Annotation Detail for EZH2

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Basic Information Top

Gene Symbol:	EZH2 ( ENX-1,ENX1,EZH1,KMT6,KMT6A,MGC9169 )
Gene Full Name:	enhancer of zeste homolog 2 (Drosophila)
Band:	7q36.1
Quick Links	Entrez ID:2146; OMIM: 601573; Uniprot ID:EZH2_HUMAN; ENSEMBL ID: ENSG00000106462; HGNC ID: 3527
Relate to Another Database:	SFARIGene; denovo-db

General

Expression

Regulation

Pathways, Diseases and Drugs

PTM

TF binding site

miRNA targets

Cis-NATs

Post Translation Modification

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PTM Sites from Uniprot:7 results
Experimental PTM Sites from dbPTM:3 results
Predicted PTM Sites by profile HMM from dbPTM:30 results

Location(AA)	Modification
21	Phosphoserine; by PKB/AKT1.
339	Phosphothreonine.
363	Phosphoserine.
366	Phosphoserine.
367	Phosphothreonine.
380	Phosphoserine.
487	Phosphothreonine.

Location(AA)	Modifications	Resource
21	Phosphoserine	Phospho.ELM 6.0
487	Phosphothreonine.	Swiss-Prot 53.0
487	Phosphothreonine	Phospho.ELM 6.0

Location(AA)	Modification	Resource
7	O-linked	HMM predict
14	S-palmitoyl	HMM predict
244	Phosphotyrosine(Syk)	HMM predict
305	Phosphothreonine(PKC)	HMM predict
311	Phosphothreonine(PKA)	HMM predict
345	Phosphothreonine(CDK)	HMM predict
355	Methylarginine	HMM predict
360	N-linked	HMM predict
361	N-linked	HMM predict
362	O-linked	HMM predict
366	Phosphoserine(CK1)	HMM predict
378	Phosphothreonine(CK2)	HMM predict
405	Phosphoserine(CK2)	HMM predict
405	Phosphoserine(CK1)	HMM predict
406	Phosphoserine(CK2)	HMM predict
406	Phosphoserine(CK1)	HMM predict
407	Phosphoserine(CK1)	HMM predict
407	Phosphoserine(CK2)	HMM predict
487	Phosphothreonine(MAPK)	HMM predict
487	Phosphothreonine(CDC2)	HMM predict
518	Phosphotyrosine(Abl)	HMM predict
598	N-linked	HMM predict
603	N-linked	HMM predict
647	Phosphoserine(ATM)	HMM predict
688	N-linked	HMM predict
692	N-linked	HMM predict
694	N-linked	HMM predict
718	Phosphothreonine(CK2)	HMM predict
718	Phosphothreonine(PKC)	HMM predict
726	Sulfotyrosine	HMM predict

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_004456
Location:chr7 148135407-148212346
strand:-

Upstream the gene:14 results
Downstream the gene:0 results
Inside the gene:9 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	148212777	148212976	199	530
CTCF	G2	GSE9613	148221945	148222132	187	9692
Fos	K562	GSE19551	148212039	148213072	1033	209
Myc	hES	GSE17917	148212412	148212822	410	271
PHF8	293T	GSE20725	148211362	148213369	2007	19
PHF8	HeLa	GSE20725	148211772	148213239	1467	159
PHF8	Hs68plusFBS	GSE20725	148212145	148213172	1027	312
Rb	Growing	GSE19898	148212591	148212798	207	348
Rb	Quiescent	GSE19898	148212560	148212900	340	384
Rb	Senescent	GSE19898	148212215	148213078	863	300
Rb	shRbQuiescent	GSE19898	148212541	148212877	336	363
Rb	shRbSenescence	GSE19898	148212485	148212858	373	325
hScc1	CdLS	GSE12603	148212022	148212976	954	153
p130	shRbSenescent	GSE19898	148212553	148213050	497	455

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length
CTCF	CD4	GSE12889	148184403	148184660	257
CTCF	CD4	SISSRdata	148184403	148184660	257
CTCF	G2	GSE9613	148211409	148212394	985
H3K4me3	colorectal	cancer	148210610	148211483	873
NRSF	mAb	Jurkat	148210040	148211172	1132
TAF	Hela	GSE8489	148177234	148177386	152
TAF	Hela	GSE8489	148210146	148211281	1135
TAF	k562	GSE8489	148210040	148211483	1443
hScc1	Bcell	GSE12603	148211065	148212976	1911

Validated miRNA targets

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miR Walk:170 results
Tarbase V5.0:2 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-miR-1	hsa-mir-1-2	18	14697198
hsa-miR-1	hsa-mir-1-1	20	14697198
hsa-miR-1	hsa-mir-1-2	18	14697198
hsa-miR-1	hsa-mir-1-1	20	14697198
hsa-miR-101	hsa-mir-101-1	1	21368858
hsa-miR-101	hsa-mir-101-2	9	21368858
hsa-miR-101	hsa-mir-101-1	1	21270667
hsa-miR-101	hsa-mir-101-2	9	21270667
hsa-miR-101	hsa-mir-101-1	1	20965124
hsa-miR-101	hsa-mir-101-2	9	20965124
hsa-miR-101	hsa-mir-101-1	1	20712078
hsa-miR-101	hsa-mir-101-2	9	20712078
hsa-miR-101	hsa-mir-101-1	1	20478051
hsa-miR-101	hsa-mir-101-2	9	20478051
hsa-miR-101	hsa-mir-101-1	1	20444294
hsa-miR-101	hsa-mir-101-2	9	20444294
hsa-miR-101	hsa-mir-101-1	1	19258506
hsa-miR-101	hsa-mir-101-2	9	19258506
hsa-miR-101	hsa-mir-101-1	1	19008416
hsa-miR-101	hsa-mir-101-2	9	19008416
hsa-miR-101	hsa-mir-101-1	1	14697198
hsa-miR-101	hsa-mir-101-2	9	14697198
hsa-miR-101	hsa-mir-101-1	1	19625769
hsa-miR-101	hsa-mir-101-2	9	19625769
hsa-miR-101	hsa-mir-101-1	1	21368858
hsa-miR-101	hsa-mir-101-2	9	21368858
hsa-miR-101	hsa-mir-101-1	1	21270667
hsa-miR-101	hsa-mir-101-2	9	21270667
hsa-miR-101	hsa-mir-101-1	1	20965124
hsa-miR-101	hsa-mir-101-2	9	20965124
hsa-miR-101	hsa-mir-101-1	1	20712078
hsa-miR-101	hsa-mir-101-2	9	20712078
hsa-miR-101	hsa-mir-101-1	1	20478051
hsa-miR-101	hsa-mir-101-2	9	20478051
hsa-miR-101	hsa-mir-101-1	1	20444294
hsa-miR-101	hsa-mir-101-2	9	20444294
hsa-miR-101	hsa-mir-101-1	1	19258506
hsa-miR-101	hsa-mir-101-2	9	19258506
hsa-miR-101	hsa-mir-101-1	1	19008416
hsa-miR-101	hsa-mir-101-2	9	19008416
hsa-miR-101	hsa-mir-101-1	1	14697198
hsa-miR-101	hsa-mir-101-2	9	14697198
hsa-miR-101	hsa-mir-101-1	1	19625769
hsa-miR-101	hsa-mir-101-2	9	19625769
hsa-miR-101*	hsa-mir-101-1	1	19008416
hsa-miR-101*	hsa-mir-101-1	1	19008416
hsa-miR-1224-3p	hsa-mir-1224	3	21363966
hsa-miR-1224-3p	hsa-mir-1224	3	21363966
hsa-miR-1224-5p	hsa-mir-1224	3	21363966
hsa-miR-1224-5p	hsa-mir-1224	3	21363966
hsa-miR-130a	hsa-mir-130a	11	14697198
hsa-miR-130a	hsa-mir-130a	11	14697198
hsa-miR-130a*	hsa-mir-130a	11	14697198
hsa-miR-130a*	hsa-mir-130a	11	14697198
hsa-miR-132	hsa-mir-132	17	19843474
hsa-miR-132	hsa-mir-132	17	19843474
hsa-miR-132*	hsa-mir-132	17	19843474
hsa-miR-132*	hsa-mir-132	17	19843474
hsa-miR-137	hsa-mir-137	1	20368621
hsa-miR-137	hsa-mir-137	1	20368621
hsa-miR-138	hsa-mir-138-2	16	21070394
hsa-miR-138	hsa-mir-138-1	3	21070394
