EZH2

EZH2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4MI0, 4MI5, 5HYN, 5IJ8, 5IJ7
Identifiers
Aliases	EZH2, ENX-1, ENX1, EZH1, EZH2b, KMT6, KMT6A, WVS, WVS2, enhancer of zeste 2 polycomb repressive complex 2 subunit
External IDs	OMIM: 601573; MGI: 107940; HomoloGene: 37926; GeneCards: EZH2; OMA:EZH2 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q36.1 Start 148,807,257 bp[1] End 148,884,321 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 B2.3|6 22.92 cM Start 47,530,139 bp[2] End 47,595,341 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone buccal mucosa cell left testis right testis sperm testicle gingival epithelium mucosa of transverse colon skin of abdomen Top expressed in tail of embryo secondary oocyte genital tubercle zygote primary oocyte ventricular zone primitive streak ganglionic eminence medial ganglionic eminence thymus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity sequence-specific DNA binding transferase activity promoter-specific chromatin binding chromatin binding histone-lysine N-methyltransferase activity protein-lysine N-methyltransferase activity protein binding RNA binding ribonucleoprotein complex binding chromatin DNA binding RNA polymerase II core promoter sequence-specific DNA binding primary miRNA binding DNA binding histone methyltransferase activity histone methyltransferase activity (H3-K27 specific) RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific transcription corepressor activity Cellular component ESC/E(Z) complex pronucleus nucleus nucleoplasm cytoplasm telomere Biological process regulation of protein phosphorylation regulation of gliogenesis response to estradiol regulation of transcription, DNA-templated positive regulation of MAP kinase activity rhythmic process negative regulation of retinoic acid receptor signaling pathway regulation of transcription by RNA polymerase II negative regulation of striated muscle cell differentiation G1 to G0 transition negative regulation of transcription by RNA polymerase II positive regulation of dendrite development positive regulation of epithelial to mesenchymal transition negative regulation of transcription elongation from RNA polymerase II promoter transcription, DNA-templated negative regulation of DNA-binding transcription factor activity positive regulation of protein serine/threonine kinase activity negative regulation of gene expression negative regulation of G1/S transition of mitotic cell cycle histone H3-K27 methylation positive regulation of GTPase activity DNA methylation negative regulation of epidermal cell differentiation methylation negative regulation of gene expression, epigenetic regulation of cell population proliferation regulation of circadian rhythm skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration cerebellar cortex development regulation of gene expression negative regulation of transcription, DNA-templated protein localization to chromatin hippocampus development regulation of neurogenesis cellular response to hydrogen peroxide response to tetrachloromethane cellular response to trichostatin A histone H3-K27 trimethylation cardiac muscle hypertrophy in response to stress hepatocyte homeostasis liver regeneration histone methylation negative regulation of G0 to G1 transition chromatin organization positive regulation of cell population proliferation positive regulation of cell cycle G1/S phase transition Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2146 14056 Ensembl ENSG00000106462 ENSMUSG00000029687 UniProt Q15910 Q61188 RefSeq (mRNA) NM_001203247 NM_001203248 NM_001203249 NM_004456 NM_152998 NM_001146689 NM_007971 RefSeq (protein) NP_001190176 NP_001190177 NP_001190178 NP_004447 NP_694543 NP_001140161 NP_031997 Location (UCSC) Chr 7: 148.81 – 148.88 Mb Chr 6: 47.53 – 47.6 Mb PubMed search [3] [4]
Wikidata
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Enhancer of zeste homolog 2 (EZH2) is a histone-lysine N-methyltransferase enzyme (EC 2.1.1.43) encoded by EZH2 gene, that participates in histone methylation and, ultimately, transcriptional repression.^[5] EZH2 catalyzes the addition of methyl groups to histone H3 at lysine 27,^[6] by using the cofactor S-adenosyl-L-methionine. Methylation activity of EZH2 facilitates heterochromatin formation thereby silences gene function.^[5] Remodeling of chromosomal heterochromatin by EZH2 is also required during cell mitosis.

EZH2 is the functional enzymatic component of the Polycomb Repressive Complex 2 (PRC2), which is responsible for healthy embryonic development through the epigenetic maintenance of genes responsible for regulating development and differentiation.^[7] EZH2 is responsible for the methylation activity of PRC2, and the complex also contains proteins required for optimal function (EED, SUZ12, JARID2, AEBP2, RbAp46/48, and PCL).^[8]

Mutation or over-expression of EZH2 has been linked to many forms of cancer.^[9] EZH2 inhibits genes responsible for suppressing tumor development, and blocking EZH2 activity may slow tumor growth. EZH2 has been targeted for inhibition because it is upregulated in multiple cancers including, but not limited to, breast,^[10] prostate,^[11] melanoma,^[12] and bladder cancer.^[13] Mutations in the EZH2 gene are also associated with Weaver syndrome, a rare congenital disorder,^[14] and EZH2 is involved in causing neurodegenerative symptoms in the nervous system disorder, ataxia telangiectasia.^[15]