGEAHMAADGETNGSCEN
SDASSHANAAKHTQDSARVNPQDGTNTLTRIAENGVSERDSEAAKQNHVTADDFVQTSVI
GSNGYILNKPALQAQPLRTTSTLASSLPGHAAKTLPGGAGKGRTPSAFPQTPAAPPATLG
EGSADTEDRKLPAPGADVKVHRARKTMPKSVVGLHAASKDPREVREARDHKEPKEEINKN
ISDFGRQQLLPPFPSLHQSLPQNQCYMATTKSQTACLPFVLAAAVSRKKKRRMGTYSLVP
KKKTKVLKQRTVIEMFKSITHSTVGSKGEKDLGASSLHVNGESLEMDSDEDDSEELEEDD
GHGAEQAAAFPTEDSRTSKESMSEADRAQKMDGESEEEQESVDTGEEEEGGDESDLSSES
SIKKKFLKRKGKTDSPWIKPARKRRRRSRKKPSGALGSESYKSSAGSAEQTAPGDSTGYM
EVSLDSLDLRVKGILSSQAEGLANGPDVLETDGLQEVPLCSCRMETPKSREITTLANNQC
MATESVDHELGRCTNSVVKYELMRPSNKAPLLVLCEDHRGRMVKHQCCPGCGYFCTAGNF
MECQPESSISHRFHKDCASRVNNASYCPHCGEESSKAKEVTIAKADTTSTVTPVPGQEKG
SALEGRADTTTGSAAGPPLSEDDKLQGAASHVPEGFDPTGPAGLGRPTPGLSQGPGKETL
ESALIALDSEKPKKLRFHPKQLYFSARQGELQKVLLMLVDGIDPNFKMEHQNKRSPLHAA
AEAGHVDICHMLVQAGANIDTCSEDQRTPLMEAAENNHLEAVKYLIKAGALVDPKDAEGS
TCLHLAAKKGHYEVVQYLLSNGQMDVNCQDDGGWTPMIWATEYKHVDLVKLLLSKGSDIN
IRDNEENICLHWAAFSGCVDIAEILLAAKCDLHAVNIHGDSPLHIAARENRYDCVVLFLS
RDSDVTLKNKEGETPLQCASLNSQVWSALQMSKALQDSAPDRPSPVERIVSRDIARGYER
IPIPCVNAVDSEPCPSNYKYVSQNCVTSPMNIDRNITHLQYCVCIDDCSSSNCMCGQLSM
RCWYDKDGRLLPEFNMAEPPLIFECNHACSCWRNCRNRVVQNGLRARLQLYRTRDMGWGV
RSLQDIPPGTFVCEYVGELISDSEADVREEDSYLFDLDNKDGEVYCIDARFYGNVSRFIN
HHCEPNLVPVRVFMAHQDLRFPRIAFFSTRLIEAGEQLGFDYGERFWDIKGKLFSCRCGS
PKCRHSSAALAQRQASAAQEAQEDGLPDTSSAAAADPL

Sequence length

1298

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 Transcriptional Regulation by VENTX Transcriptional Regulation by E2F6

1985

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Pathogenic	rs1057518849	RCV000415193
Autism spectrum disorder	Pathogenic	rs886037776	RCV000241547
Difficulty walking	Pathogenic	rs1057518849	RCV000415193
EHMT1-related disorder	Likely pathogenic; Pathogenic	rs1233778317, rs2538413303	RCV003391375 RCV003406090
Global developmental delay	Pathogenic	rs1057518849	RCV000415193
Intellectual disability	Pathogenic	rs786205129, rs1945375812, rs1949924324, rs1953425077, rs1955015534	RCV005625260 RCV001260702 RCV001260701 RCV001260703 RCV001260704
Kleefstra syndrome	Likely pathogenic; Pathogenic	rs2133154359, rs2541617396	RCV002223147 RCV004017975
Kleefstra syndrome 1	Pathogenic; Likely pathogenic	rs1954627505, rs2136355927, rs2135388757, rs2136712996, rs2137672729, rs2137711618, rs2137714332, rs2135511963, rs2136274853, rs2136894487, rs2132792568, rs587780332, rs2135501951, rs2133152290, rs2132809199 View all (101 more)	RCV001333222 RCV001353178 RCV001379770 RCV001390475 RCV001388303 RCV004720313 RCV001706796 RCV001706855 RCV001706951 RCV001823438 RCV001900886 RCV002528212 RCV001940866 RCV001941593 RCV001891292 RCV002039841 RCV002245285 RCV002249929 RCV002249930 RCV002249931 RCV002280019 RCV002287267 RCV002288354 RCV002288390 RCV002289361 RCV002294581 RCV002465442 RCV002471975 RCV000003789 RCV000003790 RCV000003791 RCV000003792 RCV002651008 RCV002584406 RCV002627033 RCV002662530 RCV000191083 RCV002820520 RCV002872122 RCV002871624 RCV002907931 RCV002904576 RCV003018269 RCV000241547 RCV003214124 RCV000239430 RCV003226110 RCV000258918 RCV001808728 RCV003233382 RCV003234810 RCV003444040 RCV003504093 RCV003503092 RCV003610181 RCV003610109 RCV003608724 RCV003984988 RCV003988666 RCV003990590 RCV004018035 RCV004018048 RCV004545965 RCV004557281 RCV000856744 RCV001007951 RCV001333219 RCV001764467 RCV000655937 RCV000502285 RCV000505190 RCV004720270 RCV002529047 RCV002530372 RCV003333084 RCV000034168 RCV004783824 RCV000625971 RCV001775139 RCV000679974 RCV000695795 RCV000686881 RCV000760267 RCV000760187 RCV000825011 RCV000825019 RCV004596365 RCV000856775 RCV000055956 RCV000055958 RCV000055959 RCV000055960 RCV000055961 RCV000055962 RCV000055963 RCV000055964 RCV000055965 RCV000055966 RCV000055967 RCV000988316 RCV000988317 RCV000988318 RCV001057592 RCV001195946 RCV001199026 RCV001209181 RCV001249617 RCV001249618 RCV001251096 RCV001254072 RCV001254911 RCV001258341 RCV001263214 RCV005419059 RCV001261280 RCV001264758 RCV005622095 RCV001280600 RCV001280838
Marfanoid habitus and intellectual disability	Likely pathogenic; Pathogenic	rs1588553447, rs1588784791	RCV000850475 RCV000850472
Polymicrogyria	Pathogenic	rs1057518849	RCV000415193

