| Entrez Gene ID |
29072 (NCBI Gene) |
| Official Gene Symbol |
SETD2 (GeneCards) |
| Number of variants in SETD2 in this database |
33 (view all the variants) |
| Full name |
SET domain containing 2 |
| Band |
3p21.31 |
| Other IDs |
Vega:
OTTHUMG00000133514
OMIM:
612778
HGNC:
HGNC:18420
Ensembl:
ENSG00000181555
|
| Other names |
LLS,
HYPB,
SET2,
HIF-1,
HIP-1,
KMT3A,
HBP231,
HSPC069,
p231HBP
|
| 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] |