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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EZH2 Gene

protein-coding   GIFtS: 70
GCID: GC07M148504

Enhancer Of Zeste Homolog 2 (Drosophila)

(Previous name: enhancer of zeste (Drosophila) homolog 2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Enhancer Of Zeste Homolog 2 (Drosophila)1 2     EZH2b2
Lysine N-Methyltransferase 62 3     KMT6A2
ENX-12 3     WVS2
KMT62 3     WVS22
EC 2.1.1.433 8     Histone-Lysine N-Methyltransferase EZH22
EZH12 5     Enhancer Of Zeste Homolog 23
Enhancer Of Zeste (Drosophila) Homolog 21     EC 2.1.18
ENX12     

External Ids:    HGNC: 35271   Entrez Gene: 21462   Ensembl: ENSG000001064627   OMIM: 6015735   UniProtKB: Q159103   

Export aliases for EZH2 gene to outside databases

Previous GC identifers: GC07M146751 GC07M147819 GC07M147896 GC07M147942 GC07M148135 GC07M142583


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EZH2 Gene:
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)

GeneCards Summary for EZH2 Gene: 
EZH2 (enhancer of zeste homolog 2 (Drosophila)) is a protein-coding gene. Diseases associated with EZH2 include weaver syndrome, and weaver syndrome 2, and among its related super-pathways are Signal transduction Activin A signaling regulation. GO annotations related to this gene include core promoter binding and sequence-specific DNA binding. An important paralog of this gene is NSD1.

UniProtKB/Swiss-Prot: EZH2_HUMAN, Q15910
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 trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively.
Compared to EZH2-containing complexes, it is more abundant in embryonic stem cells and plays a major role in
forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. The
PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two
epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1, CDKN2A
and retinoic acid target genes. EZH2 can also methylate non-histone proteins such as the transcription factor
GATA4

Gene Wiki entry for EZH2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007914.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EZH2 gene promoter:
         E2F-4   E2F-3a   E2F-5   MyoD   E2F-2   GATA-1   E2F-1   E2F   POU2F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EZH2 promoter sequence
   Search SABiosciences Chromatin IP Primers for EZH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EZH2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q35-q36   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q35-q36

EZH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EZH2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M148504:  view genomic region     (about GC identifiers)

Start:
148,504,464 bp from pter      End:
148,581,441 bp from pter
Size:
76,978 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 147,842,417-147,919,393     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EZH2_HUMAN, Q15910 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase EZH2  
Size: 746 amino acids; 85363 Da
Subunit: Binds ATRX via the SET domain (Probable). Component of the PRC2/EED-EZH2 complex, which includes EED,
EZH2, SUZ12, RBBP4 and RBBP7 and possibly AEBP2. The minimum components required for methyltransferase activity
of the PRC2/EED-EZH2 complex are EED, EZH2 and SUZ12. The PRC2 complex may also interact with DNMT1, DNMT3A,
DNMT3B and PHF1 via the EZH2 subunit and with SIRT1 via the SUZ12 subunit. Interacts with HDAC1 and HDAC2.
Interacts with PRAME
Subcellular location: Nucleus
Developmental stage: Expression decreases during senescence of embryonic fibroblasts (HEFs). Expression peaks at
the G1/S phase boundary
Caution: Two variants of the PRC2 complex have been described, termed PRC3 and PRC4. Each of the three complexes
may include a different complement of EED isoforms, although the precise sequences of the isoforms in each
complex have not been determined. The PRC2 and PRC4 complexes may also methylate 'Lys-26' of histone H1 in
addition to 'Lys-27' of histone H3 (PubMed:15099518 and PubMed:15684044), although other studies have
demonstrated no methylation of 'Lys-26' of histone H1 by PRC2 (PubMed:16431907)
Sequence caution: Sequence=AAS07448.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for EZH2:
2C6V (3D)    
Secondary accessions: B2RAQ1 B3KS30 B7Z1D6 B7Z7L6 Q15755 Q75MG3 Q92857 Q96FI6
Alternative splicing: 5 isoforms:  Q15910-1   Q15910-2   Q15910-3   Q15910-4   Q15910-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EZH2: NX_Q15910

