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	2145
Gene name	Enhancer of zeste 1 polycomb repressive complex 2 subunit
Gene symbol	EZH1
Synonyms (NCBI Gene)	KMT6B
Chromosome	17
Chromosome location	17q21.2
Summary	EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMe

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020281	hsa-miR-130b-3p	Sequencing	20371350
MIRT028152	hsa-miR-93-5p	Sequencing	20371350
MIRT042703	hsa-miR-346	CLASH	23622248
MIRT040210	hsa-miR-615-3p	CLASH	23622248
MIRT039043	hsa-miR-766-3p	CLASH	23622248
MIRT440701	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT440700	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT440699	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440701	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT440700	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT146014	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT146019	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT146015	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT146023	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT727735	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT727734	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT028152	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT727733	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT440699	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT973902	hsa-miR-106a	CLIP-seq
MIRT973903	hsa-miR-106b	CLIP-seq
MIRT973904	hsa-miR-1178	CLIP-seq
MIRT973905	hsa-miR-1184	CLIP-seq
MIRT973906	hsa-miR-1224-3p	CLIP-seq
MIRT973907	hsa-miR-1252	CLIP-seq
MIRT973908	hsa-miR-1260	CLIP-seq
MIRT973909	hsa-miR-1260b	CLIP-seq
MIRT973910	hsa-miR-128	CLIP-seq
MIRT973911	hsa-miR-1280	CLIP-seq
MIRT973912	hsa-miR-1301	CLIP-seq
MIRT973913	hsa-miR-140-3p	CLIP-seq
MIRT973914	hsa-miR-150	CLIP-seq
MIRT973915	hsa-miR-155	CLIP-seq
MIRT973916	hsa-miR-17	CLIP-seq
MIRT973917	hsa-miR-182	CLIP-seq
MIRT973918	hsa-miR-20a	CLIP-seq
MIRT973919	hsa-miR-20b	CLIP-seq
MIRT973920	hsa-miR-3150b-3p	CLIP-seq
MIRT973921	hsa-miR-3156-3p	CLIP-seq
MIRT973922	hsa-miR-3169	CLIP-seq
MIRT973923	hsa-miR-3202	CLIP-seq
MIRT973924	hsa-miR-3609	CLIP-seq
MIRT973925	hsa-miR-3940-3p	CLIP-seq
MIRT973926	hsa-miR-3942-3p	CLIP-seq
MIRT973927	hsa-miR-4301	CLIP-seq
MIRT973928	hsa-miR-4327	CLIP-seq
MIRT973929	hsa-miR-4419a	CLIP-seq
MIRT973930	hsa-miR-4420	CLIP-seq
MIRT973931	hsa-miR-4457	CLIP-seq
MIRT973932	hsa-miR-4476	CLIP-seq
MIRT973933	hsa-miR-4481	CLIP-seq
MIRT973934	hsa-miR-4510	CLIP-seq
MIRT973935	hsa-miR-4515	CLIP-seq
MIRT973936	hsa-miR-4639-5p	CLIP-seq
MIRT973937	hsa-miR-4659a-3p	CLIP-seq
MIRT973938	hsa-miR-4659b-3p	CLIP-seq
MIRT973939	hsa-miR-4660	CLIP-seq
