Species Human Entrez 29072 | Human Mouse Ensembl ENSG00000181555 | |
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Aliases SETD2, HBP231, HIF-1, HIP-1, HYPB, KMT3A, SET2, p231HBP, HSPC069, LLS, SET domain containing 2 External IDs MGI: 1918177 HomoloGene: 56493 GeneCards: SETD2 | ||
SET domain containing 2 is an enzyme that in humans is encoded by the SETD2 gene.
Contents
Function
SETD2 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.
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 Huntingtin. 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. SETD2 belongs to a class of huntingtin interacting proteins characterized by WW motifs.