Explore proteomics data for EZH2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by AKT1. Phosphorylation by AKT1 reduces methyltransferase activity. Phosphorylation at Thr-345 by
    CDK1 and CDK2 promotes maintenance of H3K27me3 levels at EZH2-target loci, thus leading to epigenetic gene
    silencing
  • UniProtKB: Sumoylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15910

  • 4/28 DME Specific Peptides for EZH2 (Q15910) (see all 28)
     SFLFNLN  TFIEELI  TPPRKKK  PNCYAKV 

    EZH2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EZH2 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001190176.1  NP_001190177.1  NP_001190178.1  NP_004447.2  NP_694543.1  

    ENSEMBL proteins: 
     ENSP00000417377   ENSP00000417062   ENSP00000419711   ENSP00000223193   ENSP00000320147  
     ENSP00000419050   ENSP00000419856   ENSP00000417704   ENSP00000443219   ENSP00000439305  

    Human Recombinant Protein Products for EZH2: 
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    Novus Biologicals EZH2 Proteins
    Novus Biologicals EZH2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EZH2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0035098ESC/E(Z) complex IDA15385962
    GO:0045120pronucleus IEA--

    EZH2 for ontologies           About GeneDecksing



    EZH2 Antibody Products: 
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    Assay Products for EZH2: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KMT: Chromatin-modifying enzymes / K-methyltransferases

    4 InterPro protein domains:
     IPR001214 SET_dom
     IPR001005 SANT/Myb
     IPR021654 EZH2_WD-Binding
     IPR026489 CXC_dom

    Graphical View of Domain Structure for InterPro Entry Q15910

    ProtoNet protein and cluster: Q15910

    1 Blocks protein domain: IPB001214 Nuclear protein SET

    UniProtKB/Swiss-Prot: EZH2_HUMAN, Q15910
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine
    methyltransferase family. EZ subfamily
    Similarity: Contains 1 CXC domain
    Similarity: Contains 1 SET domain


    EZH2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EZH2_HUMAN, Q15910
    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 trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively.
    Compared to EZH2-containing complexes, it is more abundant in embryonic stem cells and plays a major role in
    forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. The
    PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two
    epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1, CDKN2A
    and retinoic acid target genes. EZH2 can also methylate non-histone proteins such as the transcription factor
    GATA4
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]
    Induction: Expression is induced by E2F1, E2F2 and E2F3. Expression is reduced in cells subject to numerous types
    of stress including UV-, IR- and bleomycin-induced DNA damage and by activation of p53/TP53

         Genatlas biochemistry entry for EZH2:
    Drosophila enhancer of zeste homolog 2,polycomb group,PcG

         Enzyme Numbers (IUBMB): EC 2.1.1.431 2 EC 2.1.12

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001047core promoter binding IEA--
    GO:0003677DNA binding TAS8954776
    GO:0003682chromatin binding IDA--
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI16179254
         
    EZH2 for ontologies           About GeneDecksing


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Ezh2):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size 
     hematopoietic system  immune system  integument  mortality/aging  muscle 
     nervous system  no phenotypic analysis  normal  tumorigenesis 

    EZH2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EZH2: Ezh2tm1.1Tara Ezh2tm1.1Sho Ezh2tm1Jnw Ezh2tm2.1Sho

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EZH2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EZH2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EZH2 

    miRNA
    Products:
        
    miRTarBase miRNAs that target EZH2:
    hsa-mir-199a-5p (MIRT003809), hsa-mir-26a (MIRT001771), hsa-mir-101 (MIRT000381), hsa-mir-98 (MIRT005721), hsa-mir-217 (MIRT004010), hsa-mir-214 (MIRT000148)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EZH2
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate EZH2 (see all 24):
    hsa-miR-3910 hsa-miR-137 hsa-let-7d hsa-miR-4299 hsa-let-7c hsa-miR-1297 hsa-let-7g hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidEZH2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EZH2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EZH2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signal transduction Activin A signaling regulation
    Histone modification0.31
    2miRs in Muscle Cell Differentiation
    miRs in Muscle Cell Differentiation
    3Selected targets of p53
    Selected targets of p53
    4MicroRNAs in cancer
    MicroRNAs in cancer
    5Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for EZH2
        Histone modification
    Selected targets of p53


