EDNRB
entrez
1910
canonical
uniprot
P24530
canonical
ensembl
ENSG00000136160
resolver
ensp
ENSP00000366416
resolver
ensp
ENSP00000486202
resolver
ensp
ENSP00000493527
resolver
ensp
ENSP00000493895
resolver
genesymbol
EDNRB
resolver
genesymbol_syn
ETRB
resolver
hgnc
HGNC:3180
resolver
uniprot
A2A2Z8
resolver
uniprot
A8K3T4
resolver
uniprot
O15343
resolver
uniprot
Q59GB1
resolver
uniprot
Q5W0G9
resolver
uniprot
Q8NHM6
resolver
uniprot
Q8NHM7
resolver
uniprot
Q8NHM8
resolver
uniprot
Q8NHM9
resolver
uniprot
Q9UD23
resolver
uniprot
Q9UQK3
resolver
uniprot_entry
EDNRB_HUMAN
resolver
uniprot_sec
A2A2Z8
resolver
uniprot_sec
A8K3T4
resolver
uniprot_sec
O15343
resolver
uniprot_sec
Q59GB1
resolver
uniprot_sec
Q5W0G9
resolver
uniprot_sec
Q8NHM6
resolver
uniprot_sec
Q8NHM7
resolver
uniprot_sec
Q8NHM8
resolver
uniprot_sec
Q8NHM9
resolver
uniprot_sec
Q9UD23
resolver
uniprot_sec
Q9UQK3
resolver
amino_acid_sequence
MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGDRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKLLAEDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGFDIITMDYKGSYLRICLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKSGMQIALNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCELLSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSCLCCWCQSFEEKQSLEEKQSCLKFKANDHGYDNFRSSNKYSSS
uniprot
proteins
disease_involvement
DISEASE: Waardenburg 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 variants affecting the gene represented in this entry.; DISEASE: Hirschsprung 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:11471546, ECO:0000269|PubMed:28236341, ECO:0000269|PubMed:8001158, ECO:0000269|PubMed:8630503, ECO:0000269|PubMed:8852660}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: ABCD 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 variants affecting the gene represented in this entry.; DISEASE: Note=Heterozygous mutations in EDNRB may be responsible for Waardenburg syndrome 2, an autosomal dominant disorder characterized by sensorineural deafness and pigmentary disturbances. {ECO:0000269|PubMed:28236341}.
uniprot
proteins
function
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. {ECO:0000269|PubMed:7536888}.
uniprot
proteins
mass_dalton
49644
uniprot
proteins
mutagenesis
MUTAGEN 402; /note="C->S: Abolishes palmitoylation; when associated with S-403 and S-405."; /evidence="ECO:0000269|PubMed:9261180"; MUTAGEN 403; /note="C->S: Abolishes palmitoylation; when associated with S-402 and S-405."; /evidence="ECO:0000269|PubMed:9261180"; MUTAGEN 405; /note="C->S: Abolishes palmitoylation; when associated with S-402 and S-403."; /evidence="ECO:0000269|PubMed:9261180
uniprot
proteins
post_translational_modification
PTM: Palmitoylation 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}.
uniprot
proteins
protein_family
EDNRB sub-subfamily
uniprot
proteins
protein_family
Endothelin receptor subfamily
uniprot
proteins
protein_family
G protein-coupled receptor 1 family
uniprot
proteins
pubmed
10072757
uniprot
proteins
pubmed
10874640
uniprot
proteins
pubmed
11471546
uniprot
proteins
pubmed
11891690
uniprot
proteins
pubmed
12189494
uniprot
proteins
pubmed
12628594
uniprot
proteins
pubmed
1282938
uniprot
proteins
pubmed
1291713
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1648908
uniprot
proteins
pubmed
1710450
uniprot
proteins
pubmed
1713452
uniprot
proteins
pubmed
28236341
uniprot
proteins
pubmed
7536888
uniprot
proteins
pubmed
8001158
uniprot
proteins
pubmed
8429023
uniprot
proteins
pubmed
8440682
uniprot
proteins
pubmed
8630503
uniprot
proteins
pubmed
8634719
uniprot
proteins
pubmed
8810293
uniprot
proteins
pubmed
8852659
uniprot
proteins
pubmed
8852660
uniprot
proteins
pubmed
9261180
uniprot
proteins
pubmed
9284755
uniprot
proteins
pubmed
9359036
uniprot
proteins
pubmed
9760196
uniprot
proteins
sequence_length
442
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28236341}; Multi-pass membrane protein. Note=internalized after activation by endothelins. {ECO:0000269|PubMed:28236341}.
uniprot
proteins
transmembrane_region
TRANSMEM 102..126; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 138..163; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 176..197; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 219..243; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 272..296; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 325..350; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 363..389; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins