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Aliases for EZH2 Gene

Aliases for EZH2 Gene

  • Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit 2 3
  • Lysine N-Methyltransferase 6 3 4
  • Enhancer Of Zeste Homolog 2 3 4
  • EC 2.1.1.43 4 63
  • ENX-1 3 4
  • KMT6 3 4
  • Enhancer Of Zeste (Drosophila) Homolog 2 2
  • Enhancer Of Zeste Homolog 2 (Drosophila) 2
  • EC 2.1.1 63
  • EZH2b 3
  • KMT6A 3
  • ENX1 3
  • EZH1 3
  • WVS2 3
  • WVS 3

External Ids for EZH2 Gene

Previous GeneCards Identifiers for EZH2 Gene

  • GC07M146751
  • GC07M147819
  • GC07M147896
  • GC07M147942
  • GC07M148135
  • GC07M148504
  • GC07M142583

Summaries for EZH2 Gene

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 2 Polycomb Repressive Complex 2 Subunit) is a Protein Coding gene. Diseases associated with EZH2 include periodic fever, aphthous stomatitis, pharyngitis and adenitis and weaver syndrome. Among its related pathways are MicroRNAs in cancer and Integrated Pancreatic Cancer Pathway. GO annotations related to this gene include sequence-specific DNA binding and chromatin binding. An important paralog of this gene is KMT2C.

UniProtKB/Swiss-Prot for EZH2 Gene

  • 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 and the nuclear receptor RORA. Regulates the circadian clock via histone methylation at the promoter of the circadian genes. Essential for the CRY1/2-mediated repression of the transcriptional activation of PER1/2 by the CLOCK-ARNTL/BMAL1 heterodimer; involved in the di and trimethylation of Lys-27 of histone H3 on PER1/2 promoters which is necessary for the CRY1/2 proteins to inhibit transcription.

Gene Wiki entry for EZH2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EZH2 Gene

Genomics for EZH2 Gene

Regulatory Elements for EZH2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EZH2 Gene

Chromosome:
7
Start:
148,807,372 bp from pter
End:
148,884,349 bp from pter
Size:
76,978 bases
Orientation:
Minus strand

Genomic View for EZH2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EZH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EZH2 Gene

Proteins for EZH2 Gene

  • Protein details for EZH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15910-EZH2_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase EZH2
    Protein Accession:
    Q15910
    Secondary Accessions:
    • B2RAQ1
    • B3KS30
    • B7Z1D6
    • B7Z7L6
    • Q15755
    • Q75MG3
    • Q92857
    • Q96FI6

    Protein attributes for EZH2 Gene

    Size:
    746 amino acids
    Molecular mass:
    85363 Da
    Quaternary structure:
    • 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. Interacts with CDYL. Interacts with CLOCK, ARNTL/BMAL1 and CRY1 (By similarity).
    SequenceCaution:
    • Sequence=AAS07448.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EZH2 Gene

    Alternative splice isoforms for EZH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EZH2 Gene

Proteomics data for EZH2 Gene at MOPED

Post-translational modifications for EZH2 Gene

  • Glycosylated: O-GlcNAcylation at Ser-75 by OGT increases stability of EZH2 and facilitates the formation of H3K27me3 by the PRC2/EED-EZH2 complex.
  • 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.
  • Sumoylated.
  • Ubiquitination at Lys 61 and Lys 569
  • Glycosylation at Ser 75
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EZH2 (EZH2)

Domains & Families for EZH2 Gene

Protein Domains for EZH2 Gene

Graphical View of Domain Structure for InterPro Entry

Q15910

UniProtKB/Swiss-Prot:

EZH2_HUMAN :
  • Contains 1 CXC domain.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. EZ subfamily.
Domain:
  • Contains 1 CXC domain.
  • Contains 1 SET domain.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. EZ subfamily.
genes like me logo Genes that share domains with EZH2: view