MIRT973940	hsa-miR-4700-3p	CLIP-seq
MIRT973941	hsa-miR-4713-5p	CLIP-seq
MIRT973942	hsa-miR-4745-5p	CLIP-seq
MIRT973943	hsa-miR-4763-5p	CLIP-seq
MIRT973944	hsa-miR-4778-3p	CLIP-seq
MIRT973945	hsa-miR-4784	CLIP-seq
MIRT973946	hsa-miR-4786-3p	CLIP-seq
MIRT973947	hsa-miR-4796-3p	CLIP-seq
MIRT973948	hsa-miR-4797-5p	CLIP-seq
MIRT973949	hsa-miR-5047	CLIP-seq
MIRT973950	hsa-miR-513b	CLIP-seq
MIRT973951	hsa-miR-519a	CLIP-seq
MIRT973952	hsa-miR-519b-3p	CLIP-seq
MIRT973953	hsa-miR-519c-3p	CLIP-seq
MIRT973954	hsa-miR-519d	CLIP-seq
MIRT973955	hsa-miR-532-3p	CLIP-seq
MIRT973956	hsa-miR-548ah	CLIP-seq
MIRT973957	hsa-miR-765	CLIP-seq
MIRT973958	hsa-miR-767-3p	CLIP-seq
MIRT973959	hsa-miR-93	CLIP-seq
MIRT973960	hsa-miR-942	CLIP-seq
MIRT1988514	hsa-miR-1207-5p	CLIP-seq
MIRT1988515	hsa-miR-1302	CLIP-seq
MIRT973913	hsa-miR-140-3p	CLIP-seq
MIRT973914	hsa-miR-150	CLIP-seq
MIRT1988516	hsa-miR-205	CLIP-seq
MIRT1988517	hsa-miR-2682	CLIP-seq
MIRT1988518	hsa-miR-3117-3p	CLIP-seq
MIRT1988519	hsa-miR-3152-5p	CLIP-seq
MIRT1988520	hsa-miR-3182	CLIP-seq
MIRT1988521	hsa-miR-3183	CLIP-seq
MIRT1988522	hsa-miR-3192	CLIP-seq
MIRT1988523	hsa-miR-324-5p	CLIP-seq
MIRT1988524	hsa-miR-326	CLIP-seq
MIRT1988525	hsa-miR-330-5p	CLIP-seq
MIRT1988526	hsa-miR-4257	CLIP-seq
MIRT1988527	hsa-miR-4298	CLIP-seq
MIRT1988528	hsa-miR-4423-3p	CLIP-seq
MIRT1988529	hsa-miR-4464	CLIP-seq
MIRT1988530	hsa-miR-4469	CLIP-seq
MIRT1988531	hsa-miR-449c	CLIP-seq
MIRT1988532	hsa-miR-4654	CLIP-seq
MIRT973937	hsa-miR-4659a-3p	CLIP-seq
MIRT973938	hsa-miR-4659b-3p	CLIP-seq
MIRT973940	hsa-miR-4700-3p	CLIP-seq
MIRT973941	hsa-miR-4713-5p	CLIP-seq
MIRT1988533	hsa-miR-4723-3p	CLIP-seq
MIRT1988534	hsa-miR-4733-5p	CLIP-seq
MIRT1988535	hsa-miR-4748	CLIP-seq
MIRT1988536	hsa-miR-4763-3p	CLIP-seq
MIRT973943	hsa-miR-4763-5p	CLIP-seq
MIRT1988537	hsa-miR-4769-5p	CLIP-seq
MIRT1988538	hsa-miR-4774-3p	CLIP-seq
MIRT973944	hsa-miR-4778-3p	CLIP-seq
MIRT973955	hsa-miR-532-3p	CLIP-seq
MIRT1988539	hsa-miR-554	CLIP-seq
MIRT1988540	hsa-miR-940	CLIP-seq
MIRT973902	hsa-miR-106a	CLIP-seq
MIRT973903	hsa-miR-106b	CLIP-seq
MIRT2222957	hsa-miR-1200	CLIP-seq
MIRT2222958	hsa-miR-1251	CLIP-seq
MIRT973910	hsa-miR-128	CLIP-seq
MIRT2222959	hsa-miR-143	CLIP-seq
MIRT2222960	hsa-miR-148a	CLIP-seq
MIRT2222961	hsa-miR-148b	CLIP-seq
MIRT973914	hsa-miR-150	CLIP-seq
MIRT2222962	hsa-miR-152	CLIP-seq
MIRT973916	hsa-miR-17	CLIP-seq
MIRT2222963	hsa-miR-1914	CLIP-seq
MIRT2222964	hsa-miR-1915	CLIP-seq
MIRT973918	hsa-miR-20a	CLIP-seq
MIRT973919	hsa-miR-20b	CLIP-seq
MIRT2222965	hsa-miR-214	CLIP-seq
MIRT2222966	hsa-miR-2392	CLIP-seq
MIRT2222967	hsa-miR-3153	CLIP-seq
MIRT1988521	hsa-miR-3183	CLIP-seq
MIRT973923	hsa-miR-3202	CLIP-seq
MIRT1988524	hsa-miR-326	CLIP-seq
MIRT1988525	hsa-miR-330-5p	CLIP-seq