    1 Cell Signaling Technology (CST) Pathway for EZH2
        Chromatin Regulation / Acetylation

    2 BioSystems Pathways for EZH2
        Integrated Pancreatic Cancer Pathway
    miRs in Muscle Cell Differentiation



    1         Kegg Pathway  (Kegg details for EZH2):
        MicroRNAs in cancer


    EZH2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EZH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/178 Interacting proteins for EZH2 (Q159101, 2, 3 ENSP000003201474) via UniProtKB, MINT, STRING, and/or I2D (see all 178)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA--
    GO:0001932regulation of protein phosphorylation ----
    GO:0006325chromatin organization TAS8921387
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent TAS8921387

    EZH2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EZH2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for EZH2

    3 HMDB Compounds for EZH2    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    3 Novoseek inferred chemical compound relationships for EZH2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    s-adenosylhomocysteine 29.4 1 19638619 (1), 19934320 (1)
    retinoic acid 0 1 19578722 (1)
    vegf 0 6 16447267 (4), 16998811 (2)

    Search CenterWatch for drugs/clinical trials and news about EZH2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EZH2 gene (5 alternative transcripts): 
    NM_001203247.1  NM_001203248.1  NM_001203249.1  NM_004456.4  NM_152998.2  

    Unigene Cluster for EZH2:

    Enhancer of zeste homolog 2 (Drosophila)
    Hs.444082  [show with all ESTs]
    Unigene Representative Sequence: NM_004456
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000492143(uc022aov.1 uc003wfd.2 uc003wfc.2 uc011kuh.2 uc011kui.2)
    ENST00000478654 ENST00000460911 ENST00000350995 ENST00000320356(uc003wfb.2)
    ENST00000476773(uc011kug.2) ENST00000483967 ENST00000469631 ENST00000498186
    ENST00000483012 ENST00000541220 ENST00000536783(uc011kuj.2)
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EZH2

    Additional mRNA sequence: 

    AK092676.1 AK293239.1 AK302216.1 AK314291.1 AY519465.1 BC010858.2 JF327843.1 U61145.1 
    X95653.1 

    19 DOTS entries:

    DT.100790710  DT.448498  DT.121644086  DT.40191870  DT.428670  DT.91757146  DT.117781  DT.40107008 
    DT.99993052  DT.40212211  DT.100790711  DT.100790714  DT.95275701  DT.95275707  DT.40116419  DT.40277506 
    DT.91757139  DT.91821392  DT.99955129 

    24/250 AceView cDNA sequences (see all 250):

    BM765186 BU182471 BU508767 Z44716 AW068982 BM743872 BQ649256 AA430744 
    BM765399 AL044975 AL704582 BQ653044 CR604099 CA429065 BU184475 AY519465 
    BE729850 BM792649 AU124471 BX462271 BM769460 AI953668 BU189096 NM_152998 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EZH2 expression in normal human tissues (normalized intensities)      EZH2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTTTGAAA
    EZH2 Expression
    About this image


    EZH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Uterus
             uterus, pre-menopause ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   

    See EZH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EZH2

    SOURCE GeneReport for Unigene cluster: Hs.444082

    UniProtKB/Swiss-Prot: EZH2_HUMAN, Q15910
    Tissue specificity: Expressed in many tissues. Overexpressed in numerous tumor types including carcinomas of the
    breast, colon, larynx, lymphoma and testis

        SABiosciences Expression via Pathway-Focused PCR Arrays including EZH2: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
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              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EZH2 gene from 9/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ezh21 , 5 enhancer of zeste homolog 2 (Drosophila)1, 5 92.45(n)1
    98.25(a)1
      6 (22.92 cM)5
    140561  NM_001146689.11  NP_001140161.11 
     475302745 
    chicken
    (Gallus gallus)
    Aves EZH21 enhancer of zeste homolog 2 (Drosophila) 85.57(n)
    96.78(a)
      420784  XM_418879.3  XP_418879.3 
    lizard
    (Anolis carolinensis)
    Reptilia EZH26
    Uncharacterized protein
    92(a)
    1 ↔ 1
    6(53336734-53412297)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.191362 Xenopus laevis enhancer of zeste mRNA, complete cds 78.66(n)    AF351126.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.37882 Transcribed sequence with moderate similarity to protein more 75.17(n)    BI704424.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta E(z)1 , 3 negative regulation of transcription by
    homeotic more3
    Enhancer of zeste1
    50(a)3
    58.86(n)1
    62.36(a)1
      3 67E53
    392031  NM_001144460.21  NP_001137932.11 
    worm
    (Caenorhabditis elegans)
    Secernentea mes-26
    set-116
    (see all 3)
    Protein SET-11
    (see all 3)
    24(a)
    17(a)
    (see all 3)
    1 ↔ many
    possible ortholog
    (see all 3)
    II(14383976-14388490)
    II(2690472-2694311)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SET26
    Histone methyltransferase with a role in transcrip...
    8(a)
    1 → many
    X(102227-104428)
    rice
    (Oryza sativa)
    Liliopsida Os.446862 Oryza sativa (japonica cultivar-group) putative curly more 70.58(n)    NM_185801.1 


