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

    Gene ID: 2146, updated on 11-Apr-2024

    Summary

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    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 MIM:601573; AllianceGenome:HGNC:3527
    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; 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]
    Expression
    Broad expression in bone marrow (RPKM 9.3), testis (RPKM 8.6) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q36.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (148807383..148884291, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (149989157..150066070, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (148504475..148581383, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene acyl-CoA thioesterase 13 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:148388173-148388399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26800 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:148396297-148397022 Neighboring gene cullin 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:148469244-148470443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26801 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:148479522-148480224 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:148480425-148481624 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:148495129-148496328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:148504832-148505332 Neighboring gene RNA, U7 small nuclear 20 pseudogene Neighboring gene Sharpr-MPRA regulatory region 2848 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:148580637-148581328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18738 Neighboring gene uncharacterized LOC124901767 Neighboring gene RNA, 7SL, cytoplasmic 569, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. EZH2 mediated metabolic rewiring promotes tumor growth independently of histone methyltransferase activity in ovarian cancer. Chen J, et al. Mol Cancer, 2023 May 20. PMID 37210576, Free PMC Article
    2. EZH2 can be used as a therapeutic agent for inhibiting endothelial dysfunction. Sun L, et al. Biochem Pharmacol, 2023 Jul. PMID 37207700
    3. EZH2 regulates pancreatic cancer cells through E2F1, GLI1, CDK3, and Mcm4. Li H, et al. Hereditas, 2023 May 17. PMID 37198697, Free PMC Article
    4. Modulation of EZH2 Activity Induces an Antitumoral Effect and Cell Redifferentiation in Anaplastic Thyroid Cancer. de Mello DC, et al. Int J Mol Sci, 2023 Apr 26. PMID 37175580, Free PMC Article
    5. The roles of EZH2 in cancer and its inhibitors. Liu Y, et al. Med Oncol, 2023 May 6. PMID 37148376, Free PMC Article

    See all (1469) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EZH2-interacting lncRNAs contribute to gastric tumorigenesis; a review on the mechanisms of action.
      Title: EZH2-interacting lncRNAs contribute to gastric tumorigenesis; a review on the mechanisms of action.
    2. MAL expression downregulation through suppressive H3K27me3 marks at the promoter in HPV16-related cervical cancers is prognostically relevant and manifested by the interplay of novel MAL antisense long noncoding RNA AC103563.8, E7 oncoprotein and EZH2.
      Title: MAL expression downregulation through suppressive H3K27me3 marks at the promoter in HPV16-related cervical cancers is prognostically relevant and manifested by the interplay of novel MAL antisense long noncoding RNA AC103563.8, E7 oncoprotein and EZH2.
    3. EZH2-mediated development of therapeutic resistance in cancer.
      Title: EZH2-mediated development of therapeutic resistance in cancer.
    4. EZH2 immunoexpression in pleomorphic adenoma and adenoid cystic carcinoma and clinicopathological features.
      Title: EZH2 immunoexpression in pleomorphic adenoma and adenoid cystic carcinoma and clinicopathological features.
    5. DLEU2/EZH2/GFI1 Axis Regulates the Proliferation and Apoptosis of Human Bone Marrow Mesenchymal Stem Cells.
      Title: DLEU2/EZH2/GFI1 Axis Regulates the Proliferation and Apoptosis of Human Bone Marrow Mesenchymal Stem Cells.
    6. The competitive mechanism of EZH1 and EZH2 in promoting oral squamous cell carcinoma.
      Title: The competitive mechanism of EZH1 and EZH2 in promoting oral squamous cell carcinoma.
    7. Regulation of EZH2 protein stability: new mechanisms, roles in tumorigenesis, and roads to the clinic.
      Title: Regulation of EZH2 protein stability: new mechanisms, roles in tumorigenesis, and roads to the clinic.
    8. Comparative analysis of EZH2, p16 and p53 expression in uterine carcinosarcomas.
      Title: Comparative analysis of EZH2, p16 and p53 expression in uterine carcinosarcomas.
    9. Epigenetic vulnerabilities of leukemia harboring inactivating EZH2 mutations.
      Title: Epigenetic vulnerabilities of leukemia harboring inactivating EZH2 mutations.
    10. HOMER3 promotes liver hepatocellular carcinoma cancer progression by -upregulating EZH2 and mediating miR-361/GPNMB axis.
      Title: HOMER3 promotes liver hepatocellular carcinoma cancer progression by -upregulating EZH2 and mediating miR-361/GPNMB axis.
    Submit: New GeneRIF Correction See all GeneRIFs (1330)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Weaver syndrome
    MedGen: C0265210 OMIM: 277590 GeneReviews: EZH2-Related Overgrowth
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat induces EZH2 phophorylation in an Akt1 dependent manner PubMed
    tat HIV-1 Tat decreases EZH2 levels on the HIV-1 LTR PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC9169