hsa-miR-138	hsa-mir-138-2	16	21070394
hsa-miR-138	hsa-mir-138-1	3	21070394
hsa-miR-141	hsa-mir-141	12	20014922
hsa-miR-141	hsa-mir-141	12	20014922
hsa-miR-141*	hsa-mir-141	12	20014922
hsa-miR-141*	hsa-mir-141	12	20014922
hsa-miR-199a-3p	hsa-mir-199a-1	19	21363966
hsa-miR-199a-3p	hsa-mir-199a-2	1	21363966
hsa-miR-199a-3p	hsa-mir-199a-1	19	21363966
hsa-miR-199a-3p	hsa-mir-199a-2	1	21363966
hsa-miR-199a-5p	hsa-mir-199a-1	19	21363966
hsa-miR-199a-5p	hsa-mir-199a-2	1	21363966
hsa-miR-199a-5p	hsa-mir-199a-1	19	21363966
hsa-miR-199a-5p	hsa-mir-199a-2	1	21363966
hsa-miR-19a	hsa-mir-19a	13	14697198
hsa-miR-19a	hsa-mir-19a	13	14697198
hsa-miR-19a*	hsa-mir-19a	13	14697198
hsa-miR-19a*	hsa-mir-19a	13	14697198
hsa-miR-214	hsa-mir-214	1	21363966
hsa-miR-214	hsa-mir-214	1	19818710
hsa-miR-214	hsa-mir-214	1	21363966
hsa-miR-214	hsa-mir-214	1	19818710
hsa-miR-214*	hsa-mir-214	1	21363966
hsa-miR-214*	hsa-mir-214	1	19818710
hsa-miR-214*	hsa-mir-214	1	21363966
hsa-miR-214*	hsa-mir-214	1	19818710
hsa-miR-221	hsa-mir-221	X	20014922
hsa-miR-221	hsa-mir-221	X	20014922
hsa-miR-221*	hsa-mir-221	X	20014922
hsa-miR-221*	hsa-mir-221	X	20014922
hsa-miR-23a	hsa-mir-23a	19	14697198
hsa-miR-23a	hsa-mir-23a	19	14697198
hsa-miR-23a*	hsa-mir-23a	19	14697198
hsa-miR-23a*	hsa-mir-23a	19	14697198
hsa-miR-23b	hsa-mir-23b	9	14697198
hsa-miR-23b	hsa-mir-23b	9	14697198
hsa-miR-23b*	hsa-mir-23b	9	14697198
hsa-miR-23b*	hsa-mir-23b	9	14697198
hsa-miR-26a	hsa-mir-26a-1	3	21368858
hsa-miR-26a	hsa-mir-26a-2	12	21368858
hsa-miR-26a	hsa-mir-26a-1	3	21199804
hsa-miR-26a	hsa-mir-26a-2	12	21199804
hsa-miR-26a	hsa-mir-26a-1	3	20478051
hsa-miR-26a	hsa-mir-26a-2	12	20478051
hsa-miR-26a	hsa-mir-26a-1	3	19197161
hsa-miR-26a	hsa-mir-26a-2	12	19197161
hsa-miR-26a	hsa-mir-26a-1	3	18713946
hsa-miR-26a	hsa-mir-26a-2	12	18713946
hsa-miR-26a	hsa-mir-26a-1	3	18281287
hsa-miR-26a	hsa-mir-26a-2	12	18281287
hsa-miR-26a	hsa-mir-26a-1	3	20952513
hsa-miR-26a	hsa-mir-26a-1	3	14697198
hsa-miR-26a	hsa-mir-26a-2	12	14697198
hsa-miR-26a	hsa-mir-26a-1	3	21368858
hsa-miR-26a	hsa-mir-26a-2	12	21368858
hsa-miR-26a	hsa-mir-26a-1	3	21199804
hsa-miR-26a	hsa-mir-26a-2	12	21199804
hsa-miR-26a	hsa-mir-26a-1	3	20478051
hsa-miR-26a	hsa-mir-26a-2	12	20478051
hsa-miR-26a	hsa-mir-26a-1	3	19197161
hsa-miR-26a	hsa-mir-26a-2	12	19197161
hsa-miR-26a	hsa-mir-26a-1	3	18713946
hsa-miR-26a	hsa-mir-26a-2	12	18713946
hsa-miR-26a	hsa-mir-26a-1	3	18281287
hsa-miR-26a	hsa-mir-26a-2	12	18281287
