Aliases for EDNRB Gene
External Ids for EDNRB Gene
Previous HGNC Symbols for EDNRB Gene
Previous GeneCards Identifiers for EDNRB Gene
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]
GeneCards Summary for EDNRB Gene
EDNRB (Endothelin Receptor Type B) is a Protein Coding gene. Diseases associated with EDNRB include Waardenburg Syndrome, Type 4A and Hirschsprung Disease 2. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and type 1 angiotensin receptor binding. An important paralog of this gene is EDNRA.
UniProtKB/Swiss-Prot Summary for EDNRB Gene
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.
The endothelinB receptor (ETB receptor) is a member of the endothelin receptor group of G-protein-coupled receptors that also includes ETA. They are located primarily in vascular endothelial cells where they play a role in vasoconstriction, vasodilation and cell proliferation.