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EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit [ Homo sapiens (human) ]

Gene ID: 2146, updated on 25-Jan-2015
Official Symbol
EZH2provided by HGNC
Official Full Name
enhancer of zeste 2 polycomb repressive complex 2 subunitprovided by HGNC
Primary source
HGNC:HGNC:3527
See related
Ensembl:ENSG00000106462; HPRD:03342; MIM:601573; Vega:OTTHUMG00000158973
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WVS; ENX1; EZH1; KMT6; WVS2; ENX-1; EZH2b; KMT6A
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 with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
Orthologs
See EZH2 in MapViewer
Location:
7q35-q36
Exon count:
23
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (148807372..148884349, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (148504464..148581441, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene acyl-CoA thioesterase 13 pseudogene Neighboring gene cullin 1 Neighboring gene RNA, U7 small nuclear 20 pseudogene Neighboring gene RNA, Ro-associated Y5 Neighboring gene RNA, Ro-associated Y4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Replication interactions

Interaction Pubs
Screening in Jurkat T-cells with a short-hairpin-RNA (shRNA) library identifies enhancer of zeste homolog 2 (EZH2) is important for HIV-1 replication PubMed

Go to the HIV-1, Human Interaction Database

  • Cellular Senescence, organism-specific biosystem (from REACTOME)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Epigenetic regulation of gene expression, organism-specific biosystem (from REACTOME)
    Epigenetic regulation of gene expression, organism-specific biosystemEpigenetic processes regulate gene expression by modulating the frequency, rate, or extent of gene expression in a mitotically or meiotically heritable way that does not entail a change in the DNA se...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
    MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • MicroRNAs in cancer, conserved biosystem (from KEGG)
    MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • Oxidative Stress Induced Senescence, organism-specific biosystem (from REACTOME)
    Oxidative Stress Induced Senescence, organism-specific biosystemOxidative stress, caused by increased concentration of reactive oxygen species (ROS) in the cell, can happen as a consequence of mitochondrial dysfunction induced by the oncogenic RAS (Moiseeva et al...
  • PRC2 methylates histones and DNA, organism-specific biosystem (from REACTOME)
    PRC2 methylates histones and DNA, organism-specific biosystemPolycomb group proteins are responsible for the heritable repression of genes during development (Lee et al. 2006, Ku et al. 2008, reviewed in Simon and Kingston 2009, Margueron and Reinberg 2011, Di...
  • miRs in Muscle Cell Differentiation, organism-specific biosystem (from WikiPathways)
    miRs in Muscle Cell Differentiation, organism-specific biosystem
    miRs in Muscle Cell Differentiation
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC9169

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
RNA binding IEA
Inferred from Electronic Annotation
more info
 
chromatin DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
core promoter binding ISS
Inferred from Sequence or Structural Similarity
more info
 
histone methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
histone methyltransferase activity (H3-K27 specific) TAS
Traceable Author Statement
more info
PubMed 
histone-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-lysine N-methyltransferase activity TAS
Traceable Author Statement
more info
 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA methylation IEA
Inferred from Electronic Annotation
more info
 
G1 to G0 transition IEA
Inferred from Electronic Annotation
more info
 
cellular response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
cerebellar cortex development IEA
Inferred from Electronic Annotation
more info
 
chromatin organization TAS
Traceable Author Statement
more info
PubMed 
gene expression TAS
Traceable Author Statement
more info
 
histone H3-K27 methylation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epidermal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression, epigenetic IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of gene expression, epigenetic TAS
Traceable Author Statement
more info
 
negative regulation of retinoic acid receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of striated muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription elongation from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of Ras GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to chromatin IEA
Inferred from Electronic Annotation
more info
 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of circadian rhythm IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of gene expression, epigenetic TAS
Traceable Author Statement
more info
 
regulation of gliogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
rhythmic process IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ESC/E(Z) complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
pronucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
histone-lysine N-methyltransferase EZH2
Names
histone-lysine N-methyltransferase EZH2
enhancer of zeste homolog 2
lysine N-methyltransferase 6
NP_001190176.1
NP_001190177.1
NP_001190178.1
NP_004447.2
NP_694543.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032043.1 

    Range
    5001..81978
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_531

mRNA and Protein(s)

  1. NM_001203247.1NP_001190176.1  histone-lysine N-methyltransferase EZH2 isoform c

    See proteins identical to NP_001190176.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame segment in the coding region, as compared to variant 1. The resulting isoform (c) lacks one internal segment, as compared to isoform a.
    Source sequence(s)
    BC010858, BU953788, CN283479, U61145
    Consensus CDS
    CCDS56516.1
    UniProtKB/Swiss-Prot
    Q15910
    Related
    ENSP00000419711, OTTHUMP00000213780, ENST00000460911, OTTHUMT00000352744
    Conserved Domains (2) summary
    pfam11616
    Location:3968
    EZH2_WD-Binding; WD repeat binding protein EZH2
    smart00317
    Location:612733
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  2. NM_001203248.1NP_001190177.1  histone-lysine N-methyltransferase EZH2 isoform d

