EDNRB

Chr 13ARAD

endothelin receptor type B

Also known as: ABCDS, ET-B, ET-BR, ETB, ETB1, ETBR, ETRB, HSCR

NCBI Gene: 1910 ENSG00000136160 UniProt: P24530 OMIM: 131244

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?ABCD syndromeMIM #600501

{Hirschsprung disease, susceptibility to, 2}MIM #600155

Waardenburg syndrome, type 4AMIM #277580

ADAR

Clinical highlights

Gene-disease validity (ClinGen)

Waardenburg syndrome type 4A · ADLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total

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.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.59

LOEUF

LOF*

Mechanism· G2P

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GeneReview available — EDNRB