EZH2
Sign in to saveAlso known as ENX-1, ENX1, EZH1, EZH2b, KMT6, KMT6A, WVS, WVS2
Enhancer of zeste homolog 2 (EZH2) is a histone-lysine N-methyltransferase enzyme (EC 2.1.1.43) encoded by gene, that participates in histone methylation and, ultimately, transcriptional repression. EZH2 catalyzes the addition of methyl groups to histone H3 at lysine 27, by using the cofactor S-adenosyl-L-methionine. Methylation activity of EZH2 facilitates heterochromatin formation thereby silences gene function. Remodeling of chromosomal heterochromatin by EZH2 is also required during cell mitosis.
Gene data
EZH2- Name
- enhancer of zeste 2 polycomb repressive complex 2 subunit
- Type
- protein-coding
- Position
- 148,807,257–148,884,330 (−)
- Aliases
- ENX-1, ENX1, EZH2b, KMT6, KMT6A, WVS, WVS2
- Ensembl
- ENSG00000106462
- RefSeq RNA
- NM_001203247.2, NM_001203248.2, NM_001203249.2, NM_004456.5, NM_152998.3
- RefSeq protein
- NP_001190176.1, NP_001190177.1, NP_001190178.1, NP_004447.2, NP_694543.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
enhancer of zeste 2 polycomb repressive complex 2 subunit
- Symbol
- EZH2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 7:148,807,257-148,884,625
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 37926
- exact match
- identifiers.org/ncbigene/2146
- genomic end
- 148581413
- genomic start
- 148807257
- cytogenetic location
- 7q36.1
Sources (7)
via Wikidata · CC0
~18 min read
Article
17 sectionsContents
- Function
- Transcription repression
- Transcription activation
- Development and cell differentiation
- Regulation of EZH2 activity
- Enzymatic activity
- Lysine methylation
- Mechanism of catalysis
- Clinical significance
- Cancer
- Inhibitors
- Skeletal development
- Weaver Syndrome
- Taxonomic distribution
- See also
- References
- Further reading
Enhancer of zeste homolog 2 (EZH2) is a histone-lysine N-methyltransferase enzyme (EC 2.1.1.43) encoded by gene, that participates in histone methylation and, ultimately, transcriptional repression. EZH2 catalyzes the addition of methyl groups to histone H3 at lysine 27, by using the cofactor S-adenosyl-L-methionine. Methylation activity of EZH2 facilitates heterochromatin formation thereby silences gene function. 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. 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).