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MGP000910

UniProt Annotations

Entry Information
Gene Nameendothelin receptor type B
Protein EntryEDNRB_HUMAN
UniProt IDP24530
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=A; IsoId=P24530-1; Sequence=Displayed; Name=B; IsoId=P24530-2; Sequence=VSP_001879; Name=C; Synonyms=Delta-3; IsoId=P24530-3; Sequence=VSP_001878; Note=Ref.10 (AAD24541) sequence is in conflict in positions: 79:SGHRTP->RPPDA. {ECO:0000305};
DiseaseABCD syndrome (ABCDS) [MIM:600501]: 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. {ECO:0000269|PubMed:11891690}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseHirschsprung disease 2 (HSCR2) [MIM:600155]: 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. {ECO:0000269|PubMed:8001158, ECO:0000269|PubMed:8630503, ECO:0000269|PubMed:8852659, ECO:0000269|PubMed:8852660}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseWaardenburg syndrome 4A (WS4A) [MIM:277580]: 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). {ECO:0000269|PubMed:12189494, ECO:0000269|PubMed:8634719}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionNon-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. {ECO:0000269|PubMed:7536888}.
InteractionP05305:EDN1; NbExp=2; IntAct=EBI-6624656, EBI-715181;
PtmPalmitoylation of Cys-402 was confirmed by the palmitoylation of Cys-402 in a deletion mutant lacking both Cys-403 and Cys-405. {ECO:0000269|PubMed:9261180}.
Sequence CautionSequence=BAD92435.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily. {ECO:0000255|PROSITE-ProRule:PRU00521}.
Subcellular LocationCell membrane; Multi-pass membrane protein.
Tissue SpecificityExpressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells. {ECO:0000269|PubMed:9284755}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ednrb/";
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