EDNRB (Endothelin receptor type B) variants and mutations

EDNRB (also known as Endothelin receptor type B) is a human protein-coding gene encoding an endothelin receptor type B protein. Its annotated function is non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. It is annotated at the cell membrane. This analysis covers 857 EDNRB variants and mutations. Of these, 69% have computational variant effect predictions. Disease context includes Waardenburg syndrome type 4A, Waardenburg-Shah syndrome, and ABCD syndrome. Example EDNRB variants include Q2H, Q2L, and Q2R.

Variant analysis overview

Gene: EDNRB
Protein: Endothelin receptor type B
UniProt accession: P24530
Organism: Homo sapiens
Variants analyzed: 857
Variant scope: all variants
Completed: 2026-08-27

Variant and mutation evidence

Variant composition: 638 unspecified-consequence records; 1 stop retained variant; 1 in-frame deletions; 2 stop lost; 123 missense variants; 71 synonymous variants; 15 frameshift variants; 9 stop-gained variants
Prediction scores: 594 variants have prediction scores (69% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: Waardenburg syndrome type 4A, Waardenburg-Shah syndrome, ABCD syndrome, pulmonary arterial hypertension, pulmonary hypertension, hypertensive disorder, systemic sclerosis, Hirschsprung disease, Waardenburg syndrome, Abnormality of the skeletal system, congenital heart disease, hair color.

Protein structure and variant hotspots

Protein features: 7 transmembrane segments; 7 post-translational modification sites.
Structural context: 298 variants have structural context.
PTM context: 17 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable EDNRB variants

Examples include Q2H, Q2L, Q2R, P3L, P4A, P4H, P5T, S6G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

EDNRB analysis run — EDNRB (857 variants) — completed 2026-08-27