MIRT973924	hsa-miR-3609	CLIP-seq
MIRT2222968	hsa-miR-3619-5p	CLIP-seq
MIRT2222969	hsa-miR-4264	CLIP-seq
MIRT2222970	hsa-miR-4279	CLIP-seq
MIRT2222971	hsa-miR-4302	CLIP-seq
MIRT2222972	hsa-miR-4324	CLIP-seq
MIRT973931	hsa-miR-4457	CLIP-seq
MIRT2222973	hsa-miR-4477a	CLIP-seq
MIRT2222974	hsa-miR-4648	CLIP-seq
MIRT2222975	hsa-miR-4649-3p	CLIP-seq
MIRT1988532	hsa-miR-4654	CLIP-seq
MIRT2222976	hsa-miR-4668-5p	CLIP-seq
MIRT973941	hsa-miR-4713-5p	CLIP-seq
MIRT2222977	hsa-miR-4717-5p	CLIP-seq
MIRT1988533	hsa-miR-4723-3p	CLIP-seq
MIRT2222978	hsa-miR-4726-3p	CLIP-seq
MIRT2222979	hsa-miR-4768-3p	CLIP-seq
MIRT2222980	hsa-miR-4768-5p	CLIP-seq
MIRT1988537	hsa-miR-4769-5p	CLIP-seq
MIRT2222981	hsa-miR-4770	CLIP-seq
MIRT973947	hsa-miR-4796-3p	CLIP-seq
MIRT2222982	hsa-miR-4797-3p	CLIP-seq
MIRT973950	hsa-miR-513b	CLIP-seq
MIRT973951	hsa-miR-519a	CLIP-seq
MIRT973952	hsa-miR-519b-3p	CLIP-seq
MIRT973953	hsa-miR-519c-3p	CLIP-seq
MIRT973954	hsa-miR-519d	CLIP-seq
MIRT973955	hsa-miR-532-3p	CLIP-seq
MIRT2222983	hsa-miR-544b	CLIP-seq
MIRT973956	hsa-miR-548ah	CLIP-seq
MIRT1988539	hsa-miR-554	CLIP-seq
MIRT2222984	hsa-miR-665	CLIP-seq
MIRT2222985	hsa-miR-761	CLIP-seq
MIRT973959	hsa-miR-93	CLIP-seq
MIRT2387583	hsa-miR-302a	CLIP-seq
MIRT2387584	hsa-miR-302b	CLIP-seq
MIRT2387585	hsa-miR-302c	CLIP-seq
MIRT2387586	hsa-miR-302d	CLIP-seq
MIRT2387587	hsa-miR-302e	CLIP-seq
MIRT2387588	hsa-miR-372	CLIP-seq
MIRT2387589	hsa-miR-373	CLIP-seq
MIRT2387590	hsa-miR-520a-3p	CLIP-seq
MIRT2387591	hsa-miR-520b	CLIP-seq
MIRT2387592	hsa-miR-520c-3p	CLIP-seq
MIRT2387593	hsa-miR-520d-3p	CLIP-seq
MIRT2387594	hsa-miR-520e	CLIP-seq
MIRT2526883	hsa-let-7a	CLIP-seq
MIRT2526884	hsa-let-7b	CLIP-seq
MIRT2526885	hsa-let-7c	CLIP-seq
MIRT2526886	hsa-let-7d	CLIP-seq
MIRT2526887	hsa-let-7e	CLIP-seq
MIRT2526888	hsa-let-7f	CLIP-seq
MIRT2526889	hsa-let-7g	CLIP-seq
MIRT2526890	hsa-let-7i	CLIP-seq
MIRT2526891	hsa-miR-103a	CLIP-seq
MIRT2526892	hsa-miR-107	CLIP-seq
MIRT973904	hsa-miR-1178	CLIP-seq
MIRT973905	hsa-miR-1184	CLIP-seq
MIRT2526893	hsa-miR-1228	CLIP-seq
MIRT973907	hsa-miR-1252	CLIP-seq
MIRT2526894	hsa-miR-1273d	CLIP-seq
MIRT973910	hsa-miR-128	CLIP-seq
MIRT2526895	hsa-miR-1281	CLIP-seq
MIRT973912	hsa-miR-1301	CLIP-seq
MIRT2526896	hsa-miR-1321	CLIP-seq
MIRT973913	hsa-miR-140-3p	CLIP-seq
MIRT973915	hsa-miR-155	CLIP-seq
MIRT2526897	hsa-miR-15a	CLIP-seq
MIRT2526898	hsa-miR-15b	CLIP-seq
MIRT2526899	hsa-miR-16	CLIP-seq
MIRT2526900	hsa-miR-18a	CLIP-seq
MIRT2526901	hsa-miR-18b	CLIP-seq
MIRT2526902	hsa-miR-1912	CLIP-seq
MIRT2526903	hsa-miR-195	CLIP-seq
MIRT2526904	hsa-miR-196a	CLIP-seq
MIRT2526905	hsa-miR-196b	CLIP-seq
MIRT2526906	hsa-miR-28-5p	CLIP-seq
MIRT2526907	hsa-miR-3135b	CLIP-seq
