Mutated genes in cancer (62) – EZH2

EZH2

In databases:

● Entrez (http://www.ncbi.nlm.nih.gov/sites/gquery): 2146 or EZH2

● Ensembl (http://www.ensembl.org/index.html): ENSG00000106462

● UniProt (http://www.uniprot.org/): Q15910

● OMIM (http://www.ncbi.nlm.nih.gov/omim): 601573

● GeneCards (http://www.genecards.org/): EZH2

● HGNC (http://www.genenames.org/): 3527 or EZH2

● Enzyme Number (IUBMB): EC 2.1.1

Gene locus :

7q35-q36

Protein name:

Enhancer of zeste homolog 2

Protein Size:

746 amino acids; about 85 kDa

Function:

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.

Cancer-related alterations

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.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135584/pdf/pone.0021651.pdf

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.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874722/pdf/nihms195231.pdf

Comprehensive evaluation of the role of EZH2 in the growth, invasion, and aggression of a panel of prostate cancer cell lines. Karanikolas BD, Figueiredo ML, Wu L. Prostate. 2010 May 1;70(6):675-88.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2848714/pdf/nihms179057.pdf