EP300
Chr 22ADEP300 lysine acetyltransferase
Also known as: KAT3B, MKHK2, RSTS2, p300
The protein functions as a histone acetyltransferase that regulates transcription via chromatin remodeling and is essential for cell proliferation and differentiation. Heterozygous loss-of-function mutations cause Rubinstein-Taybi syndrome 2 and Menke-Hennekam syndrome 2 through autosomal dominant inheritance. The gene is highly intolerant to loss-of-function variants, indicating haploinsufficiency as the underlying pathogenic mechanism.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EP300 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGGenotype-guided Targeted Agents Plus EZH2i for Primary Refractory PTCL
NOT YET RECRUITINGExercise to Fight Obesity
RECRUITINGExternal Resources
Links to major genomics databases and tools