    ENSEMBL Gene Tree for EZH2 (if available)
    TreeFam Gene Tree for EZH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EZH2 gene
    NSD12  EZH12  ASH1L2  WHSC12  WHSC1L12  SUV39H22  SETBP12  SUV39H12  
    SETD22  EHMT12  EHMT22  
    3 SIMAP similar genes for EZH2 using alignment to 9 protein entries:     EZH2_HUMAN (see all proteins):
    EZH1    SUV39H2    DKFZp686C08112

    EZH2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for EZH2
    PGOHUM00000239072


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1747 SNPs in EZH2 are shown (see all 1747)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0675974
    Weaver syndrome (WVS)4--see VAR_0675972 H Y mis40--------
    VAR_0675954
    Weaver syndrome (WVS)4--see VAR_0675952 P S mis40--------
    VAR_0672334
    A patient with chronic myelomonocytic leukemia4--see VAR_0672332 R H mis40--------
    VAR_0672284
    A patient with diffuse large B-cell lymphoma4--see VAR_0672282 Y C mis40--------
    VAR_0672314
    ----see VAR_0672312 Y N mis40--------
    VAR_0672294
    ----see VAR_0672292 Y F mis40--------
    VAR_0672324
    ----see VAR_0672322 Y S mis40--------
    VAR_0672304
    ----see VAR_0672302 Y H mis40--------
    rs113872091,2
    C--147908912(+) AAAAA-/AA/   
       C
    /GAC
    AAAAG
    10 -- int1 cds1 trp30--------
    rs558776181,2
    C,F--148504854(+) GACTTGACTT/
            
    AACAC
    5 -- int12Minor allele frequency- -:0.50NA CSA 4

    HapMap Linkage Disequilibrium report for EZH2 (148504464 - 148581441 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for EZH2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1004063CNV Insertion20482838
    nsv522305CNV Loss19592680
    nsv831183CNV Loss17160897
    esv259894OTHER Complex20981092
    esv259486OTHER Complex20981092


    Human Gene Mutation Database (HGMD): EZH2

    Locus Specific Mutation Databases (LSDB): EZH2
    5/11 SABiosciences Cancer Mutation PCR Assays for EZH2 (see all 11):
    Cosmic IdAA Change
    37030p.Y646H
    53005p.R684C
    49149p.E249K
    37032p.Y646C
    37031p.Y646N
    5/6 SABiosciences Cancer Mutation PCR Arrays containing EZH2 (see all 6):
    Oncogene and Tumor Suppressor Panel 384HT
    Lymphoid Neoplasms
    Lung and Colon Cancers (Expanded Panel) 384HT
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    1 SABiosciences qBiomarker Copy Number PCR Array containing EZH2:
    Oncogenes & Tumor Suppressor Genes 384HC
    SeqTarget long-range PCR primers for resequencing EZH2
    DNA2.0 Custom Variant and Variant Library Synthesis for EZH2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601573    OMIM disorders: --

    UniProtKB/Swiss-Prot: EZH2_HUMAN, Q15910
  • Weaver syndrome (WVS) [MIM:277590]: A syndrome of accelerated growth and osseous maturation, unusual
    craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features
    of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia,
    deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest
    of the hand. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/76 diseases for EZH2 (see all 76):    About MalaCards
    weaver syndrome    weaver syndrome 2    chronic myelomonocytic leukemia    central nervous system lymphoma
    bladder carcinoma    blastoma    rhabdoid tumor    adenoid cystic carcinoma
    oral leukoplakia    neuroendocrine carcinoma    non-hodgkin lymphoma    adenoiditis
    soft tissue sarcoma    hodgkin's lymphoma    keratitis    follicular lymphoma
    myelofibrosis    mantle cell lymphoma    leukoplakia    prostate cancer, progression of

