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endothelin B receptor; ET-B; endothelin receptor non-selective type (EDNRB, ETRB)
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: cell membrane
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
a) Waardenburg syndrome type IV
b) Hirschsprung disease type 2
c) ABCD syndrome
General
endothelin receptor
Properties
SIZE: entity length = 442 aa
MW = 50 kD
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-26}
exoplasmic domain {27-101}
MOTIF: N-glycosylation site {N59}
transmembrane domain {102-126}
cytoplasmic loop {127-137}
transmembrane domain {138-163}
exoplasmic loop {164-175}
MOTIF: cysteine residue {C174}
MODIFICATION: cysteine residue {C255}
transmembrane domain {176-197}
cytoplasmic loop {198-218}
transmembrane domain {219-243}
exoplasmic loop {244-271}
MOTIF: cysteine residue {C255}
MODIFICATION: cysteine residue {C174}
transmembrane domain {272-296}
cytoplasmic loop {297-324}
transmembrane domain {325-350}
exoplasmic loop {351-362}
transmembrane domain {363-389}
cytoplasmic domain {390-442}
MOTIF: cysteine residue {C402}
MODIFICATION: palmitate
COMPARTMENT: membrane
cysteine residue {C403}
MODIFICATION: palmitate
COMPARTMENT: membrane
cysteine residue {C405}
MODIFICATION: palmitate
COMPARTMENT: membrane
Database Correlations
OMIM correlations
MORBIDMAP 131244
UniProt P24530
Pfam PF00001
Entrez Gene 1910
Kegg hsa:1910
References
- UniProt :accession P24530
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=EDNRB
- NIEHS SNPs
http://egp.gs.washington.edu/data/ednrb/