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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EHD2
EH domain containing 2
Chromosome 19 · 19q13.33
NCBI Gene: 30846Ensembl: ENSG00000024422.13HGNC: HGNC:3243UniProt: Q9NZN4
72PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingextracellular exosomecaveolaplasma membranetriple-negative breast cancerbreast cancerhepatocellular carcinomaesophageal squamous cell carcinoma
✦AI Summary

EHD2 is an ATP- and membrane-binding protein that regulates endocytic membrane trafficking and caveolae dynamics. The protein controls membrane reorganization and tubulation upon ATP hydrolysis, playing crucial roles in endocytic transport between plasma membrane and endosomes 1. EHD2 is highly enriched at cell surface-associated caveolae where it constrains caveolae at the plasma membrane and regulates their equilibrium with surface-dissociated forms 1. In adipocytes, EHD2 localizes to caveolae near cell surface-associated lipid droplets and regulates differentiation, insulin sensitivity, lipid storage, and lipolysis 2. The protein can also function as a nuclear-cytoplasmic shuttle protein, acting as a transcriptional corepressor when nuclear 3. EHD2 demonstrates complex disease relevance with context-dependent effects in cancer. In some cancers like colon and breast cancer, decreased EHD2 expression correlates with poor prognosis and promotes tumor cell migration and invasion through regulation of epithelial-mesenchymal transition markers like E-cadherin 456. However, in triple-negative breast cancer, EHD2 overexpression promotes tumorigenesis and metastasis by regulating store-operated calcium entry through stabilization of Orai1 calcium channels 7. This dual role suggests EHD2's function is highly context-dependent, making it a potential therapeutic target requiring careful consideration of cancer subtype.

Sources cited
1
EHD2 regulates endocytic membrane trafficking and caveolae dynamics
PMID: 24347515
2
EHD2 localizes to caveolae near lipid droplets in adipocytes and regulates metabolic functions
PMID: 30811273
3
EHD2 can function as a nuclear-cytoplasmic shuttle protein and transcriptional corepressor
PMID: 38613224
4
EHD2 overexpression suppresses colon cancer proliferation and invasion
PMID: 33356637
5
Lower EHD2 expression in breast cancer correlates with poor prognosis
PMID: 25557791
6
EHD2 regulates E-cadherin expression and epithelial-mesenchymal transition
PMID: 25758127
7
EHD2 overexpression promotes triple-negative breast cancer through store-operated calcium entry
PMID: 36625722
Disease Associationsⓘ20
triple-negative breast cancerOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.04Suggestive
obesityOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
Abruptio PlacentaeOpen Targets
0.03Suggestive
papillary thyroid carcinomaOpen Targets
0.03Suggestive
body weight gainOpen Targets
0.03Suggestive
poisoningOpen Targets
0.03Suggestive
clear cell renal carcinomaOpen Targets
0.03Suggestive
atrial flutterOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
osteosarcomaOpen Targets
0.02Suggestive
lymph node metastatic carcinomaOpen Targets
0.02Suggestive
gliomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AP2A1Protein interaction93%AP2A2Protein interaction93%AP2B1Protein interaction93%AP2S1Protein interaction93%CLTAProtein interaction93%CLTBProtein interaction93%
Tissue Expression6 tissues
Lung
100%
Ovary
70%
Heart
50%
Liver
12%
Brain
9%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
EHD2AP2A1AP2A2AP2B1AP2S1CLTACLTB
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NZN4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.55–1.02]
RankingsWhere EHD2 stands among ~20K protein-coding genes
  • #6,539of 20,598
    Most Researched72
  • #10,072of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedEHD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The ménage à trois of autophagy, lipid droplets and liver disease.
PMID: 33794741
Autophagy · 2022
1.00
2
EHD2 Overexpression Suppresses the Proliferation, Migration, and Invasion in Human Colon Cancer.
PMID: 33356637
Cancer Invest · 2021
0.90
3
Role of EHD2 in migration and invasion of human breast cancer cells.
PMID: 25557791
Tumour Biol · 2015
0.80
4
EH domain-containing protein 2 (EHD2): Overview, biological function, and therapeutic potential.
PMID: 38613224
Cell Biochem Funct · 2024
0.70
5
Decreased expression and prognostic role of EHD2 in human breast carcinoma: correlation with E-cadherin.
PMID: 25758127
J Mol Histol · 2015
0.60