background:
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].
Function:
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.
Subcellular Location:
Cell membrane; Multi-pass membrane protein.
Tissue Specificity:
Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells.
Post-translational modifications:
Palmitoylation of Cys-402 was confirmed by the palmitoylation of Cys-402 in a deletion mutant lacking both Cys-403 and Cys-405.
DISEASE:
Defects in EDNRB are a cause of Waardenburg syndrome type 4A (WS4A) [MIM:277580]; also known as Waardenburg-Shah syndrome. WS4A is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
Defects in EDNRB are the cause of Hirschsprung disease type 2 (HSCR2) [MIM:600155]; also known as aganglionic megacolon (MGC). HSCR2 is a congenital disorder 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.
Defects in EDNRB are the cause of ABCD syndrome (ABCDS) [MIM:600501]. ABCD syndrome is 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.
Similarity:
Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily.
Database links:
Entrez Gene: 408082 Chicken
Entrez Gene: 281750 Cow
Entrez Gene: 100033875 Horse
Entrez Gene: 1910 Human
Entrez Gene: 13618 Mouse
Entrez Gene: 100009477 Rabbit
Entrez Gene: 50672 Rat
Omim: 131244 Human
SwissProt: P28088 Cow
SwissProt: O62709 Horse
SwissProt: P24530 Human
SwissProt: P48302 Mouse
SwissProt: P35463 Pig
SwissProt: Q9N0W7 Rabbit
SwissProt: P21451 Rat
Unigene: 487 Cow
Unigene: 13045 Horse
Unigene: 82002 Human
Unigene: 229532 Mouse
Unigene: 27603 Pig
Unigene: 6857 Rabbit
Unigene: 11412 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|