EP300 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the EP300 gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | EP300 |
|---|---|
| Full Name | E1A binding protein p300 |
| Gene Type | protein coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 2033 ncbi.nlm.nih.gov/gene/2033 |
| Ensembl ID | ENSG00000100393 |
| UniProt ID | Q09472 |
| OMIM ID | 602700 |
| HGNC ID | 3373 |
| Aliases | p300, KAT3B, RSTS2 |
Description
The EP300 gene encodes the p300 protein, a histone acetyltransferase that regulates transcription by acetylating histones and other transcription factors. It is involved in cell growth, differentiation, and apoptosis. Mutations in EP300 are associated with Rubinstein-Taybi syndrome and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rubinstein-Taybi syndrome | Loss-of-function mutations leading to haploinsufficiency | OMIM, ClinVar |
| Colorectal cancer | Somatic mutations and loss of expression | COSMIC, literature |
| Breast cancer | Mutations and altered expression | COSMIC, literature |
| Gastric cancer | Mutations and epigenetic silencing | COSMIC, literature |
| Acute myeloid leukemia | Translocations and mutations | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 20.1 | Medium |
| Heart | 15.3 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 14.5 | Medium |
| Testis | 18.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.3 | Cervical cancer cell line |
| A549 | 22.1 | Lung cancer cell line |
| MCF7 | 19.8 | Breast cancer cell line |
| K562 | 17.4 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.4577C>T (p.Pro1526Leu) | Missense | 0.01% | Loss of acetyltransferase activity |
| c.4996C>T (p.Arg1666Ter) | Nonsense | 0.005% | Truncated protein, loss of function |
| c.4292_4293del (p.Gln1431ArgfsTer5) | Frameshift | 0.002% | Premature stop codon |
| c.5822G>A (p.Arg1941Gln) | Missense | 0.008% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Most EP300 mutations in Rubinstein-Taybi syndrome are loss-of-function, leading to haploinsufficiency.
Gain of Function (GOF)
Rare gain-of-function mutations have been reported in some cancers, enhancing cell proliferation.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner, interfering with wild-type p300 function.
View complete mutation data：
Gene Ontology (GO)
| • histone acetyltransferase activity | • transcription coactivator activity |
| • protein binding | • DNA binding |
| • chromatin binding | • regulation of transcription by RNA polymerase II |
Pathways
• Notch signaling pathway
• Wnt signaling pathway
• p53 signaling pathway
• Cell cycle regulation
• Apoptosis
Protein Summary
The p300 protein is a large (300 kDa) transcriptional coactivator that acetylates all four core histones and many non-histone proteins, including p53, MYC, and RB1. It plays a central role in chromatin remodeling and gene expression regulation. Its activity is essential for embryonic development and cellular differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EP300 Knockout HEK293 Cell Line | EDJ-KQ460 | Human | 2033 | Details Get a Quote |
| EP300 Knockout HeLa Cell Line | EDJ-KQ18339 | Human | 2033 | Details Get a Quote |
| EP300 Knockout A-549 Cell Line | EDJ-KQ18767 | Human | 2033 | Details Get a Quote |
| EP300 Knockout HCT 116 Cell Line | EDJ-KQ18768 | Human | 2033 | Details Get a Quote |
| EP300 (p.T594M) Point Mutation in HAP1 Cell Line | EDC03455 | Human | 2033 | Details Get a Quote |
| EP300 (p.T1061=) Point Mutation in HAP1 Cell Line | EDC03456 | Human | 2033 | Details Get a Quote |
| EP300 (p.Y1467=) Point Mutation in HAP1 Cell Line | EDC03458 | Human | 2033 | Details Get a Quote |
| EP300 (c.4026-17C>A )Point Mutation in HAP1 Cell Line | EDC03457 | Human | 2033 | Details Get a Quote |
| EP300 (c.4453-23T>C )Point Mutation in HAP1 Cell Line | EDC03459 | Human | 2033 | Details Get a Quote |
| EP300(p.S833L*)Point Mutation in HEK293T Cell Line | EDC90575 | Human | 2033 | Details Get a Quote |
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