MIRT2526908	hsa-miR-3139	CLIP-seq
MIRT2526909	hsa-miR-3155	CLIP-seq
MIRT2526910	hsa-miR-3155b	CLIP-seq
MIRT2526911	hsa-miR-3190	CLIP-seq
MIRT973923	hsa-miR-3202	CLIP-seq
MIRT2526912	hsa-miR-3618	CLIP-seq
MIRT2526913	hsa-miR-3661	CLIP-seq
MIRT2526914	hsa-miR-3921	CLIP-seq
MIRT2526915	hsa-miR-3978	CLIP-seq
MIRT2526916	hsa-miR-424	CLIP-seq
MIRT2526917	hsa-miR-4275	CLIP-seq
MIRT973928	hsa-miR-4327	CLIP-seq
MIRT973929	hsa-miR-4419a	CLIP-seq
MIRT973930	hsa-miR-4420	CLIP-seq
MIRT2526918	hsa-miR-4421	CLIP-seq
MIRT2526919	hsa-miR-4443	CLIP-seq
MIRT2526920	hsa-miR-4458	CLIP-seq
MIRT973932	hsa-miR-4476	CLIP-seq
MIRT2526921	hsa-miR-4487	CLIP-seq
MIRT2526922	hsa-miR-4491	CLIP-seq
MIRT2526923	hsa-miR-4500	CLIP-seq
MIRT973934	hsa-miR-4510	CLIP-seq
MIRT2526924	hsa-miR-4524	CLIP-seq
MIRT973936	hsa-miR-4639-5p	CLIP-seq
MIRT2526925	hsa-miR-4645-5p	CLIP-seq
MIRT2526926	hsa-miR-4653-5p	CLIP-seq
MIRT2526927	hsa-miR-4657	CLIP-seq
MIRT973939	hsa-miR-4660	CLIP-seq
MIRT2526928	hsa-miR-4673	CLIP-seq
MIRT2526929	hsa-miR-4682	CLIP-seq
MIRT2526930	hsa-miR-4685-5p	CLIP-seq
MIRT2526931	hsa-miR-4722-3p	CLIP-seq
MIRT2526932	hsa-miR-4735-3p	CLIP-seq
MIRT2526933	hsa-miR-4739	CLIP-seq
MIRT2526934	hsa-miR-4755-3p	CLIP-seq
MIRT2526935	hsa-miR-4756-5p	CLIP-seq
MIRT973943	hsa-miR-4763-5p	CLIP-seq
MIRT973944	hsa-miR-4778-3p	CLIP-seq
MIRT2526936	hsa-miR-484	CLIP-seq
MIRT2526937	hsa-miR-497	CLIP-seq
MIRT2526938	hsa-miR-503	CLIP-seq
MIRT973949	hsa-miR-5047	CLIP-seq
MIRT2526939	hsa-miR-615-5p	CLIP-seq
MIRT2526940	hsa-miR-622	CLIP-seq
MIRT2526941	hsa-miR-631	CLIP-seq
MIRT2526942	hsa-miR-646	CLIP-seq
MIRT2526943	hsa-miR-708	CLIP-seq
MIRT973957	hsa-miR-765	CLIP-seq
MIRT973958	hsa-miR-767-3p	CLIP-seq
MIRT2526944	hsa-miR-934	CLIP-seq
MIRT2526945	hsa-miR-98	CLIP-seq
MIRT2526883	hsa-let-7a	CLIP-seq
MIRT2526884	hsa-let-7b	CLIP-seq
MIRT2526885	hsa-let-7c	CLIP-seq
MIRT2526886	hsa-let-7d	CLIP-seq
MIRT2526887	hsa-let-7e	CLIP-seq
MIRT2526888	hsa-let-7f	CLIP-seq
MIRT2526889	hsa-let-7g	CLIP-seq
MIRT2526890	hsa-let-7i	CLIP-seq
MIRT2526891	hsa-miR-103a	CLIP-seq
MIRT2526892	hsa-miR-107	CLIP-seq
MIRT2526893	hsa-miR-1228	CLIP-seq
MIRT1988515	hsa-miR-1302	CLIP-seq
MIRT2526896	hsa-miR-1321	CLIP-seq
MIRT973913	hsa-miR-140-3p	CLIP-seq
MIRT973915	hsa-miR-155	CLIP-seq
MIRT2526897	hsa-miR-15a	CLIP-seq
MIRT2526898	hsa-miR-15b	CLIP-seq
MIRT2526899	hsa-miR-16	CLIP-seq
MIRT2526900	hsa-miR-18a	CLIP-seq
MIRT2526901	hsa-miR-18b	CLIP-seq
MIRT2526903	hsa-miR-195	CLIP-seq
MIRT2526904	hsa-miR-196a	CLIP-seq
MIRT2526905	hsa-miR-196b	CLIP-seq
MIRT2526911	hsa-miR-3190	CLIP-seq
MIRT2680423	hsa-miR-323-5p	CLIP-seq
MIRT2526912	hsa-miR-3618	CLIP-seq
MIRT2526913	hsa-miR-3661	CLIP-seq
MIRT2526915	hsa-miR-3978	CLIP-seq
MIRT2526916	hsa-miR-424	CLIP-seq
