Symbol: Name: ID: |
SETD2 SET domain containing 2 GFS:7278 |
Gene name: | SETD2 |
Chromosome: | 3p21.31 |
Previous Symbols: | |
Previous Names: | |
Aliases: | HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1918177 | Rat Genome Database ID: | RGD:1305576 |
HGNC ID: | HGNC:18420 | RefSeq IDs: | NM_014159 |
Entrez Gene ID: | 29072 | Ensembl Gene ID: | ENSG00000181555 |
VEGA IDs: | OTTHUMG00000133514 | UniProt ID: | Q9BYW2 |
UCSC ID: | uc003cqs.2 | OMIM ID: | 612778 |
Pubmed: | PMID16118227 PMID 11461154 | ||
CCDS IDs: | CCDSCCDS2749.2 |
Histone-lysine N-methyltransferase SETD2 is an enzyme that in humans is encoded by the SETD2 gene.
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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Histone methyltransferase that methylates 'Lys-36' of histone H3. H3 'Lys-36' methylation represents a specific tag for epigenetic transcriptional activation. Probably plays a role in chromatin structure modulation during elongation via its interaction with hyperphosphorylated POLR2A. Binds DNA at promoters. May also act as a transcription activator that binds to promoters. Binds to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression.
Products for SETD2 gene
Catalog | Product Name | Application | Company |
GFS:E07278 | SET domain containing 2; ELISA kit | ELISA | n/a |
GFS:A07278 | SET domain containing 2; Anti | ANTIBODIES | n/a |
GFS:P07278 | SET domain containing 2; Protien | Protien | n/a |