ID:EDNRB_HUMAN DESCRIPTION: RecName: Full=Endothelin B receptor; Short=ET-B; Short=ET-BR; AltName: Full=Endothelin receptor non-selective type; Flags: Precursor; 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. PTM: 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). 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. DISEASE: 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. SEQUENCE CAUTION: Sequence=BAD92435.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EDNRB"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ednrb/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 81321 - Family A G protein-coupled receptor-like
ModBase Predicted Comparative 3D Structure on P24530
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
