EZH2 gene

EZH2, also called Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit, is a protein coding gene.

Diseases associated with EZH2 include Weaver syndrome and lymphomas. Furthermore, inactivating mutations in the EZH2 gene are associated with myelodysplastic syndromes. They are considered to be prognostically unfavorable (Ernst T et al. 2010). Related pathways include Activated PKN1 stimulates transcription of AR (androgen receptor)-regulated genes KLK2 and KLK3 and Cellular senescence (REACTOME). An important paralog of this gene is EZH1.

Compared to EZH1-containing complexes, EZH2 is more abundant in embryonic stem cells. The encoded protein plays an important role in the formation of H3K27me3, which is required for embryonic stem cell identity and proper differentiation. The PRC2/EED-EZH2 complex may also serve as a recruitment platform for DNA methyltransferases, linking two epigenetic repression systems. EZH2 can also methylate non-histone proteins such as the transcription factor GATA4 and the nuclear receptor RORA.

1. Ernst T et al (2010) Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat Genet 42:722-726.
2. Xiao G et al (2019) EZH2 negatively regulates PD-L1 expression in hepatocellular carcinoma. J Immunother Cancer 7:300.