SETD2

SETD2

A gene on chromosome 3p21.31 that encodes a ubiquitously expressed histone methyltransferase that specifically methylates Lys-36 of histone H3. Lys-36 methylation is a specific tag for epigenetic transcriptional activation. SETD2 likely plays a role in chromatin structure modulation during elongation via its interaction with hyperphosphorylated POLR2A. It may also act as a promoter-binding transcription activator.
References in periodicals archive ?
Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma.
Of note, mutations in FLNA (28%), SETD2 (21%), and KMT2 (9%) were observed only in PT, suggesting a role in driving PT development.
Deleterious mutations have been observed to be enriched in genes that were not previously appreciated to have a role in suppressing cancer, such as the chromatin regulators ARID 1A, PBRM1, and SETD2, thus broadening our understanding of the cellular pathways deregulated during oncogenesis.
It's the location of the VHL gene and PBRM1, as well as another recently identified mutated gene, SETD2.