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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EP400
E1A binding protein p400
Chromosome 12 · 12q24.33
NCBI Gene: 57634Ensembl: ENSG00000183495.16HGNC: HGNC:11958UniProt: Q96L91
158PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of double-strand break repair via homologous recombinationregulation of cell cycleNuA4 histone acetyltransferase complexSwr1 complexneurodegenerative diseasehypertensionessential hypertensionesophageal ulcer
✦AI Summary

EP400 is a core catalytic ATPase subunit of ATP-dependent chr12 remodeling complexes, functioning as the structural scaffold of the human NuA4/TIP60 acetyltransferase complex 1. As a component of NuA4, EP400 coordinates histone acetylation of H4 and H2A, and mediates ATP-dependent exchange of histone H2A-H2B for H2A.Z-H2B variants to regulate transcription and maintain genome stability 2. EP400 integrates multiple functional modules—the motor module containing RUVBL1-RUVBL2, the actin-related protein (ARP) module, and the TRRAP module—establishing a three-lobed architecture that is essential for complex assembly and nucleosome binding 3. EP400 exhibits compensatory functionality with SWI/SNF chr12 remodelers; when SWI/SNF activity is inhibited, EP400/TIP60 reestablishes chr12 accessibility at most promoters, and synthetic lethality occurs between EP400 and SWI/SNF in cancer cells 4. EP400 variants cause epilepsy with neurodevelopmental disorders through disruption of brain development; the gene is highly expressed in the developing brain with neuron-type-specific temporal patterns, and loss of EP400 function dysregulates 84 epilepsy/neurodevelopmental disorder-associated genes 5. In glioblastoma, the EP400 complex maintains H2A.Z occupancy at p53 target loci through BRD8, creating repressive chr12 that prevents p53-mediated tumor suppression 6.

Sources cited
1
EP400 serves as a scaffold holding functional modules (motor, ARP, TRRAP) within the NuA4/TIP60 complex; complex performs histone acetylation and H2A.Z incorporation
PMID: 39088653
2
EP400 contains the ATPase motor and constitutes the scaffold of three-lobed TIP60-C architecture; mediates ATP-dependent histone H2A-H2B to H2A.Z-H2B exchange
PMID: 39260417
3
EP400 acts as backbone integrating motor, ARP, and TRRAP modules; RUVBL1-RUVBL2 hexamer serves as core for EP400 ATPase assembly
PMID: 39154037
4
EP400/TIP60 remodeler compensates for SWI/SNF loss by reestablishing chromatin accessibility at promoters; synthetic lethality exists between EP400 and SWI/SNF
PMID: 37922899
5
EP400 variants cause epilepsy with neurodevelopmental disorders; gene is highly expressed in developing brain with neuron-specific temporal patterns; EP400 deficiency dysregulates 84 epilepsy/NDD-associated genes
PMID: 39708813
6
EP400 complex maintains H2A.Z occupancy at p53 target loci through BRD8, creating repressive chromatin in glioblastoma
PMID: 36544023
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
hypertensionOpen Targets
0.28Weak
essential hypertensionOpen Targets
0.27Weak
esophageal ulcerOpen Targets
0.16Weak
Neurodevelopmental disorderOpen Targets
0.15Weak
Blackfan-Diamond anemiaOpen Targets
0.05Suggestive
melanomaOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
X-linked sideroblastic anemia 1Open Targets
0.03Suggestive
myelodysplastic syndrome associated with isolated del(5q)Open Targets
0.03Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.03Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.03Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.03Suggestive
delta-beta-thalassemiaOpen Targets
0.03Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.03Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLAC1Protein interaction100%KANSL2Protein interaction100%KANSL3Protein interaction100%H2AC20Protein interaction100%EP300Protein interaction100%H2AC18Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
100%
Brain
63%
Lung
62%
Liver
50%
Heart
42%
Gene Interaction Network
Click a node to explore
EP400PLAC1KANSL2KANSL3H2AC20EP300H2AC18
PROTEIN STRUCTURE
Preparing viewer…
PDB9CAF · 2.35 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.31 [0.26–0.36]
RankingsWhere EP400 stands among ~20K protein-coding genes
  • #2,845of 20,598
    Most Researched158 · top quartile
  • #1,659of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedEP400
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Global identification of SWI/SNF targets reveals compensation by EP400.
PMID: 37922899
Cell · 2023
1.00
2
Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.
PMID: 39708813
Am J Hum Genet · 2025
0.90
3
Structural insights into the human NuA4/TIP60 acetyltransferase and chromatin remodeling complex.
PMID: 39088653
Science · 2024
0.80
4
BRD8 maintains glioblastoma by epigenetic reprogramming of the p53 network.
PMID: 36544023
Nature · 2023
0.70
5
MRG Proteins Are Shared by Multiple Protein Complexes With Distinct Functions.
PMID: 35636729
Mol Cell Proteomics · 2022
0.64