EDNRB Human Protein

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]

ETB: a G protein-coupled receptor which activates a phosphatidylinoitol-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 mutation in endothelin receptor type B gene. Essential component in the normal development of two neuronal crest-derived cell lineages. Two splice variant isoforms have been described.

Protein type: GPCR, family 1; Membrane protein, multi-pass; Receptor, GPCR; Membrane protein, integral

Chromosomal Location of Human Ortholog: 13q22

Cellular Component: nuclear membrane; integral to plasma membrane; plasma membrane; lipid raft

Molecular Function: endothelin receptor activity; protein binding; peptide hormone binding; type 1 angiotensin receptor binding

Biological Process: epithelial fluid transport; cGMP-mediated signaling; regulation of fever; negative regulation of cellular protein metabolic process; response to pain; negative regulation of transcription from RNA polymerase II promoter; vein smooth muscle contraction; sensory perception of pain; response to organic cyclic substance; enteric nervous system development; vasodilation; regulation of epithelial cell proliferation; elevation of cytosolic calcium ion concentration; cell surface receptor linked signal transduction; regulation of blood pressure; melanocyte differentiation; positive regulation of cell proliferation; regulation of pH; neural crest cell migration; aging; vasoconstriction; nervous system development; posterior midgut development; negative regulation of adenylate cyclase activity; macrophage chemotaxis; peripheral nervous system development; negative regulation of neuron maturation; G-protein signaling, coupled to IP3 second messenger (phospholipase C activating); regulation of sensory perception of pain; positive regulation of protein amino acid phosphorylation; negative regulation of apoptosis

Disease: Abcd Syndrome; Waardenburg Syndrome, Type 4a; Hirschsprung Disease, Susceptibility To, 2