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
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.