Function for EZH2 Gene

Molecular function for EZH2 Gene

GENATLAS Biochemistry:
Drosophila enhancer of zeste homolog 2,polycomb group,PcG
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]
UniProtKB/Swiss-Prot 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 and the nuclear receptor RORA. Regulates the circadian clock via histone methylation at the promoter of the circadian genes. Essential for the CRY1/2-mediated repression of the transcriptional activation of PER1/2 by the CLOCK-ARNTL/BMAL1 heterodimer; involved in the di and trimethylation of Lys-27 of histone H3 on PER1/2 promoters which is necessary for the CRY1/2 proteins to inhibit transcription.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for EZH2 Gene

Gene Ontology (GO) - Molecular Function for EZH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000975 regulatory region DNA binding --
GO:0001047 core promoter binding ISS --
GO:0003677 DNA binding TAS 8954776
GO:0003682 chromatin binding IDA 20154697
GO:0003723 RNA binding --
genes like me logo Genes that share ontologies with EZH2: view
genes like me logo Genes that share phenotypes with EZH2: view

Animal Models for EZH2 Gene

MGI Knock Outs for EZH2:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EZH2

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for EZH2 Gene

Localization for EZH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EZH2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EZH2 Gene COMPARTMENTS Subcellular localization image for EZH2 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for EZH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 19734898
GO:0005634 nucleus IDA 19144645
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0035098 ESC/E(Z) complex IDA 15385962
genes like me logo Genes that share ontologies with EZH2: view

Pathways & Interactions for EZH2 Gene

genes like me logo Genes that share pathways with EZH2: view

Pathways by source for EZH2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Epigenetic Chromatin Modification Enzymes in human,mouse,rat
    • Epigenetic Chromatin Remodeling Factors in human,mouse,rat

SIGNOR curated interactions for EZH2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for EZH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 20154697
GO:0001932 regulation of protein phosphorylation --
GO:0006306 DNA methylation --
GO:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with EZH2: view

Drugs & Compounds for EZH2 Gene

(10) Drugs for EZH2 Gene - From: HMDB, DGIdb, ApexBio, and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Lysine Approved Nutra Full agonist, Agonist 0
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
EPZ-6438 Pharma EZH2 inhibitor,potent and selective 0
GSK126 Pharma EZH2 inhibitor 0

(2) Additional Compounds for EZH2 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
retinoic acid
302-79-4
VEGF
genes like me logo Genes that share compounds with EZH2: view

Transcripts for EZH2 Gene

Unigene Clusters for EZH2 Gene

Enhancer of zeste homolog 2 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EZH2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EZH2 Gene

No ASD Table

Relevant External Links for EZH2 Gene

GeneLoc Exon Structure for
EZH2
ECgene alternative splicing isoforms for
EZH2

Expression for EZH2 Gene

mRNA expression in normal human tissues for EZH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EZH2 Gene

This gene is overexpressed in Testis (x5.1).

Protein differential expression in normal tissues from HIPED for EZH2 Gene

This gene is overexpressed in Lung (41.3) and Serum (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EZH2 Gene



SOURCE GeneReport for Unigene cluster for EZH2 Gene Hs.444082

mRNA Expression by UniProt/SwissProt for EZH2 Gene

Q15910-EZH2_HUMAN
Tissue specificity: Expressed in many tissues. Overexpressed in numerous tumor types including carcinomas of the breast, colon, larynx, lymphoma and testis.
genes like me logo Genes that share expression patterns with EZH2: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for EZH2 Gene

Orthologs for EZH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EZH2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EZH2 35
  • 90.01 (n)
  • 98.54 (a)
EZH2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EZH2 35
  • 92.02 (n)
  • 98.94 (a)
EZH2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ezh2 35
  • 92.49 (n)
  • 98.26 (a)
Ezh2 16
Ezh2 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EZH2 35
  • 99.82 (n)
  • 99.87 (a)
EZH2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ezh2 35
  • 92.85 (n)
  • 98.12 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 95 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
-- 36
  • 94 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia EZH2 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves EZH2 35
  • 85.57 (n)
  • 96.78 (a)
EZH2 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EZH2 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ezh2 35
  • 80.21 (n)
  • 93.7 (a)
Str.1297 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.19136 35
zebrafish
(Danio rerio)
Actinopterygii Dr.3788 35
ezh2 35
  • 75.72 (n)
  • 86.42 (a)
ezh2 36
  • 84 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9957 35
fruit fly
(Drosophila melanogaster)
Insecta E(z) 37
  • 50 (a)
E(z) 35
  • 56.56 (n)
  • 56.66 (a)
E(z) 36
  • 56 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012516 35
  • 59.71 (n)
  • 61.17 (a)
worm
(Caenorhabditis elegans)
Secernentea mes-2 36
  • 26 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.508 35
rice
(Oryza sativa)
Liliopsida Os.44686 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1039 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
OneToMany
Species with no ortholog for EZH2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EZH2 Gene