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II core promoter sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H3 methyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables histone H3K27 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone H3K27 methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H3K27 methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables histone H3K27 methyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables histone H3K27 trimethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables lncRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables primary miRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables promoter-specific chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-lysine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-lysine N-methyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables ribonucleoprotein complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription corepressor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables transcription corepressor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in G1 to G0 transition IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in G1/S transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cardiac muscle hypertrophy in response to stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to trichostatin A IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebellar cortex development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin organization TAS
    Traceable Author Statement
    more info
    		  
    involved_in facultative heterochromatin formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hepatocyte homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heterochromatin formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in liver regeneration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of G1/S transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cytokine production involved in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of gene expression, epigenetic IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of gene expression, epigenetic IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of gene expression, epigenetic TAS
    Traceable Author Statement
    more info
    		  
    involved_in negative regulation of keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of retinoic acid receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of striated muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription elongation by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cell cycle G1/S phase transition IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of dendrite development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to chromatin IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein modification process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    		  
    involved_in regulation of circadian rhythm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of gliogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of kidney development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to tetrachloromethane IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in subtelomeric heterochromatin formation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in synaptic transmission, GABAergic IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of ESC/E(Z) complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ESC/E(Z) complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of chromatin silencing complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromosome, telomeric region IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of pericentric heterochromatin IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in pronucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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
    XP_005250019.1
    XP_005250020.1
    XP_005250021.1
    XP_011514185.1
    XP_011514187.1
    XP_011514189.1
    XP_011514191.1
    XP_011514192.1
    XP_011514194.1
    XP_011514195.1
    XP_011514196.1
    XP_011514197.1
    XP_011514198.1
    XP_011514201.1
    XP_011514203.1
    XP_016867306.1
    XP_016867308.1
    XP_016867309.1
    XP_047275945.1
    XP_047275946.1
    XP_047275947.1
    XP_047275948.1
    XP_047275949.1
    XP_047275950.1
    XP_047275951.1
    XP_047275952.1
    XP_047275953.1
    XP_047275954.1
    XP_047275955.1
    XP_047275956.1
    XP_047275957.1
    XP_047275958.1
    XP_047275960.1
    XP_047275961.1
    XP_047275962.1
    XP_047275963.1
    XP_047275964.1
    XP_047275965.1
    XP_054213455.1
    XP_054213456.1
    XP_054213457.1
    XP_054213458.1
    XP_054213459.1
    XP_054213460.1
    XP_054213461.1
    XP_054213462.1
    XP_054213463.1
    XP_054213464.1
    XP_054213465.1
    XP_054213466.1
    XP_054213467.1
    XP_054213468.1
    XP_054213469.1
    XP_054213470.1
    XP_054213471.1
    XP_054213472.1
    XP_054213473.1
    XP_054213474.1
    XP_054213475.1
    XP_054213476.1
    XP_054213477.1
    XP_054213478.1
    XP_054213479.1
    XP_054213480.1
    XP_054213481.1
    XP_054213482.1
    XP_054213483.1
    XP_054213484.1
    XP_054213485.1
    XP_054213486.1
    XP_054213487.1
    XP_054213488.1
    XP_054213489.1
    XP_054213490.1
    XP_054213491.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001203247.2 → NP_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
      B2RAQ1, B3KS30, B7Z1D6, B7Z7L6, Q15755, Q15910, Q75MG3, Q92857, Q96FI6
      UniProtKB/TrEMBL
      Q75MP9
      Related
      ENSP00000419711.1, ENST00000460911.5
      Conserved Domains (4) summary
      cd19218
      Location:609 → 728
      SET_EZH2; SET domain found in enhancer of zeste homolog 2 (EZH2) and similar proteins
      pfam11616
      Location:39 → 68
      EZH2_WD-Binding; WD repeat binding protein EZH2
      pfam18118
      Location:158 → 249
      PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
      pfam18264
      Location:559 → 590
      preSET_CXC; CXC domain

