Mutated genes in cancer (9) – SETD2

SETD2

In databases:

● Entrez (http://www.ncbi.nlm.nih.gov/sites/gquery): 29072 or SETD2

● Ensembl (http://www.ensembl.org/index.html): ENSG00000181555

● UniProt (http://www.uniprot.org/): Q9BYW2

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

● GeneCards (http://www.genecards.org/): SETD2

● HGNC (http://www.genenames.org/): 18420 or SETD2

● Enzyme Number (IUBMB): EC 2.1.1.43

Gene locus :

3p21.31

Protein name:

SET domain containing 2

Protein Size:

2564 amino acids; about 288 kDa

Function:

This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. Findings suggest that the histone methyltransferase SETD2 could selectively regulate the transcription of subset genes via cooperation with the transcription factor p53

Cancer-related alterations:

Somatic SETD2 mutations have been observed in a small percentage of kidney (about 5% of cases), breast and skin tumors. They are point mutations (mostly substitutions) or deletions. There are no mutational hot spots.

References (open access):

Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma. Duns G, van den Berg E, van Duivenbode I, Osinga J, Hollema H, Hofstra RM, Kok K. Cancer Res. 2010 Jun 1;70(11):4287-91.

http://cancerres.aacrjournals.org/content/70/11/4287.full.pdf+html

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Dalgliesh GL, Furge K, Greenman C, Chen L, Bignell G, Butler A, Davies H, Edkins S, Hardy C, Latimer C, Teague J, Andrews J, Barthorpe S, Beare D, Buck G, Campbell PJ, Forbes S, Jia M, Jones D, Knott H, Kok CY, Lau KW, Leroy C, Lin ML, McBride DJ, Maddison M, Maguire S, McLay K, Menzies A, Mironenko T, Mulderrig L, Mudie L, O'Meara S, Pleasance E, Rajasingham A, Shepherd R, Smith R, Stebbings L, Stephens P, Tang G, Tarpey PS, Turrell K, Dykema KJ, Khoo SK, Petillo D, Wondergem B, Anema J, Kahnoski RJ, Teh BT, Stratton MR, Futreal PA. Nature. 2010 Jan 21;463(7279):360-3.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820242/pdf/ukmss-28099.pdf

The mRNA expression of SETD2 in human breast cancer: correlation with clinico-pathological parameters. Al Sarakbi W, Sasi W, Jiang WG, Roberts T, Newbold RF, Mokbel K. BMC Cancer. 2009 Aug 21;9:290.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3087337/pdf/1471-2407-9-290.pdf