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. EZH2 protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. EZH2 protein may play a role in the hematopoietic and central nervous systems.
Somatic EZH2 mutations (more than 95% are “substitution missense” affecting amino acid 646) have been described mostly in haematopoietic and lymphoid tissue tumors.
References (free access)
EZH2 Depletion Blocks the Proliferation of Colon Cancer Cells. Fussbroich B, Wagener N, Macher-Goeppinger S, Benner A, Fälth M, Sültmann H, Holzer A, Hoppe-Seyler K, Hoppe-Seyler F. PLoS One. 2011;6(7):e21651.
An integrated network of androgen receptor, polycomb, and TMPRSS2-ERG gene fusions in prostate cancer progression. Yu J, Yu J, Mani RS, Cao Q, Brenner CJ, Cao X, Wang X, Wu L, Li J, Hu M, Gong Y, Cheng H, Laxman B, Vellaichamy A, Shankar S, Li Y, Dhanasekaran SM, Morey R, Barrette T, Lonigro RJ, Tomlins SA, Varambally S, Qin ZS, Chinnaiyan AM. Cancer Cell. 2010 May 18;17(5):443-54.