SETD2

SET domain containing 2 is an is_associated_with::enzyme that in humans is encoded by the SETD2 is_associated_with::gene.

Function
SETD2 protein is a is_associated_with::histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active is_associated_with::chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated is_associated_with::RNA polymerase II.

Clinical significance
The SETD2 gene is located on the short arm of chromosome 3 and has been shown to play a tumour suppressor role in human cancer.

Interactions
SETD2 has been shown to interact with is_associated_with::Huntingtin. is_associated_with::Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a is_associated_with::polyglutamine tract in the HD protein huntingtin. SETD2 belongs to a class of huntingtin interacting proteins characterized by WW motifs.