    2. NM_001203248.2 → NP_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/TrEMBL
      Q75MP9
      Related
      ENSP00000419856.1, ENST00000483967.5
      Conserved Domains (4) summary
      cd19218
      Location:600 → 719
      SET_EZH2; SET domain found in enhancer of zeste homolog 2 (EZH2) and similar proteins
      pfam11616
      Location:39 → 68
      EZH2_WD-Binding; WD repeat binding protein EZH2
      pfam18118
      Location:149 → 240
      PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
      pfam18264
      Location:550 → 581
      preSET_CXC; CXC domain

    3. NM_001203249.2 → NP_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/TrEMBL
      Q75MP9
      Related
      ENSP00000419050.1, ENST00000476773.5
      Conserved Domains (4) summary
      cd19218
      Location:558 → 677
      SET_EZH2; SET domain found in enhancer of zeste homolog 2 (EZH2) and similar proteins
      pfam11616
      Location:39 → 68
      EZH2_WD-Binding; WD repeat binding protein EZH2
      pfam18118
      Location:149 → 240
      PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
      pfam18264
      Location:508 → 539
      preSET_CXC; CXC domain

    4. NM_004456.5 → NP_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, Q75MQ0
      Related
      ENSP00000320147.2, ENST00000320356.7
      Conserved Domains (4) summary
      cd19218
      Location:614 → 733
      SET_EZH2; SET domain found in enhancer of zeste homolog 2 (EZH2) and similar proteins
      pfam11616
      Location:39 → 68
      EZH2_WD-Binding; WD repeat binding protein EZH2
      pfam18118
      Location:158 → 249
      PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
      pfam18264
      Location:564 → 595
      preSET_CXC; CXC domain

    5. NM_152998.3 → NP_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/TrEMBL
      Q75MP9, S4S3R8
      Related
      ENSP00000223193.2, ENST00000350995.6
      Conserved Domains (4) summary
      cd19218
      Location:570 → 689
      SET_EZH2; SET domain found in enhancer of zeste homolog 2 (EZH2) and similar proteins
      pfam11616
      Location:39 → 68
      EZH2_WD-Binding; WD repeat binding protein EZH2
      pfam18118
      Location:119 → 210
      PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
      pfam18264
      Location:520 → 551
      preSET_CXC; CXC domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      148807383..148884291 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420002.1 → XP_047275958.1  histone-lysine N-methyltransferase EZH2 isoform X22

    2. XM_017011820.3 → XP_016867309.1  histone-lysine N-methyltransferase EZH2 isoform X20

      UniProtKB/TrEMBL
      Q75MQ0
      Conserved Domains (4) summary
      cd19218
      Location:566 → 685
      SET_EZH2; SET domain found in enhancer of zeste homolog 2 (EZH2) and similar proteins
      pfam11616
      Location:39 → 68
      EZH2_WD-Binding; WD repeat binding protein EZH2
      pfam18118
      Location:110 → 201
      PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
      pfam18264
      Location:516 → 547
      preSET_CXC; CXC domain

