E1A-Binding Protein, 300-kD

Alternative Names

  • EP300
  • p300

Associated Diseases

Rubinstein-Taybi Syndrome 2
Back to search Result
OMIM Number

602700

NCBI Gene ID

2033

Uniprot ID

Q09472

Length

87,486 bases

No. of Exons

31

No. of isoforms

1

Protein Name

Histone acetyltransferase p300

Molecular Mass

264161 Da

Amino Acid Count

2414

Genomic Location

chr22:41,092,591-41,180,076

Gene Map Locus
22q13.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001429.4:c.1092C>ASaudi ArabiaNC_000022.11:g.41127672C>ALikely PathogenicPathogenicRubinstein-Taybi Syndrome 2NG_009817.1:g.40063C>A; NM_001429.4:c.1092C>A; NP_001420.2:p.Cys364Ter786205557191170
NM_001429.4:c.1552G>CSaudi ArabiaNC_000022.11:g.41135836G>CUncertain SignificanceRubinstein-Taybi Syndrome 2NG_009817.1:g.48227G>C; NM_001429.4:c.1552G>C; NP_001420.2:p.Gly518Arg
NM_001429.4:c.6677G>ASaudi ArabiaNC_000022.11:g.41178388G>ALikely PathogenicRubinstein-Taybi Syndrome 2NG_009817.1:g.90779G>A; NM_001429.4:c.6677G>A; NP_001420.2:p.Arg2226Gln372813939
© CAGS 2024. All rights reserved.