MIRT2526917	hsa-miR-4275	CLIP-seq
MIRT1988527	hsa-miR-4298	CLIP-seq
MIRT973929	hsa-miR-4419a	CLIP-seq
MIRT2526918	hsa-miR-4421	CLIP-seq
MIRT2526920	hsa-miR-4458	CLIP-seq
MIRT2526922	hsa-miR-4491	CLIP-seq
MIRT2526923	hsa-miR-4500	CLIP-seq
MIRT973934	hsa-miR-4510	CLIP-seq
MIRT2526924	hsa-miR-4524	CLIP-seq
MIRT2526925	hsa-miR-4645-5p	CLIP-seq
MIRT2526927	hsa-miR-4657	CLIP-seq
MIRT2526928	hsa-miR-4673	CLIP-seq
MIRT2526931	hsa-miR-4722-3p	CLIP-seq
MIRT2526932	hsa-miR-4735-3p	CLIP-seq
MIRT2526933	hsa-miR-4739	CLIP-seq
MIRT2526934	hsa-miR-4755-3p	CLIP-seq
MIRT2526935	hsa-miR-4756-5p	CLIP-seq
MIRT973944	hsa-miR-4778-3p	CLIP-seq
MIRT2526937	hsa-miR-497	CLIP-seq
MIRT2526938	hsa-miR-503	CLIP-seq
MIRT2680424	hsa-miR-552	CLIP-seq
MIRT2680425	hsa-miR-601	CLIP-seq
MIRT2526940	hsa-miR-622	CLIP-seq
MIRT2526941	hsa-miR-631	CLIP-seq
MIRT2526942	hsa-miR-646	CLIP-seq
MIRT2680426	hsa-miR-661	CLIP-seq
MIRT973957	hsa-miR-765	CLIP-seq
MIRT2526944	hsa-miR-934	CLIP-seq
MIRT2526945	hsa-miR-98	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS	19026781
GO:0000781	Component	Chromosome, telomeric region	ISS	9214638
GO:0000792	Component	Heterochromatin	ISS	19026781
GO:0003677	Function	DNA binding	ISS	19026781
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	TAS	8921387
GO:0003714	Function	Transcription corepressor activity	ISS	19026781
GO:0005515	Function	Protein binding	IPI	20211142, 24981860, 27705803, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	ISS	19026781
GO:0008168	Function	Methyltransferase activity	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	8921387
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	25620564
GO:0016740	Function	Transferase activity	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0031491	Function	Nucleosome binding	IEA
GO:0031491	Function	Nucleosome binding	IMP	33514705
GO:0031507	Process	Heterochromatin formation	IBA
GO:0031507	Process	Heterochromatin formation	ISS	19026781
GO:0031509	Process	Subtelomeric heterochromatin formation	ISS	9214638
GO:0032259	Process	Methylation	IEA
GO:0035098	Component	ESC/E(Z) complex	IBA
GO:0035098	Component	ESC/E(Z) complex	IDA	20075857
GO:0035098	Component	ESC/E(Z) complex	IEA
GO:0042054	Function	Histone methyltransferase activity	IEA
GO:0042393	Function	Histone binding	ISS	19026781
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046976	Function	Histone H3K27 methyltransferase activity	IBA
GO:0046976	Function	Histone H3K27 methyltransferase activity	IEA
GO:0046976	Function	Histone H3K27 methyltransferase activity	IMP	33514705
GO:0140693	Function	Molecular condensate scaffold activity	IMP	33514705
GO:0140951	Function	Histone H3K27 trimethyltransferase activity	IEA

