| Gene Symbol |
SETD2
|
| Gene Synonyms |
LLS HYPB SET2 HIF-1 HIP-1 KMT3A MRD70 RAPAS HBP231 HSPC069 p231HBP |
| Gene Full Name |
SET domain containing 2, histone lysine methyltransferase |
| Gene Summary |
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] |
| Alternative Names |
EC 2.1.1.43 FLJ16420 FLJ22472 FLJ23184 FLJ45883 HBP231 HIF 1 HIF-1 HIF1 HIP-1 Histone lysine N methyltransferase SETD2 Histone-lysine N-methyltransferase SETD2 hSET2 HSPC069 Huntingtin interacting protein 1 Huntingtin interacting protein Huntingtin interacting protein B Huntingtin interacting protein HYPB Huntingtin yeast partner B Huntingtin-binding protein 231-KD Huntingtin-interacting protein 1 Huntingtin-interacting protein B HYPB KIAA1732 KMT3A Lysine N methyltransferase 3A Lysine N-methyltransferase 3A p231HBP SET domain containing 2 SET domain-containing protein 2 SET2 SETD2 SETD2_HUMAN |
| Molecular Weight(MW) |
288 kDa |
| Cellular Localization |
Chromosome,Nucleus. |