EDNRB

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. Three transcript variants encoding two different isoforms have been found for this gene. While both isoforms bind ET1, they exhibit different responses upon binding, suggesting that they may be functionally distinct. [provided by RefSeq]

endothelin receptor type B

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.

Aging Source: Ensembl
Calcium-mediated signaling Source: UniProtKB
Cell surface receptor signaling pathway Source: ProtInc
Cellular response to lipopolysaccharide Source: Ensembl
cGMP-mediated signaling Source: Ensembl
Endothelin receptor signaling pathway Source: BHF-UCL
Enteric nervous system development Source: BHF-UCL
Enteric smooth muscle cell differentiation Source: BHF-UCL
Epithelial fluid transport Source: Ensembl
Macrophage chemotaxis Source: BHF-UCL
Melanocyte differentiation Source: Ensembl
Negative regulation of adenylate cyclase activity Source: ProtInc
Negative regulation of apoptotic process Source: Ensembl
Negative regulation of cellular protein metabolic process Source: BHF-UCL
Negative regulation of neuron maturation Source: BHF-UCL
Negative regulation of transcription by RNA polymerase II Source: BHF-UCL
Nervous system development Source: ProtInc
Neural crest cell migration Source: Ensembl
Peripheral nervous system development Source: Ensembl
Phospholipase C-activating G protein-coupled receptor signaling pathway Source: ProtInc
Positive regulation of cell population proliferation Source: Ensembl
Positive regulation of cytosolic calcium ion concentration Source: Ensembl
Positive regulation of penile erection Source: Ensembl
Positive regulation of protein phosphorylation Source: Ensembl
Positive regulation of renal sodium excretion Source: Ensembl
Positive regulation of urine volume Source: Ensembl
Posterior midgut development Source: Ensembl
Regulation of blood pressure Source: Ensembl
Regulation of epithelial cell proliferation Source: Ensembl
Regulation of fever generation Source: Ensembl
Regulation of pH Source: Ensembl
Regulation of sensory perception of pain Source: Ensembl
Response to endothelin Source: Ensembl
Response to organic cyclic compound Source: Ensembl
Response to pain Source: Ensembl
Sensory perception of pain Source: Ensembl
Vasoconstriction Source: BHF-UCL
Vasodilation Source: Ensembl
Vein smooth muscle contraction Source: BHF-UCL

Cell membrane. Internalized after activation by endothelins.

Waardenburg syndrome 4A (WS4A):
A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
Hirschsprung disease 2 (HSCR2):
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
ABCD syndrome (ABCDS):
An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine.
Heterozygous mutations in EDNRB may be responsible for Waardenburg syndrome 2, an autosomal dominant disorder characterized by sensorineural deafness and pigmentary disturbances.

Extracellular: 27-101
Helical: 102-126
Cytoplasmic: 127-137
Helical: 138-163
Extracellular: 164-175
Helical: 176-197
Cytoplasmic: 198-218
Helical: 219-243
Extracellular: 244-271
Helical: 272-296
Cytoplasmic: 297-324
Helical: 325-350
Extracellular: 351-362
Helical: 363-389
Cytoplasmic: 390-442

Palmitoylation of Cys-402 was confirmed by the palmitoylation of Cys-402 in a deletion mutant lacking both Cys-403 and Cys-405.