    See proteins identical to NP_001190177.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two in-frame segments in the coding region, as compared to variant 1. The resulting isoform (d) lacks two internal segments, as compared to isoform a.
    Source sequence(s)
    AK293239, BC010858, BU953788, CN283479
    Consensus CDS
    CCDS56518.1
    UniProtKB/Swiss-Prot
    Q15910
    Related
    ENSP00000419856, OTTHUMP00000213774, ENST00000483967, OTTHUMT00000352737
    Conserved Domains (2) summary
    pfam11616
    Location:3968
    EZH2_WD-Binding; WD repeat binding protein EZH2
    smart00317
    Location:603724
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  3. NM_001203249.1NP_001190178.1  histone-lysine N-methyltransferase EZH2 isoform e

    See proteins identical to NP_001190178.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate 5' UTR exon and lacks an in-frame exon and two in-frame segments in the coding region, as compared to variant 1. The resulting isoform (e) lacks three internal segments, as compared to isoform a.
    Source sequence(s)
    AK302216, BC010858, BU953788
    Consensus CDS
    CCDS56517.1
    UniProtKB/Swiss-Prot
    Q15910
    Related
    ENSP00000419050, OTTHUMP00000213779, ENST00000476773, OTTHUMT00000352743
    Conserved Domains (2) summary
    pfam11616
    Location:3968
    EZH2_WD-Binding; WD repeat binding protein EZH2
    smart00317
    Location:561682
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  4. NM_004456.4NP_004447.2  histone-lysine N-methyltransferase EZH2 isoform a

    See proteins identical to NP_004447.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    BC010858, BU953788, CN283479
    Consensus CDS
    CCDS5891.1
    UniProtKB/TrEMBL
    A0A090N8E9
    UniProtKB/Swiss-Prot
    Q15910
    Related
    ENSP00000320147, OTTHUMP00000213776, ENST00000320356, OTTHUMT00000352740
    Conserved Domains (2) summary
    pfam11616
    Location:3968
    EZH2_WD-Binding; WD repeat binding protein EZH2
    smart00317
    Location:617738
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  5. NM_152998.2NP_694543.1  histone-lysine N-methyltransferase EZH2 isoform b

    See proteins identical to NP_694543.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon and an in-frame segment in the coding region, as compared to variant 1. The resulting isoform (b) lacks two internal segments, as compared to isoform a.
    Source sequence(s)
    AK314291, BC010858, BU953788, CN283479
    Consensus CDS
    CCDS5892.1
    UniProtKB/Swiss-Prot
    Q15910
    UniProtKB/TrEMBL
    S4S3R8
    Related
    ENSP00000223193, OTTHUMP00000214051, ENST00000350995, OTTHUMT00000353255
    Conserved Domains (2) summary
    pfam11616
    Location:3968
    EZH2_WD-Binding; WD repeat binding protein EZH2
    smart00317
    Location:573694
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    148807372..148884349
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715884.1XP_006715947.1  

    See proteins identical to XP_006715947.1

    Conserved Domains (1) summary
    smart00317
    Location:604725
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  2. XM_006715885.1XP_006715948.1  

    See proteins identical to XP_006715948.1

    UniProtKB/Swiss-Prot
    Q15910
    Conserved Domains (2) summary
    pfam11616
    Location:3968
    EZH2_WD-Binding; WD repeat binding protein EZH2
    smart00317
    Location:603724
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  3. XM_006715883.1XP_006715946.1  

    See proteins identical to XP_006715946.1

    UniProtKB/Swiss-Prot
    Q15910
    Conserved Domains (2) summary
    pfam11616
    Location:3968
    EZH2_WD-Binding; WD repeat binding protein EZH2
    smart00317
    Location:612733
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  4. XM_006715887.1XP_006715950.1  

    See proteins identical to XP_006715950.1

    Conserved Domains (2) summary
    pfam11616
    Location:4776
    EZH2_WD-Binding; WD repeat binding protein EZH2
    smart00317
    Location:578699
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  5. XM_005249962.2XP_005250019.1  

    See proteins identical to XP_005250019.1

    Conserved Domains (2) summary
    pfam11616
    Location:4776
    EZH2_WD-Binding; WD repeat binding protein EZH2
    smart00317
    Location:620741
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  6. XM_005249964.2XP_005250021.1  

    See proteins identical to XP_005250021.1

    Conserved Domains (2) summary
    pfam11616
    Location:4776
    EZH2_WD-Binding; WD repeat binding protein EZH2
    smart00317
    Location:569690
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  7. XM_005249963.2XP_005250020.1  

    See proteins identical to XP_005250020.1

    Conserved Domains (2) summary
    pfam11616
    Location:4776
    EZH2_WD-Binding; WD repeat binding protein EZH2
    smart00317
    Location:611732
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  8. XM_006715886.1XP_006715949.1  

    See proteins identical to XP_006715949.1

    Conserved Domains (1) summary
    smart00317
    Location:590711
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    148512861..148589845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    142583460..142659958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)