    2 diseases from the University of Copenhagen DISEASES database for EZH2:
    Prostate cancer     Leukemia

    EZH2 for disorders           About GeneDecksing

    10/29 Novoseek inferred disease relationships for EZH2 gene (see all 29)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostate cancer 65.8 93 18095286 (9), 17252556 (6), 16575874 (5), 18159594 (5) (see all 29)
    aggressiveness 57.4 7 19904743 (2), 14500907 (1), 15184867 (1), 18806826 (1) (see all 6)
    lymphoma mantle-cell 56.5 1 11389032 (1)
    neoplastic transformation 55 5 14500907 (1), 20087897 (1), 19723877 (1)
    cancer 54.5 78 19285253 (4), 16330673 (4), 19008416 (4), 18430739 (4) (see all 40)
    tumors 49.9 109 16330673 (5), 17138155 (4), 17541304 (4), 19846140 (4) (see all 50)
    breast cancer 38.6 62 19079346 (5), 19969553 (5), 20385124 (4), 14500907 (3) (see all 22)
    metastasis 36 21 20132185 (2), 16998811 (1), 19904743 (1), 19079346 (1) (see all 14)
    bladder cancer 32.8 17 17138155 (4), 16361539 (4), 16215315 (3), 16012774 (2)
    metastatic cancer 30 2 16963837 (1), 17483039 (1)

    Genetic Association Database (GAD): EZH2
    Human Genome Epidemiology (HuGE) Navigator: EZH2 (8 documents)

    Export disorders for EZH2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EZH2 gene, integrated from 9 sources (see all 416):
    (articles sorted by number of sources associating them with EZH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2. (PubMed id 8954776)1, 2, 3, 9 Chen H.... Antonarakis S.E. (1996)
    2. Ezh2 requires PHF1 to efficiently catalyze H3 lysine 27 trimethylation in vivo. (PubMed id 18285464)1, 2, 9 Sarma K....Reinberg D. (2008)
    3. EZH2 is downstream of the pRB-E2F pathway, essential for proliferation and amplified in cancer. (PubMed id 14532106)1, 2, 9 Bracken A.P.... Helin K. (2003)
    4. Genetic polymorphisms in the polycomb group gene EZH2 and the risk of lung cancer. (PubMed id 19901851)1, 4, 9 Yoon K.A....Lee J.S. (2010)
    5. Activated p53 suppresses the histone methyltransferase EZH2 gene. (PubMed id 15208672)1, 2, 9 Tang X....Rotter V. (2004)
    6. Histone deacetylase inhibitors deplete enhancer of zeste 2 and associated polycomb repressive complex 2 proteins in human acute leukemia cells. (PubMed id 17172412)1, 3, 9 Fiskus W....Bhalla K. (2006)
    7. Akt-mediated phosphorylation of EZH2 suppresses methylation of lysine 27 in histone H3. (PubMed id 16224021)1, 2, 9 Cha T.-L.... Hung M.-C. (2005)
    8. Somatic mutations altering EZH2 (Tyr641) in follicula r and diffuse large B-cell lymphomas of germinal-center origin. (PubMed id 20081860)1, 2, 9 Morin R.D....Marra M.A. (2010)
    9. Mutation screen and association study of EZH2 as a susceptibility gene for aggressive prostate cancer. (PubMed id 16015586)1, 4, 9 Bachmann N....Maier C. (2005)
    10. Interaction of Vav with ENX-1, a putative transcriptional regulator of homeobox gene expression. (PubMed id 8649418)1, 2, 9 Hobert O.... Ullrich A. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2146 HGNC: 3527 AceView: EZH2 Ensembl:ENSG00000106462 euGenes: HUgn2146
    ECgene: EZH2 Kegg: 2146 H-InvDB: EZH2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EZH2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EZH2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EZH2 gene:
    Search GeneIP for patents involving EZH2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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