Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 2146, updated on 26-Jul-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 Epigenomics, MapViewer
    Location:
    7q35-q36
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105375558 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...
    • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
      Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
    • Chromatin organization, organism-specific biosystem (from REACTOME)
      Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
    • 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...
    • PKMTs methylate histone lysines, organism-specific biosystem (from REACTOME)
      PKMTs methylate histone lysines, organism-specific biosystemLysine methyltransferases (KMTs) and arginine methyltransferases (RMTs) have a common mechanism of catalysis. Both families transfer a methyl group from a common donor, S-adenosyl-L-methionine (SAM),...
    • 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 
    histone-lysine N-methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    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
     
    gene expression TAS
    Traceable Author Statement
    more info
     
    hippocampus development IEA
    Inferred from Electronic Annotation
    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 GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of dendrite development IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    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
    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 RefSeqGene

      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 identical proteins and their annotated locations for 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 identical proteins and their annotated locations for 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 identical proteins and their annotated locations for 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 identical proteins and their annotated locations for 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 identical proteins and their annotated locations for 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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011515887.1XP_011514189.1  

      See identical proteins and their annotated locations for XP_011514189.1

      Conserved Domains (2) summary
      pfam11616
      Location:3968
      EZH2_WD-Binding; WD repeat binding protein EZH2
      smart00317
      Location:608729
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    2. XM_011515891.1XP_011514193.1  

      Conserved Domains (1) summary
      smart00317
      Location:584705
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    3. XM_011515886.1XP_011514188.1  

      See identical proteins and their annotated locations for XP_011514188.1

      Conserved Domains (1) summary
      smart00317
      Location:609730
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    4. XM_011515897.1XP_011514199.1  

      See identical proteins and their annotated locations for XP_011514199.1

      Conserved Domains (1) summary
      smart00317
      Location:508629
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    5. XM_011515894.1XP_011514196.1  

      See identical proteins and their annotated locations for XP_011514196.1

      Conserved Domains (2) summary
      pfam11616
      Location:3968
      EZH2_WD-Binding; WD repeat binding protein EZH2
      smart00317
      Location:578699
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    6. XM_011515898.1XP_011514200.1  

      See identical proteins and their annotated locations for XP_011514200.1

      Conserved Domains (1) summary
      smart00317
      Location:508629
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    7. XM_011515883.1XP_011514185.1  

      See identical proteins and their annotated locations for XP_011514185.1

      Conserved Domains (2) summary
      pfam11616
      Location:4776
      EZH2_WD-Binding; WD repeat binding protein EZH2
      smart00317
      Location:625746
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    8. XM_011515888.1XP_011514190.1  

      See identical proteins and their annotated locations for XP_011514190.1

      Conserved Domains (2) summary
      pfam11616
      Location:3968
      EZH2_WD-Binding; WD repeat binding protein EZH2
      smart00317
      Location:608729
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    9. XM_011515884.1XP_011514186.1  

      See identical proteins and their annotated locations for XP_011514186.1

      UniProtKB/TrEMBL
      A0A090N8E9
      UniProtKB/Swiss-Prot
      Q15910
      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
    10. XM_011515895.1XP_011514197.1  

      Conserved Domains (2) summary
      pfam11616
      Location:4776
      EZH2_WD-Binding; WD repeat binding protein EZH2
      smart00317
      Location:577698
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    11. XM_005249964.3XP_005250021.1  

      See identical proteins and their annotated locations for 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
    12. XM_005249963.3XP_005250020.1  

      See identical proteins and their annotated locations for 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
    13. XM_011515885.1XP_011514187.1  

      Conserved Domains (2) summary
      pfam11616
      Location:4776
      EZH2_WD-Binding; WD repeat binding protein EZH2
      smart00317
      Location:616737
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    14. XM_011515896.1XP_011514198.1  

      See identical proteins and their annotated locations for XP_011514198.1

      Conserved Domains (2) summary
      pfam11616
      Location:4776
      EZH2_WD-Binding; WD repeat binding protein EZH2
      smart00317
      Location:539660
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    15. XM_011515893.1XP_011514195.1  

      See identical proteins and their annotated locations for XP_011514195.1

      Conserved Domains (2) summary
      pfam11616
      Location:4776
      EZH2_WD-Binding; WD repeat binding protein EZH2
      smart00317
      Location:581702
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    16. XM_011515890.1XP_011514192.1  

      Conserved Domains (2) summary
      pfam11616
      Location:4776
      EZH2_WD-Binding; WD repeat binding protein EZH2
      smart00317
      Location:586707
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    17. XM_005249962.3XP_005250019.1  

      See identical proteins and their annotated locations for 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
    18. XM_011515892.1XP_011514194.1  

      See identical proteins and their annotated locations for XP_011514194.1

      Conserved Domains (2) summary
      pfam11616
      Location:4776
      EZH2_WD-Binding; WD repeat binding protein EZH2
      smart00317
      Location:583704
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    19. XM_011515889.1XP_011514191.1  

      Conserved Domains (1) summary
      smart00317
      Location:595716
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    20. XM_011515901.1XP_011514203.1  

      See identical proteins and their annotated locations for XP_011514203.1

      Conserved Domains (1) summary
      pfam11616
      Location:4776
      EZH2_WD-Binding; WD repeat binding protein EZH2
    21. XM_011515900.1XP_011514202.1  

      See identical proteins and their annotated locations for XP_011514202.1

      Conserved Domains (1) summary
      pfam11616
      Location:4776
      EZH2_WD-Binding; WD repeat binding protein EZH2
    22. XM_011515899.1XP_011514201.1  

      Conserved Domains (1) summary
      pfam11616
      Location:4776
      EZH2_WD-Binding; WD repeat binding protein EZH2
    23. XM_011515902.1XP_011514204.1  

      Conserved Domains (1) summary
      pfam11616
      Location:4776
      EZH2_WD-Binding; WD repeat binding protein EZH2

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

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