Gene: EP300

Alternate names for this Gene: KAT3B|MKHK2|RSTS2|p300

Gene 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.2

Description of this Gene: E1A binding protein p300

Type of Gene: protein-coding

Gene: EP300-AS1

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rs1210404526 in EP300;EP300-AS1 gene and Malformations of Cortical Development, Group II PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

rs1057519375 in EP300;EP300-AS1 gene and RUBINSTEIN-TAYBI SYNDROME 2 PMID 25741868 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

PMID 25712426 2015 Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.