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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HEG1
heart development protein with EGF like domains 1
Chromosome 3 · 3q21.2
NCBI Gene: 57493Ensembl: ENSG00000173706.15HGNC: HGNC:29227UniProt: Q9ULI3
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcell-cell junctionnegative regulation of Rho protein signal transductionprotein localization to cell junctionbladder calculushidradenitisnephrolithiasistype 2 diabetes mellitus
✦AI Summary

HEG1 (heart development protein with EGF-like domains 1) is a multifunctional endothelial and epithelial protein with critical roles in cardiovascular homeostasis and disease pathogenesis. As a component of the CCM (cerebral cavernous malformation) signaling pathway, HEG1 regulates endothelial cell junction stability and vascular integrity 1. Mechanistically, HEG1 functions as a shear stress-sensitive mediator: stable blood flow induces HEG1 expression, which then translocates to endothelial cells and regulates the MEKK3-MEK5-ERK5-MEF2 pathway to promote KLF2/4 expression, ultimately enhancing NO production and vasodilation 12. At the molecular level, HEG1 facilitates CUL3-mediated degradation of PHACTR1, thereby promoting eNOS transcription and maintaining endothelial function 2. Clinically, reduced HEG1 expression associates with atherosclerosis development and hypertension; HEG1-knockout mice exhibit accelerated atherosclerotic plaques and elevated blood pressure 12. Beyond cardiovascular disease, HEG1 serves as a diagnostic marker for mesothelioma (91% sensitivity, 99.7% specificity) 3 and as a prognostic biomarker in lung adenocarcinoma, where downregulation correlates with poor survival 4. In malignant mesothelioma, HEG1 supports cell proliferation through miR-23b-mediated evasion of apoptosis 5. These findings establish HEG1 as a potential therapeutic target for cardiovascular and malignant diseases.

Sources cited
1
HEG1 is induced by stable flow and protects against atherosclerosis by regulating KLF2/4 expression through KRIT1 and MEKK3-MEK5-ERK5-MEF2 pathway
PMID: 38099436
2
HEG1 regulates blood pressure and endothelial function via CUL3-mediated PHACTR1 degradation and eNOS transcription
PMID: 40986512
3
HEG1 is a mesothelioma marker with 91% sensitivity and 99.7% specificity for distinguishing epithelioid/biphasic mesothelioma from lung carcinoma
PMID: 36008876
4
HEG1 is downregulated in lung adenocarcinoma and lower expression correlates with shorter overall survival and poor prognosis
PMID: 35950222
5
HEG1 supports malignant mesothelioma cell proliferation through miR-23b-mediated suppression of apoptosis and autophagy
PMID: 32284171
Disease Associationsⓘ20
bladder calculusOpen Targets
0.32Weak
hidradenitisOpen Targets
0.31Weak
nephrolithiasisOpen Targets
0.30Weak
type 2 diabetes mellitusOpen Targets
0.23Weak
diabetes mellitusOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
mesotheliomaOpen Targets
0.09Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.07Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
obesityOpen Targets
0.06Suggestive
delta-beta-thalassemiaOpen Targets
0.06Suggestive
kidney diseaseOpen Targets
0.06Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KRIT1Protein interaction86%CCM2Protein interaction85%PDCD10Protein interaction77%SMYD4Shared pathway33%ADAP2Shared pathway33%SMYD3Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Lung
41%
Brain
16%
Ovary
11%
Liver
4%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
HEG1KRIT1CCM2PDCD10SMYD4ADAP2SMYD3
PROTEIN STRUCTURE
Preparing viewer…
PDB4HDQ · 1.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.51 [0.41–0.65]
RankingsWhere HEG1 stands among ~20K protein-coding genes
  • #12,362of 20,598
    Most Researched28
  • #4,643of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedHEG1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PRMT3-mediated arginine methylation of IGF2BP1 promotes oxaliplatin resistance in liver cancer.
PMID: 37024475
Nat Commun · 2023
1.00
2
HEG1 Protects Against Atherosclerosis by Regulating Stable Flow-Induced KLF2/4 Expression in Endothelial Cells.
PMID: 38099436
Circulation · 2024
0.90
3
Shear stress-induced endothelial HEG1 signalling regulates vascular tone and blood pressure.
PMID: 40986512
Eur Heart J · 2025
0.80
4
Hypothesis: HEG1 and claudin-4 staining will allow a diagnosis of epithelioid and biphasic mesothelioma versus non-small-cell lung carcinoma with only two stains in most cases.
PMID: 36008876
Histopathology · 2023
0.70
5
Human Skeletal Muscle Possesses an Epigenetic Memory of Hypertrophy.
PMID: 29382913
Sci Rep · 2018
0.60