    3. XM_011515887.4 → XP_011514189.1  histone-lysine N-methyltransferase EZH2 isoform X7

      See identical proteins and their annotated locations for XP_011514189.1

      UniProtKB/TrEMBL
      Q75MQ0
      Conserved Domains (4) summary
      cd19218
      Location:605 → 724
      SET_EZH2; SET domain found in enhancer of zeste homolog 2 (EZH2) and similar proteins
      pfam11616
      Location:39 → 68
      EZH2_WD-Binding; WD repeat binding protein EZH2
      pfam18118
      Location:149 → 240
      PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
      pfam18264
      Location:555 → 586
      preSET_CXC; CXC domain

    4. XM_047420004.1 → XP_047275960.1  histone-lysine N-methyltransferase EZH2 isoform X24

      UniProtKB/TrEMBL
      F2YMM1

    5. XM_011515894.3 → XP_011514196.1  histone-lysine N-methyltransferase EZH2 isoform X14

      See identical proteins and their annotated locations for XP_011514196.1

      UniProtKB/TrEMBL
      Q75MQ0
      Conserved Domains (4) summary
      cd19218
      Location:575 → 694
      SET_EZH2; SET domain found in enhancer of zeste homolog 2 (EZH2) and similar proteins
      pfam11616
      Location:39 → 68
      EZH2_WD-Binding; WD repeat binding protein EZH2
      pfam18118
      Location:119 → 210
      PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
      pfam18264
      Location:525 → 556
      preSET_CXC; CXC domain

    6. XM_047420001.1 → XP_047275957.1  histone-lysine N-methyltransferase EZH2 isoform X19

    7. XM_047419999.1 → XP_047275955.1  histone-lysine N-methyltransferase EZH2 isoform X17

    8. XM_047419990.1 → XP_047275946.1  histone-lysine N-methyltransferase EZH2 isoform X2

    9. XM_047419997.1 → XP_047275953.1  histone-lysine N-methyltransferase EZH2 isoform X9

    10. XM_047419992.1 → XP_047275948.1  histone-lysine N-methyltransferase EZH2 isoform X4

      UniProtKB/Swiss-Prot
      B2RAQ1, B3KS30, B7Z1D6, B7Z7L6, Q15755, Q15910, Q75MG3, Q92857, Q96FI6

    11. XM_047419993.1 → XP_047275949.1  histone-lysine N-methyltransferase EZH2 isoform X5

    12. XM_047419998.1 → XP_047275954.1  histone-lysine N-methyltransferase EZH2 isoform X13

    13. XM_011515883.3 → XP_011514185.1  histone-lysine N-methyltransferase EZH2 isoform X1

      See identical proteins and their annotated locations for XP_011514185.1

      UniProtKB/TrEMBL
      Q75MQ0
      Conserved Domains (2) summary
      smart00317
      Location:625 → 746
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam11616
      Location:47 → 75
      EZH2_WD-Binding; WD repeat binding protein EZH2

    14. XM_047419994.1 → XP_047275950.1  histone-lysine N-methyltransferase EZH2 isoform X5

    15. XM_005249962.5 → XP_005250019.1  histone-lysine N-methyltransferase EZH2 isoform X2

      See identical proteins and their annotated locations for XP_005250019.1

      UniProtKB/TrEMBL
      Q75MP9
      Conserved Domains (4) summary
      cd19218
      Location:617 → 736
      SET_EZH2; SET domain found in enhancer of zeste homolog 2 (EZH2) and similar proteins
      pfam11616
      Location:47 → 76
      EZH2_WD-Binding; WD repeat binding protein EZH2
      pfam18118
      Location:166 → 257
      PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
      pfam18264
      Location:567 → 598
      preSET_CXC; CXC domain

