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GeneE
27 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EPS15
epidermal growth factor receptor pathway substrate 15
Chromosome 1 · 1p32.3
NCBI Gene: 2060Ensembl: ENSG00000085832.18HGNC: HGNC:3419UniProt: A0A994J5A3
205PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneOncogeneTransporter
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
polyubiquitin modification-dependent protein bindingreceptor-mediated endocytosis of virus by host cellmembraneaggresomeatrial fibrillationAbnormality of the skeletal systemcardiomyopathygastric carcinoma
✦AI Summary

EPS15 (epidermal growth factor receptor pathway substrate 15) is a key adaptor protein essential for clathrin-mediated endocytosis and receptor trafficking. The protein contains three N-terminal EH domains that recognize NPF-containing motifs in partner proteins, enabling promiscuous interactions with endocytic machinery components 1. EPS15 localizes to clathrin-coated pits where it interacts with AP-2 and other clathrin assembly complexes, facilitating receptor-mediated internalization of EGFR, transferrin receptor, and integrin β1 2. Beyond endocytosis, EPS15 participates in post-Golgi trafficking and plays a regulatory role in clathrin-coated pit maturation through invagination and budding 2. Recent evidence indicates EPS15 functions in autophagy-mediated responses to particulate matter exposure in airway epithelium, with reduced EPS15 expression attenuating endocytic uptake of particles 3. Additionally, EPS15 homology domain-containing proteins interact with junctophilin MORN motifs to facilitate ER-plasma membrane contact site formation at curved membrane regions 4. Clinically, EPS15 is implicated in leukemogenesis, as the EPS15 gene is recurrently rearranged with KMT2A in acute myeloid leukemia, including the 1p32/KMT2A::EPS15 fusion 5. The protein's transforming potential and ubiquitous expression underscore its importance in cell growth regulation and proliferation control 6.

Sources cited
1
EPS15 EH domains exhibit binding promiscuity for NPF motifs and other phenylalanine-containing motifs, enabling complex interaction networks with partner proteins like Dab2
PMID: 40841375
2
EPS15 localizes to clathrin-coated pits, interacts with AP-2 and Epsin, and is required for receptor-mediated endocytosis of EGF and transferrin
PMID: 10481267
3
EPS15 expression is regulated by autophagy inhibition and EPS15 mediates endocytosis of particulate matter in airway epithelium
PMID: 31203721
4
EPS15 homology domain-containing proteins interact with junctophilin MORN motifs and regulate ER-plasma membrane contact formation at curved membrane regions
PMID: 39289582
5
EPS15 is involved in KMT2A-rearranged pediatric acute myeloid leukemia, with 1p32/KMT2A::EPS15 fusion identified as a recurring chromosomal aberration
PMID: 38621200
6
EPS15 is a tyrosine kinase substrate with transforming potential, is ubiquitously expressed, and maps to chromosome 1p31-p32
PMID: 8183552
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.44Moderate
Abnormality of the skeletal systemOpen Targets
0.43Moderate
cardiomyopathyOpen Targets
0.40Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
HER2 Positive Breast CarcinomaOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
listeriosisOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
pancreatic ductal adenocarcinomaOpen Targets
0.37Weak
skin carcinomaOpen Targets
0.37Weak
alopecia areataOpen Targets
0.32Weak
prostate adenocarcinomaOpen Targets
0.31Weak
hepatocellular carcinomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AMPHProtein interaction100%BIN1Protein interaction100%HGSProtein interaction100%SYNJ2Protein interaction100%UBCProtein interaction100%GRB2Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
51%
Lung
34%
Bone Marrow
34%
Ovary
31%
Liver
21%
Gene Interaction Network
Click a node to explore
EPS15AMPHBIN1HGSSYNJ2UBCGRB2
PROTEIN STRUCTURE
Preparing viewer…
PDB4RHG · 1.58 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.50–0.85]
RankingsWhere EPS15 stands among ~20K protein-coding genes
  • #2,042of 20,598
    Most Researched205 · top 10%
  • #7,356of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedEPS15
Sources retrieved27 papers
Response time—
📄 Sources
27▼
1
Optimized cytogenetic risk-group stratification of KMT2A-rearranged pediatric acute myeloid leukemia.
PMID: 38621200
Blood Adv · 2024
1.00
2
Inactivation of MTOR promotes autophagy-mediated epithelial injury in particulate matter-induced airway inflammation.
PMID: 31203721
Autophagy · 2020
0.90
3
m
PMID: 40703029
Cancer Commun (Lond) · 2025
0.80
4
Promiscuous and multivalent interactions between Eps15 and partner protein Dab2 generate a complex interaction network.
PMID: 40841375
Nat Commun · 2025
0.80
5
RNASEK interacting with PEDV structural proteins facilitates virus entry via clathrin-mediated endocytosis.
PMID: 39835814
J Virol · 2025
0.72