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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EDN1
endothelin 1
Chromosome 6 · 6p24.1
NCBI Gene: 1906Ensembl: ENSG00000078401.8HGNC: HGNC:3176UniProt: P05305
927PubMed Papers
22Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of hormone secretionpositive regulation of smooth muscle cell proliferationvein smooth muscle contractionpositive regulation of calcium-mediated signalingauriculocondylar syndromequestion mark ears, isolatedcolorectal canceralcohol drinking
✦AI Summary

EDN1 encodes endothelin-1, a potent vasoconstrictor peptide that serves as a critical regulator of vascular function and development. The primary function of EDN1 involves binding to G-protein coupled receptors EDNRA and EDNRB, activating downstream signaling cascades including PTK2B, BCAR1, BCAR3, and GTPases RAP1 and RHOA in glomerular mesangial cells 1. Mechanistically, EDN1 promotes arterial wall remodeling through ROCK signaling activation and subsequent nuclear translocation of NFATC3, which induces transcription of smooth muscle hypertrophy markers like ACTA2 1. During development, endothelin signaling plays crucial roles in neural crest cell maturation and tissue formation 2. Disease relevance includes significant associations with pulmonary arterial hypertension, where EDN1 rs5370 polymorphisms increase PAH risk substantially 3. Additionally, GCN2 kinase mediates hypoxia-induced EDN1 expression via HIF-2α, contributing to pulmonary vascular remodeling and PAH pathogenesis 4. Clinically, EDN1 represents a β-catenin target gene involved in organ fibrosis and cancer-related processes 5, and the nearby PHACTR1 locus influences EDN1 transcription in fibromuscular dysplasia 6. EDN1 transcriptional regulation is tightly controlled through multiple tissue-specific mechanisms 7.

Sources cited
1
EDN1 binds to EDNRA and EDNRB receptors, activating downstream signaling cascades including PTK2B, BCAR1, BCAR3, RAP1 and RHOA
PMID: 38718895
2
EDN1 promotes arterial wall remodeling through ROCK signaling and NFATC3 nuclear translocation leading to ACTA2 transcription
PMID: 38718895
3
Endothelin signaling plays crucial roles in neural crest cell development and tissue formation
PMID: 38078652
4
EDN1 rs5370 polymorphism shows significant association with increased pulmonary arterial hypertension risk
PMID: 30218748
5
GCN2 kinase mediates hypoxia-induced EDN1 expression via HIF-2α in pulmonary arterial hypertension
PMID: 39316438
6
EDN1 is a β-catenin target gene involved in organ fibrosis and cancer processes
PMID: 29786110
7
PHACTR1 locus influences EDN1 transcription activity in fibromuscular dysplasia
PMID: 29883369
8
EDN1 transcriptional regulation is tightly controlled through tissue-specific mechanisms
PMID: 20837776
Disease Associationsⓘ22
auriculocondylar syndromeOpen Targets
0.72Strong
question mark ears, isolatedOpen Targets
0.53Moderate
colorectal cancerOpen Targets
0.39Weak
alcohol drinkingOpen Targets
0.30Weak
urinary tract obstructionOpen Targets
0.25Weak
genetic disorderOpen Targets
0.19Weak
dementiaOpen Targets
0.16Weak
Varicose veinsOpen Targets
0.16Weak
aortic valve stenosisOpen Targets
0.16Weak
atrial fibrillationOpen Targets
0.16Weak
lymphatic system diseaseOpen Targets
0.13Weak
vein disorderOpen Targets
0.12Weak
diabetes mellitusOpen Targets
0.11Weak
secondary malignant neoplasmOpen Targets
0.11Weak
coronary artery diseaseOpen Targets
0.11Weak
chronic obstructive pulmonary diseaseOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
Pallister-Hall syndromeOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.11Weak
pulmonary arterial hypertensionOpen Targets
0.11Weak
Auriculocondylar syndrome 3UniProt
Question mark ears, isolatedUniProt
Pathogenic Variants4
NM_001955.5(EDN1):c.271A>G (p.Lys91Glu)Pathogenic
Auriculocondylar syndrome 3
☆☆☆☆2013→ Residue 91
NM_001955.5(EDN1):c.230C>A (p.Pro77His)Pathogenic
Auriculocondylar syndrome 3
☆☆☆☆2013→ Residue 77
NM_001955.5(EDN1):c.191T>A (p.Val64Asp)Pathogenic
Question mark ears, isolated
☆☆☆☆2013→ Residue 64
NM_001955.5(EDN1):c.249T>G (p.Tyr83Ter)Pathogenic
Question mark ears, isolated
☆☆☆☆2013→ Residue 83
View on ClinVar ↗
Related Genes
UTS2RProtein interaction100%KNG1Protein interaction100%EEF1AKMT4-ECE2Protein interaction100%CCN2Protein interaction96%MMP2Protein interaction96%NPPAProtein interaction94%
Tissue Expression6 tissues
Lung
100%
Brain
71%
Bone Marrow
39%
Heart
17%
Liver
12%
Ovary
8%
Gene Interaction Network
Click a node to explore
EDN1UTS2RKNG1EEF1AKMT4-ECE2CCN2MMP2NPPA
PROTEIN STRUCTURE
Preparing viewer…
PDB1T7H · 1.13 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.36–0.84]
RankingsWhere EDN1 stands among ~20K protein-coding genes
  • #186of 20,598
    Most Researched927 · top 1%
  • #3,662of 5,498
    Most Pathogenic Variants4
  • #7,221of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedEDN1
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Multi‑layered prevention and treatment of chronic inflammation, organ fibrosis and cancer associated with canonical WNT/β‑catenin signaling activation (Review).
PMID: 29786110
Int J Mol Med · 2018
1.00
2
5-HTT, BMPR2, EDN1, ENG, KCNA5 gene polymorphisms and susceptibility to pulmonary arterial hypertension: A meta-analysis.
PMID: 30218748
Gene · 2019
0.90
3
Hypoxic regulation of EDN1, EDNRA, EDNRB, and ECE1 gene expressions in ERN1 knockdown U87 glioma cells.
PMID: 31734650
Endocr Regul · 2019
0.84
4
BMP9 regulates the endothelial secretome to drive pulmonary hypertension.
PMID: 40950088
bioRxiv · 2025
0.80
5
Stretching the Function of Innate Immune Cells.
PMID: 34795674
Front Immunol · 2021
0.80