SETD2

Also known as HBP231, HIF-1, HIP-1, HYPB, KMT3A, SET2, p231HBP, HSPC069

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

Gene data

SETD2

Name: SET domain containing 2, histone lysine methyltransferase
Type: protein-coding
Aliases: HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A, LLS, MRD70, RAPAS, SET2

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. 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. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008].

via MyGene.info