Search for a gene
EZH2 - enhancer of zeste 2 polycomb repressive complex 2 subunit
- Synonym(s) : ENX-1, EZH1, KMT6, KMT6A
- Previous symbols and names : Enhancer of zeste (Drosophila) homolog 2, enhancer of zeste (Drosophila) homolog 2, enhancer of zeste homolog 2 (Drosophila)
- Type : gene with protein product
- Chromosomal location : 7q36.1
- OMIM: 601573
- HGNC: 3527
- UniProtKB: Q15910
- Genatlas: EZH2
- GenCC: EZH2
- Ensembl: ENSG00000106462
- IUPHAR-DB: 2654
- Reactome: Q15910
- LOVD: EZH2
Diseases list
- Disease-causing germline mutation(s) in Weaver syndrome
ORPHA:3447

Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.