EDN2
Chr 1endothelin 2
Also known as: ET-2, ET2, PPET2
Endothelin-2 is a secreted vasoconstrictor peptide that binds to endothelin receptors and regulates vascular tone and various physiological processes including blood pressure control. Mutations in EDN2 cause Feingold syndrome type 2, an autosomal dominant developmental disorder characterized by microcephaly, limb malformations (particularly digital anomalies), and gastrointestinal atresias. The gene shows tolerance to loss-of-function variants, suggesting the pathogenic variants may act through alternative mechanisms.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EDN2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools