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 RET signaling and Signaling by GPCR. 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.