    16. XM_047419989.1 → XP_047275945.1  histone-lysine N-methyltransferase EZH2 isoform X1

    17. XM_047419991.1 → XP_047275947.1  histone-lysine N-methyltransferase EZH2 isoform X30

      UniProtKB/TrEMBL
      A0A090N8E9

    18. XM_047420000.1 → XP_047275956.1  histone-lysine N-methyltransferase EZH2 isoform X18

    19. XM_011515895.3 → XP_011514197.1  histone-lysine N-methyltransferase EZH2 isoform X16

      UniProtKB/TrEMBL
      Q75MQ0
      Conserved Domains (2) summary
      smart00317
      Location:577 → 698
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam11616
      Location:47 → 75
      EZH2_WD-Binding; WD repeat binding protein EZH2

    20. XM_005249964.5 → XP_005250021.1  histone-lysine N-methyltransferase EZH2 isoform X21

      See identical proteins and their annotated locations for XP_005250021.1

      UniProtKB/TrEMBL
      Q75MP9
      Conserved Domains (2) summary
      smart00317
      Location:569 → 690
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam11616
      Location:47 → 75
      EZH2_WD-Binding; WD repeat binding protein EZH2

    21. XM_005249963.5 → XP_005250020.1  histone-lysine N-methyltransferase EZH2 isoform X5

      See identical proteins and their annotated locations for XP_005250020.1

      UniProtKB/TrEMBL
      Q75MP9
      Conserved Domains (4) summary
      cd19218
      Location:608 → 727
      SET_EZH2; SET domain found in enhancer of zeste homolog 2 (EZH2) and similar proteins
      pfam11616
      Location:47 → 76
      EZH2_WD-Binding; WD repeat binding protein EZH2
      pfam18118
      Location:157 → 248
      PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
      pfam18264
      Location:558 → 589
      preSET_CXC; CXC domain

    22. XM_011515885.3 → XP_011514187.1  histone-lysine N-methyltransferase EZH2 isoform X3

      UniProtKB/TrEMBL
      Q75MQ0
      Conserved Domains (4) summary
      cd19218
      Location:613 → 732
      SET_EZH2; SET domain found in enhancer of zeste homolog 2 (EZH2) and similar proteins
      pfam11616
      Location:47 → 76
      EZH2_WD-Binding; WD repeat binding protein EZH2
      pfam18118
      Location:157 → 248
      PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
      pfam18264
      Location:563 → 594
      preSET_CXC; CXC domain

    23. XM_011515896.3 → XP_011514198.1  histone-lysine N-methyltransferase EZH2 isoform X23

      See identical proteins and their annotated locations for XP_011514198.1

      UniProtKB/TrEMBL
      Q75MP9
      Conserved Domains (2) summary
      smart00317
      Location:539 → 660
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam11616
      Location:47 → 75
      EZH2_WD-Binding; WD repeat binding protein EZH2

    24. XM_011515893.3 → XP_011514195.1  histone-lysine N-methyltransferase EZH2 isoform X13

      See identical proteins and their annotated locations for XP_011514195.1

      UniProtKB/TrEMBL
      Q75MP9
      Conserved Domains (2) summary
      smart00317
      Location:581 → 702
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam11616
      Location:47 → 75
      EZH2_WD-Binding; WD repeat binding protein EZH2

    25. XM_011515890.3 → XP_011514192.1  histone-lysine N-methyltransferase EZH2 isoform X11

      UniProtKB/TrEMBL
      Q75MQ0
      Conserved Domains (2) summary
      smart00317
      Location:586 → 707
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam11616
      Location:47 → 75
      EZH2_WD-Binding; WD repeat binding protein EZH2

