EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
Gene ID: 2146, updated on 10-Oct-2024Gene type: protein coding
Also known as: WVS; ENX1; KMT6; WVS2; ENX-1; EZH2b; KMT6A
- See all available tests in GTR for this gene
- Go to complete Gene record for EZH2
- Go to Variation Viewer for EZH2 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Weaver syndrome | See labs |
Genomic context
- Location:
- 7q36.1
- Sequence:
- Chromosome: 7; NC_000007.14 (148807383..148884291, complement)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EZH2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EZH2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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