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EP300 E1A binding protein p300

Gene ID: 2033, updated on 9-Jan-2022
Gene type: protein coding
Also known as: p300; KAT3B; MKHK2; 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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
GeneReviews: Not available
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Malignant Colorectal Neoplasm
MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome
See labs
Menke-Hennekam syndrome 2
MedGen: C5193035OMIM: 618333GeneReviews: Not available
See labs
Rubinstein-Taybi syndrome 1See labs
Rubinstein-Taybi syndrome 2See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2013-03-14)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2013-03-14)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
22q13.2
Sequence:
Chromosome: 22; NC_000022.11 (41092592..41180077)
Total number of exons:
31

Links

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