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

Paralogs for EZH2 Gene

Paralogs for EZH2 Gene

Pseudogenes.org Pseudogenes for EZH2 Gene

genes like me logo Genes that share paralogs with EZH2: view

Variants for EZH2 Gene

Sequence variations from dbSNP and Humsavar for EZH2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1180312 -- 148,833,466(-) atttt(A/T)ttttt intron-variant
rs1180313 -- 148,830,305(-) TGGTG(C/T)CAGAC intron-variant
rs1544571 -- 148,844,569(-) ACAGA(A/G)TATGG intron-variant
rs1880354 -- 148,860,109(-) TAGCT(A/G)TACAT intron-variant
rs1880355 -- 148,860,010(-) TTTTT(A/T)AATTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EZH2 Gene

Variant ID Type Subtype PubMed ID
nsv522305 CNV Loss 19592680
nsv831183 CNV Loss 17160897
esv1004063 CNV Insertion 20482838
esv259486 OTHER Complex 20981092
esv259894 OTHER Complex 20981092

Variation tolerance for EZH2 Gene

Residual Variation Intolerance Score: 12.08% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.37; 70.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EZH2 Gene

HapMap Linkage Disequilibrium report
EZH2
Human Gene Mutation Database (HGMD)
EZH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EZH2 Gene

Disorders for EZH2 Gene

MalaCards: The human disease database

(25) MalaCards diseases for EZH2 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
periodic fever, aphthous stomatitis, pharyngitis and adenitis
  • marshall syndrome
weaver syndrome
  • weaver-williams syndrome
ezh2-related overgrowth
marshall-smith syndrome
  • weaver syndrome
marshall syndrome
  • deafness, myopia, cataract, saddle nose-marshall type
- elite association
Search EZH2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EZH2_HUMAN
  • 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. {ECO:0000269 PubMed:22177091}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EZH2

Genetic Association Database (GAD)
EZH2
Human Genome Epidemiology (HuGE) Navigator
EZH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EZH2
genes like me logo Genes that share disorders with EZH2: view

No data available for Genatlas for EZH2 Gene

Publications for EZH2 Gene

  1. Histone deacetylase inhibitors deplete enhancer of zeste 2 and associated polycomb repressive complex 2 proteins in human acute leukemia cells. (PMID: 17172412) Fiskus W. … Bhalla K. (Mol. Cancer Ther. 2006) 2 23 67
  2. Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2. (PMID: 8954776) Chen H. … Antonarakis S.E. (Genomics 1996) 2 23 67
  3. Polycomb protein EZH2 regulates E2F1-dependent apoptosis through epigenetically modulating Bim expression. (PMID: 19893569) Wu Z.L. … Yu Q. (Cell Death Differ. 2010) 23 67
  4. High expression of EZH2 is associated with tumor aggressiveness and poor prognosis in patients with esophageal squamous cell carcinoma treated with definitive chemoradiotherapy. (PMID: 19904743) He L.R. … Xie D. (Int. J. Cancer 2010) 23 67
  5. Dietary omega-3 polyunsaturated fatty acids suppress expression of EZH2 in breast cancer cells. (PMID: 19969553) Dimri M. … Dimri G.P. (Carcinogenesis 2010) 23 67

Products for EZH2 Gene

  • Addgene plasmids for EZH2

Sources for EZH2 Gene

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