Gene Gene information from NCBI Gene database.
Entrez ID 2146
Gene name Enhancer of zeste 2 polycomb repressive complex 2 subunit
Gene symbol EZH2
Synonyms (NCBI Gene)
ENX-1ENX1EZH2bKMT6KMT6AWVSWVS2
Chromosome 7
Chromosome location 7q36.1
Summary This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates
SNPs SNP information provided by dbSNP.
31
SNP ID Visualize variation Clinical significance Consequence
rs193921147 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs193921148 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs199645805 G>C Conflicting-interpretations-of-pathogenicity Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs267601394 T>A,G Likely-pathogenic Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs267601395 A>G,T Likely-pathogenic Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
268
miRTarBase ID miRNA Experiments Reference
MIRT001771 hsa-miR-26a-5p Luciferase reporter assayWestern blot 18713946
MIRT001771 hsa-miR-26a-5p Luciferase reporter assayWestern blot 18713946
MIRT000381 hsa-miR-101-3p Luciferase reporter assay 19625769
MIRT000381 hsa-miR-101-3p Luciferase reporter assay 19043531
MIRT001771 hsa-miR-26a-5p Luciferase reporter assay 18713946
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
CREBBP Unknown 25088689
ELK1 Activation 22222375
EP300 Unknown 25088689
FOSL1 Unknown 23116973
JUN Unknown 23116973
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
115
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 20154697
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000781 Component Chromosome, telomeric region IGI 9214638
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601573 3527 ENSG00000106462
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15910
Protein name Histone-lysine N-methyltransferase EZH2 (EC 2.1.1.356) (ENX-1) (Enhancer of zeste homolog 2) (Lysine N-methyltransferase 6)
Protein function Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trime
PDB 4MI0 , 4MI5 , 5GSA , 5H14 , 5H15 , 5H17 , 5H19 , 5H24 , 5H25 , 5HYN , 5IJ7 , 5IJ8 , 5LS6 , 5U5T , 5U62 , 5WG6 , 5WUK , 6C23 , 6C24 , 6LO2 , 6P5L , 6U4Y , 6WKR , 7AT8 , 7QJG , 7QJU , 7QK4 , 8EQV , 8FYH , 8T9G , 8TAS , 8TB9 , 8VMI , 8VML , 8VNV , 8VNZ , 9C8U , 9DCH
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_1 158 249 Polycomb repressive complex 2 tri-helical domain Domain
PF18264 preSET_CXC 559 590 CXC domain Domain
PF00856 SET 623 727 SET domain Family
Tissue specificity TISSUE SPECIFICITY: In the ovary, expressed in primordial follicles and oocytes and also in external follicle cells (at protein level) (PubMed:31451685). Expressed in many tissues (PubMed:14532106). Overexpressed in numerous tumor types including carcinom
Sequence
MGQTGKKSEKGPVCWRKRVKSEYMRLRQLKRFRRADEVKSMFSSNRQKILERTEILNQEW
KQRRIQPV
HILTSVSSLRGTRECSVTSDLDFPTQVIPLKTLNAVASVPIMYSWSPLQQNF
MVEDETVLHNIPYMGDEVLDQDGTFIEELIKNYDGKVHGDRECGFINDEIFVELVNALGQ
YNDDDDDDDGDDPEEREEKQKDLEDHRDDKESRPPRKFPSDKIFEAISSMFPDKGTAEEL
KEKYKELTE
QQLPGALPPECTPNIDGPNAKSVQREQSLHSFHTLFCRRCFKYDCFLHPFH
ATPNTYKRKNTETALDNKPCGPQCYQHLEGAKEFAAALTAERIKTPPKRPGGRRRGRLPN
NSSRPSTPTINVLESKDTDSDREAGTETGGENNDKEEEEKKDETSSSSEANSRCQTPIKM
KPNIEPPENVEWSGAEASMFRVLIGTYYDNFCAIARLIGTKTCRQVYEFRVKESSIIAPA
PAEDVDTPPRKKKRKHRLWAAHCRKIQLKKDGSSNHVYNYQPCDHPRQPCDSSCPCVIAQ
NFCEKFCQCSSECQNRFPGCRCKAQCNTKQCPCYLAVRECDPDLCLTCGAADHWDSKNVS
CKNCSIQRGSKKHLLLAPSDVAGWGIFIKDPVQKNEFISEYCGEIISQDEADRRGKVYDK
YMCSFLFNLNNDFVVDATRKGNKIRFANHSVNPNCYAKVMMVNGDHRIGIFAKRAIQTGE
ELFFDYR
YSQADALKYVGIEREMEIP
Sequence length 746
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Lysine degradation
Metabolic pathways
Polycomb repressive complex
MicroRNAs in cancer
  PRC2 methylates histones and DNA
Oxidative Stress Induced Senescence
PKMTs methylate histone lysines
Regulation of PTEN gene transcription
Transcriptional Regulation by E2F6
HCMV Early Events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
515
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Childhood neoplasm Likely pathogenic rs2536397734 RCV003326286
EZH2-related disorder Pathogenic; Likely pathogenic rs587783626, rs587783625, rs2537032583, rs397515548 RCV004734701
RCV001249312
RCV004534416
RCV004537252
Hereditary cancer-predisposing syndrome Likely pathogenic rs2536397734 RCV003326286
Medulloblastoma SHH activated and TP53 wild-type Likely pathogenic rs1554486390 RCV006254077
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign; - rs41277434, rs758924977, rs2536271511 RCV005890802
RCV005934718
RCV005936629
Adrenocortical carcinoma, hereditary Uncertain significance rs760495918 RCV005912464
Cervical cancer Likely benign rs73471821 RCV005917447
Cholangiocarcinoma Benign rs41277434 RCV005890813
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Associate 27764181
Acquired Immunodeficiency Syndrome Stimulate 36195655
Acute Lung Injury Associate 36552722
Adenocarcinoma Associate 24097870, 28539837, 30458017, 35245884, 36037134
Adenocarcinoma Inhibit 28539837
Adenocarcinoma Follicular Associate 32093341
Adenocarcinoma in Situ Associate 30903272
Adenocarcinoma of Lung Associate 24097870, 24859971, 25800736, 28214878, 28539837, 31042721, 31180543, 31773700, 35245884, 36050791, 36629984, 36670102, 37069494, 37269912, 37992808
Adenoma Associate 34967593
Adenoma Pleomorphic Associate 38477804