MIM	HGNC	e!Ensembl
601674	3526	ENSG00000108799

Q92800

Protein name

Histone-lysine N-methyltransferase EZH1 (EC 2.1.1.356) (ENX-2) (Enhancer of zeste homolog 1)

Protein function

Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3

PDB

7KSO , 7KSR , 7KTP , 7TD5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11616	EZH2_WD-Binding	39 → 68	WD repeat binding protein EZH2	Family
PF18118	PRC2_HTH_1	159 → 262	Polycomb repressive complex 2 tri-helical domain	Domain
PF18264	preSET_CXC	560 → 591	CXC domain	Domain
PF00856	SET	624 → 728	SET domain	Family

Sequence

MEIPNPPTSKCITYWKRKVKSEYMRLRQLKRLQANMGAKALYVANFAKVQEKTQILNEEW
KKLRVQPVQSMKPVSGHPFLKKCTIESIFPGFASQHMLMRSLNTVALVPIMYSWSPLQQN
FMVEDETVLCNIPYMGDEVKEEDETFIEELINNYDGKVHGEEEMIPGSVLISDAVFLELV
DALNQYSDEEEEGHNDTSDGKQDDSKEDLPVTRKRKRHAIEGNKKSSKKQFPNDMIFSAI
ASMFPENGVPDDMKERYRELTEMSDPNALPPQCTPNIDGPNAKSVQREQSLHSFHTLFCR
RCFKYDCFLHPFHATPNVYKRKNKEIKIEPEPCGTDCFLLLEGAKEYAMLHNPRSKCSGR
RRRRHHIVSASCSNASASAVAETKEGDSDRDTGNDWASSSSEANSRCQTPTKQKASPAPP
QLCVVEAPSEPVEWTGAEESLFRVFHGTYFNNFCSIARLLGTKTCKQVFQFAVKESLILK
LPTDELMNPSQKKKRKHRLWAAHCRKIQLKKDNSSTQVYNYQPCDHPDRPCDSTCPCIMT
QNFCEKFCQCNPDCQNRFPGCRCKTQCNTKQCPCYLAVRECDPDLCLTCGASEHWDCKVV
SCKNCSIQRGLKKHLLLAPSDVAGWGTFIKESVQKNEFISEYCGELISQDEADRRGKVYD
KYMSSFLFNLNNDFVVDATRKGNKIRFANHSVNPNCYAKVVMVNGDHRIGIFAKRAIQAG
EELFFDYRYSQADALKYVGIERETDVL

Sequence length

747

Interactions

View interactions

	KEGG
	Lysine degradation Metabolic pathways Polycomb repressive complex

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
EZH1-neurodevelopmental syndrome	Likely pathogenic; Pathogenic	rs2543817586, rs2543843968, rs2543869284, rs2053293877	RCV003307360 RCV003307362 RCV003307363 RCV003294165	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EZH1-related disorder	Likely pathogenic; Pathogenic	rs2053293877	RCV001255619	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (43)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma, Oxyphilic	Adenocarcinoma	BEFREE	29723601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	24260522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	24260522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31396353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38554427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28701475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30940663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34661273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28701475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	22430437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30689973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	29723601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24260522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28454437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	29845708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28593442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	29723601		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31699991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28951561, 30940663, 31794134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28741798, 31747604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	31747604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	31565482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31396353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28490465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28490465, 28741798, 30343511, 30867289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	30867289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	31565482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28490465, 30343511, 31571328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31571328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28490465, 29723601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	30867289	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27633093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28580939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	34054720, 36611251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28490465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30099093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29041935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	38309675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	27500488, 29723601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Gland Oncocytic Adenoma	Thyroid Gland Oncocytic Adenoma	BEFREE	29723601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29723601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	27500488	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35846880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

EZH1 (enhancer of zeste 1 polycomb repressive complex 2 subunit)