EDN1

Chr 6

endothelin 1

Also known as: ARCND3, ET1, HDLCQ7, PPET1, QME

NCBI Gene: 1906ENSG00000078401UniProt: P05305

This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtQuestion mark ears, isolated
UniProtAuriculocondylar syndrome 3

Clinical highlights

Gene-disease validity (ClinGen)
auriculocondylar syndrome · ARLimitednot for standalone diagnostic reporting
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
3
Active trials
98
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.64
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.455
Z-score 2.33
OE 0.20 (0.08–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.17Z-score
OE missense 0.96 (0.82–1.12)
113 obs / 118.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.20 (0.08–0.64)
0≤0.351.4
Missense OE?0.96 (0.82–1.12)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 2 / 9.9Missense obs/exp: 113 / 118.2Syn Z: -0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EDN1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients