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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
GeneCards Summary for EDNRB Gene
EDNRB (Endothelin Receptor Type B) is a Protein Coding gene. Diseases associated with EDNRB include hirschsprung disease 2 and abcd syndrome. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include peptide hormone binding and endothelin receptor activity. An important paralog of this gene is NMBR.
UniProtKB/Swiss-Prot 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 endothelin B 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 the vascular endothelial cells where they play a role in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation. The human ETB receptor gene has been localized to chromosome 13 (13q22).