    26. XM_017011819.2 → XP_016867308.1  histone-lysine N-methyltransferase EZH2 isoform X15

      UniProtKB/TrEMBL
      Q75MP9
      Conserved Domains (2) summary
      smart00317
      Location:578 → 699
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam11616
      Location:47 → 75
      EZH2_WD-Binding; WD repeat binding protein EZH2

    27. XM_011515892.3 → XP_011514194.1  histone-lysine N-methyltransferase EZH2 isoform X12

      See identical proteins and their annotated locations for XP_011514194.1

      UniProtKB/TrEMBL
      Q75MQ0
      Conserved Domains (2) summary
      smart00317
      Location:583 → 704
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam11616
      Location:47 → 75
      EZH2_WD-Binding; WD repeat binding protein EZH2

    28. XM_017011817.3 → XP_016867306.1  histone-lysine N-methyltransferase EZH2 isoform X1

      UniProtKB/TrEMBL
      Q75MQ0
      Conserved Domains (2) summary
      smart00317
      Location:625 → 746
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam11616
      Location:47 → 75
      EZH2_WD-Binding; WD repeat binding protein EZH2

    29. XM_011515889.3 → XP_011514191.1  histone-lysine N-methyltransferase EZH2 isoform X10

      UniProtKB/TrEMBL
      Q75MQ0
      Conserved Domains (3) summary
      cd19218
      Location:592 → 711
      SET_EZH2; SET domain found in enhancer of zeste homolog 2 (EZH2) and similar proteins
      pfam18118
      Location:136 → 227
      PRC2_HTH_1; Polycomb repressive complex 2 tri-helical domain
      pfam18264
      Location:542 → 573
      preSET_CXC; CXC domain

    30. XM_047419996.1 → XP_047275952.1  histone-lysine N-methyltransferase EZH2 isoform X8

    31. XM_047419995.1 → XP_047275951.1  histone-lysine N-methyltransferase EZH2 isoform X6

    32. XM_047420005.1 → XP_047275961.1  histone-lysine N-methyltransferase EZH2 isoform X25

    33. XM_047420006.1 → XP_047275962.1  histone-lysine N-methyltransferase EZH2 isoform X25

    34. XM_011515901.4 → XP_011514203.1  histone-lysine N-methyltransferase EZH2 isoform X28

      See identical proteins and their annotated locations for XP_011514203.1

      UniProtKB/TrEMBL
      B7Z8K5
      Conserved Domains (1) summary
      pfam11616
      Location:47 → 75
      EZH2_WD-Binding; WD repeat binding protein EZH2

    35. XM_047420008.1 → XP_047275964.1  histone-lysine N-methyltransferase EZH2 isoform X28

    36. XM_047420007.1 → XP_047275963.1  histone-lysine N-methyltransferase EZH2 isoform X27

    37. XM_011515899.4 → XP_011514201.1  histone-lysine N-methyltransferase EZH2 isoform X26

      Conserved Domains (1) summary
      pfam11616
      Location:47 → 75
      EZH2_WD-Binding; WD repeat binding protein EZH2

    38. XM_047420009.1 → XP_047275965.1  histone-lysine N-methyltransferase EZH2 isoform X29

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      149989157..150066070 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357507.1 → XP_054213482.1  histone-lysine N-methyltransferase EZH2 isoform X22

