EP300 (Entrez ID: 2033)

Entrez Gene ID 2033
Official Gene Symbol EP300 (GeneCards)
Full name E1A binding protein p300
Location 22q13.2
Other ids Vega : OTTHUMG00000150937
MIM : 602700
HGNC : HGNC:3373
Ensembl : ENSG00000100393
Other names p300, KAT3B, RSTS2
Summary This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]

Variants

Found 1 variant in this database.