endothelin B receptor; ET-B; endothelin receptor non-selective type (EDNRB, ETRB)
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Function
- non-specific receptor for endothelin 1, 2, & 3
- mediates its action by association with G proteins that activate a phosphatidylinositol-Ca+2 second messenger system
Structure
- belongs to the G-protein coupled receptor 1 family
- palmitoylation of Cys-402, Cys-403 & Cys-405
Compartment
Alternative splicing
named isoforms=3; A,B C (delta-3)
Expression
- expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells
Pathology
- defects in EDNRB are a cause of
- Waardenburg syndrome type IV
- Hirschsprung disease type 2
- ABCD syndrome
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P24530.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=EDNRB
- ↑ NIEHS SNPs http://egp.gs.washington.edu/data/ednrb/
Database
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1910
- OMIM: https://mirror.omim.org/entry/131244
- OMIM: https://mirror.omim.org/entry/142623
- OMIM: https://mirror.omim.org/entry/277580
- OMIM: https://mirror.omim.org/entry/600155
- OMIM: https://mirror.omim.org/entry/600501
- UniProt: http://www.uniprot.org/uniprot/P24530.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1910