    2. XM_054357505.1 → XP_054213480.1  histone-lysine N-methyltransferase EZH2 isoform X20

    3. XM_054357491.1 → XP_054213466.1  histone-lysine N-methyltransferase EZH2 isoform X7

    4. XM_054357509.1 → XP_054213484.1  histone-lysine N-methyltransferase EZH2 isoform X24

      UniProtKB/TrEMBL
      F2YMM1

    5. XM_054357499.1 → XP_054213474.1  histone-lysine N-methyltransferase EZH2 isoform X14

    6. XM_054357504.1 → XP_054213479.1  histone-lysine N-methyltransferase EZH2 isoform X19

    7. XM_054357502.1 → XP_054213477.1  histone-lysine N-methyltransferase EZH2 isoform X17

    8. XM_054357484.1 → XP_054213459.1  histone-lysine N-methyltransferase EZH2 isoform X2

    9. XM_054357493.1 → XP_054213468.1  histone-lysine N-methyltransferase EZH2 isoform X9

    10. XM_054357486.1 → XP_054213461.1  histone-lysine N-methyltransferase EZH2 isoform X4

      UniProtKB/Swiss-Prot
      B2RAQ1, B3KS30, B7Z1D6, B7Z7L6, Q15755, Q15910, Q75MG3, Q92857, Q96FI6

    11. XM_054357488.1 → XP_054213463.1  histone-lysine N-methyltransferase EZH2 isoform X5

    12. XM_054357498.1 → XP_054213473.1  histone-lysine N-methyltransferase EZH2 isoform X13

    13. XM_054357482.1 → XP_054213457.1  histone-lysine N-methyltransferase EZH2 isoform X1

    14. XM_054357489.1 → XP_054213464.1  histone-lysine N-methyltransferase EZH2 isoform X5

    15. XM_054357483.1 → XP_054213458.1  histone-lysine N-methyltransferase EZH2 isoform X2

    16. XM_054357481.1 → XP_054213456.1  histone-lysine N-methyltransferase EZH2 isoform X1

    17. XM_054357496.1 → XP_054213471.1  histone-lysine N-methyltransferase EZH2 isoform X12

    18. XM_054357501.1 → XP_054213476.1  histone-lysine N-methyltransferase EZH2 isoform X16

    19. XM_054357506.1 → XP_054213481.1  histone-lysine N-methyltransferase EZH2 isoform X21

    20. XM_054357485.1 → XP_054213460.1  histone-lysine N-methyltransferase EZH2 isoform X3

    21. XM_054357508.1 → XP_054213483.1  histone-lysine N-methyltransferase EZH2 isoform X23

    22. XM_054357495.1 → XP_054213470.1  histone-lysine N-methyltransferase EZH2 isoform X11

    23. XM_054357500.1 → XP_054213475.1  histone-lysine N-methyltransferase EZH2 isoform X15

    24. XM_054357480.1 → XP_054213455.1  histone-lysine N-methyltransferase EZH2 isoform X1

    25. XM_054357503.1 → XP_054213478.1  histone-lysine N-methyltransferase EZH2 isoform X18

    26. XM_054357487.1 → XP_054213462.1  histone-lysine N-methyltransferase EZH2 isoform X5

    27. XM_054357497.1 → XP_054213472.1  histone-lysine N-methyltransferase EZH2 isoform X13

    28. XM_054357494.1 → XP_054213469.1  histone-lysine N-methyltransferase EZH2 isoform X10

    29. XM_054357492.1 → XP_054213467.1  histone-lysine N-methyltransferase EZH2 isoform X8

    30. XM_054357490.1 → XP_054213465.1  histone-lysine N-methyltransferase EZH2 isoform X6

    31. XM_054357510.1 → XP_054213485.1  histone-lysine N-methyltransferase EZH2 isoform X25

    32. XM_054357511.1 → XP_054213486.1  histone-lysine N-methyltransferase EZH2 isoform X25

    33. XM_054357515.1 → XP_054213490.1  histone-lysine N-methyltransferase EZH2 isoform X28

    34. XM_054357514.1 → XP_054213489.1  histone-lysine N-methyltransferase EZH2 isoform X28

    35. XM_054357513.1 → XP_054213488.1  histone-lysine N-methyltransferase EZH2 isoform X27

    36. XM_054357512.1 → XP_054213487.1  histone-lysine N-methyltransferase EZH2 isoform X26

    37. XM_054357516.1 → XP_054213491.1  histone-lysine N-methyltransferase EZH2 isoform X29

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15910.2 GenPept UniProtKB/Swiss-Prot:Q15910

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