EDNRB
Chr 13ARADendothelin receptor type B
Also known as: ABCDS, ET-B, ET-BR, ETB, ETB1, ETBR, ETRB, HSCR
This gene encodes endothelin receptor type B, a G protein-coupled receptor that binds endothelin peptides and activates phosphatidylinositol-calcium signaling pathways. Mutations cause Hirschsprung disease type 2 and Waardenburg syndrome type 4A, conditions affecting enteric nervous system development and neural crest cell migration respectively. The gene shows both autosomal recessive and autosomal dominant inheritance patterns depending on the associated phenotype.
Limited evidence — not for standalone diagnostic reporting
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function, dominant-negative and loss-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EDNRB · 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