SET2

SET2 is a gene that in humans is encoded by the SETD2 protein. SETD2 is a histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) at specific regions of the genome. Methylation of H3K36me3 is often associated with active transcription and is involved in the regulation of various biological processes such as DNA repair and cell cycle progression.

Function[edit | edit source]

SETD2 is a member of the SET domain containing family of histone methyltransferases. It is the primary enzyme responsible for the deposition of the H3K36me3 mark. This mark is associated with active transcription and is involved in the regulation of various biological processes such as DNA repair and cell cycle progression. SETD2 also plays a role in the regulation of alternative splicing and is involved in the maintenance of genome stability.

Clinical significance[edit | edit source]

Mutations in the SETD2 gene have been associated with a variety of human diseases. These include clear cell renal cell carcinoma, a type of kidney cancer, and leukemia, a type of blood cancer. In addition, SETD2 mutations have been implicated in developmental disorders such as Sotos syndrome and Weaver syndrome.