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Uncertain significance	rs12348672, rs866090137	RCV005919385 RCV005912164
Autism	Uncertain significance	rs2136274679	RCV001726714
Cervical cancer	Likely benign; Benign	rs116642604, rs12348672, rs561072157	RCV005916213 RCV005919386 RCV005920507
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	rs112664025, rs561072157	RCV005867881 RCV005920508
Clear cell carcinoma of kidney	Benign; Likely benign	rs150135875	RCV005888416
Colon adenocarcinoma	Benign	rs112664025, rs34385417	RCV005867873 RCV005869811
Colorectal cancer	Benign	rs112664025, rs34385417	RCV005867879 RCV005869812
Epilepsy	Conflicting classifications of pathogenicity	rs775347185	RCV005626302
Familial cancer of breast	Conflicting classifications of pathogenicity; Uncertain significance	rs200636818, rs866090137	RCV005895766 RCV005912163
Familial pancreatic carcinoma	Benign	rs112664025	RCV005867877
Gastric cancer	Benign	rs112664025	RCV005867880
Hepatocellular carcinoma	Benign; Likely benign	rs150135875	RCV005888414
Lung cancer	Uncertain significance	rs866090137	RCV005912165
Malignant lymphoma, large B-cell, diffuse	Benign	rs112664025	RCV005867878
Malignant tumor of esophagus	Benign; Likely benign	rs112664025, rs150135875	RCV005867874 RCV005888415
Malignant tumor of urinary bladder	Benign; Likely benign	rs150135875	RCV005888413
Melanoma	Benign; Likely benign	rs142199482	RCV005896741
Neurodevelopmental disorder	Uncertain significance; Conflicting classifications of pathogenicity	rs2132759440, rs1564618717, rs2133163719	RCV001375001 RCV003389076 RCV002277687
Nonpapillary renal cell carcinoma	Benign; Uncertain significance; Likely benign	rs112664025, rs369361505, rs142199482	RCV005867875 RCV005930572 RCV005896740
Ovarian cancer	Benign	rs112664025	RCV005867876
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs73576187, rs369361505	RCV005914727 RCV005930573
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs2133152969, rs1342402816	RCV002252595 RCV002252332
Thymoma	Benign	rs73576187	RCV005914729
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs781470751	RCV005913646
Uterine carcinosarcoma	Benign; Likely benign	rs73576187, rs150135875	RCV005914728 RCV005888417
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs12348672, rs34385417	RCV005919387 RCV005869206
Uveal melanoma	Benign; Likely benign	rs144323841	RCV005896742

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenocortical Carcinoma	Associate	36793283
Atherosclerosis	Associate	38144512
Autism Spectrum Disorder	Associate	22890305, 28057753, 28742076, 29317598, 29416845, 32722525
Autistic Disorder	Associate	27789404, 37257768
Carcinogenesis	Associate	34214254
Chromosome Aberrations	Associate	22521361
Chromosome Deletion	Associate	27966372
Colorectal Neoplasms	Associate	35748228
Developmental Disabilities	Associate	25307298, 26993267, 31209758, 36216811, 37257768
Diabetes Mellitus Type 2	Associate	25812118
Fetal Growth Retardation	Associate	38485322
Ganglioglioma	Associate	21681934
Genetic Diseases Inborn	Associate	28057753, 29416845, 36216811
Heart Diseases	Associate	38485322
Intellectual Disability	Associate	28057753, 29416845, 37257768
Kleefstra Syndrome	Associate	19264732, 22890305, 23232695, 25307298, 27789404, 27966372, 28057753, 29228531, 29416845, 30063093, 31209758, 35118825, 35139903, 36216811, 37257768 View all (5 more)
Kleefstra Syndrome	Inhibit	28742076
Language Development Disorders	Associate	22890305
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	25079219
Leukemia Myeloid Acute	Associate	28301528
Leukoplakia	Associate	36444596
Lung Neoplasms	Associate	28615290
Lung Neoplasms	Stimulate	34214254
Mental Disorders	Associate	19264732, 29416845
Muscle Hypotonia	Associate	29416845
Neoplasms	Associate	20118233, 34214254, 37894922
Nervous System Diseases	Associate	21681934, 22890305
Neuroblastoma	Associate	34016720, 37894922
Neurocognitive Disorders	Associate	29416845
Neurodegenerative Diseases	Associate	19264732
Neurodevelopmental Disorders	Associate	19264732
Oncogene Addiction	Stimulate	20118233
Pathological Conditions Anatomical	Associate	37257768
Pediatric acute onset neuropsychiatric syndrome	Associate	29416845
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	30305606
Prostatic Neoplasms	Associate	37663929
Sarcoma Ewing	Associate	37894922
Schizophrenia	Associate	36216811
Squamous Cell Carcinoma of Head and Neck	Associate	36444596
Thakker Donnai syndrome	Associate	38485322
Tourette Syndrome	Associate	37817104

EHMT1 (euchromatic histone lysine methyltransferase 1)