hsa-miR-26a	hsa-mir-26a-1	3	20952513
hsa-miR-26a	hsa-mir-26a-1	3	14697198
hsa-miR-26a	hsa-mir-26a-2	12	14697198
hsa-miR-26a-1*	hsa-mir-26a-1	3	21199804
hsa-miR-26a-1*	hsa-mir-26a-1	3	18713946
hsa-miR-26a-1*	hsa-mir-26a-1	3	20952513
hsa-miR-26a-1*	hsa-mir-26a-1	3	21199804
hsa-miR-26a-1*	hsa-mir-26a-1	3	18713946
hsa-miR-26a-1*	hsa-mir-26a-1	3	20952513
hsa-miR-26a-2*	hsa-mir-26a-2	12	21199804
hsa-miR-26a-2*	hsa-mir-26a-2	12	21199804
hsa-miR-26b	hsa-mir-26b	2	21199804
hsa-miR-26b	hsa-mir-26b	2	21199804
hsa-miR-26b*	hsa-mir-26b	2	21199804
hsa-miR-26b*	hsa-mir-26b	2	21199804
hsa-miR-29c	hsa-mir-29c	1	20444294
hsa-miR-29c	hsa-mir-29c	1	20444294
hsa-miR-29c*	hsa-mir-29c	1	20444294
hsa-miR-29c*	hsa-mir-29c	1	20444294
hsa-miR-320a	hsa-mir-320a	8	18852463
hsa-miR-320a	hsa-mir-320a	8	18852463
hsa-miR-320b	hsa-mir-320b-1	1	18852463
hsa-miR-320b	hsa-mir-320b-2	1	18852463
hsa-miR-320b	hsa-mir-320b-1	1	18852463
hsa-miR-320b	hsa-mir-320b-2	1	18852463
hsa-miR-320c	hsa-mir-320c-1	18	18852463
hsa-miR-320c	hsa-mir-320c-2	18	18852463
hsa-miR-320c	hsa-mir-320c-1	18	18852463
hsa-miR-320c	hsa-mir-320c-2	18	18852463
hsa-miR-320d	hsa-mir-320d-1	13	18852463
hsa-miR-320d	hsa-mir-320d-2	X	18852463
hsa-miR-320d	hsa-mir-320d-1	13	18852463
hsa-miR-320d	hsa-mir-320d-2	X	18852463
hsa-miR-34a	hsa-mir-34a	1	14697198
hsa-miR-34a	hsa-mir-34a	1	14697198
hsa-miR-34a*	hsa-mir-34a	1	14697198
hsa-miR-34a*	hsa-mir-34a	1	14697198
hsa-miR-574-5p	hsa-mir-574	4	21363966
hsa-miR-574-5p	hsa-mir-574	4	21363966
hsa-miR-720	hsa-mir-720	3	21363966
hsa-miR-720	hsa-mir-720	3	21363966
hsa-miR-98	hsa-mir-98	X	21368858
hsa-miR-98	hsa-mir-98	X	21368858

ID in Tarbase	Data Type	Support Type	miRNA	Gene	Direct Support	Publication
223	mRNA repression	TRUE	miR-101	EZH2 / Enx-1	in vitro reporter gene assay (Luciferase)	14697198
574	mRNA repression	TRUE	miR-26a	Ezh2	Luciferase assay - mutant MRE	18281287
Ensembl	Protein Type	Differentially expressed in	Pathology or Event	Mis Regulation	Gene Expression	Tumour Involvement
ENSG00000106462		n_a	n_a	n_a	"epithelium, lymphoblast, lymphocyte, muscle cell"	"benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000106462		n_a	n_a	n_a	"epithelium, lymphoblast, lymphocyte, muscle cell"	"benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"

Cis-Nats regulation

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Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Annotation Detail for EZH2

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics