Gene: EZH2

Alternate names for this Gene: ENX-1|ENX1|EZH2b|KMT6|KMT6A|WVS|WVS2

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q36.1

Description of this Gene: enhancer of zeste 2 polycomb repressive complex 2 subunit

Type of Gene: protein-coding

rs1057519894 in EZH2 gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1554499814 in EZH2 gene and Dysmorphic features PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 22190405 2011 Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

PMID 24214728 2013 Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

PMID 9781912 1998 Weaver syndrome: autosomal dominant inheritance of the disorder.

PMID 22177091 2012 Mutations in EZH2 cause Weaver syndrome.

rs1057519833 in EZH2 gene and Lymphoma PMID 23023262 2012 A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells.

PMID 24563539 2014 Selective inhibition of EZH2 by EPZ-6438 leads to potent antitumor activity in EZH2-mutant non-Hodgkin lymphoma.

rs1057519894 in EZH2 gene and Lymphoma, Non-Hodgkin, Familial PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1554499814 in EZH2 gene and Overgrowth PMID 24214728 2013 Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

PMID 9781912 1998 Weaver syndrome: autosomal dominant inheritance of the disorder.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 22177091 2012 Mutations in EZH2 cause Weaver syndrome.

PMID 22190405 2011 Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

rs10952780 in EZH2 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10952780 in EZH2 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs397515547 in EZH2 gene and Weaver syndrome PMID 28229514 2017 Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.

PMID 23239504 2013 Weaver syndrome and defective cortical development: a rare association.

PMID 22190405 2011 Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

PMID 22177091 2012 Mutations in EZH2 cause Weaver syndrome.

PMID 26694085 2016 Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

PMID 24214728 2013 Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.