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Identification
HMDB Protein ID HMDBP02537
Secondary Accession Numbers
  • 8035
Name Endothelin B receptor
Synonyms
  1. ET-B
  2. ET-BR
  3. Endothelin receptor non-selective type
Gene Name EDNRB
Protein Type Unknown
Biological Properties
General Function Involved in G-protein coupled receptor protein signaling pathway
Specific 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
Pathways Not Available
Reactions Not Available
GO Classification
Component
cell part
membrane part
intrinsic to membrane
integral to membrane
Function
receptor activity
molecular transducer activity
signal transducer activity
endothelin receptor activity
peptide receptor activity
peptide receptor activity, g-protein coupled
Process
signaling
signaling pathway
cell surface receptor linked signaling pathway
g-protein coupled receptor protein signaling pathway
Cellular Location
  1. Cell membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:1
Locus 13q22
SNPs EDNRB
Gene Sequence
>1329 bp
ATGCAGCCGCCTCCAAGTCTGTGCGGACGCGCCCTGGTTGCGCTGGTTCTTGCCTGCGGC
CTGTCGCGGATCTGGGGAGAGGAGAGAGGCTTCCCGCCTGACAGGGCCACTCCGCTTTTG
CAAACCGCAGAGATAATGACGCCACCCACTAAGACCTTATGGCCCAAGGGTTCCAACGCC
AGTCTGGCGCGGTCGTTGGCACCTGCGGAGGTGCCTAAAGGAGACAGGACGGCAGGATCT
CCGCCACGCACCATCTCCCCTCCCCCGTGCCAAGGACCCATCGAGATCAAGGAGACTTTC
AAATACATCAACACGGTTGTGTCCTGCCTTGTGTTCGTGCTGGGGATCATCGGGAACTCC
ACACTTCTGAGAATTATCTACAAGAACAAGTGCATGCGAAACGGTCCCAATATCTTGATC
GCCAGCTTGGCTCTGGGAGACCTGCTGCACATCGTCATTGACATCCCTATCAATGTCTAC
AAGCTGCTGGCAGAGGACTGGCCATTTGGAGCTGAGATGTGTAAGCTGGTGCCTTTCATA
CAGAAAGCCTCCGTGGGAATCACTGTGCTGAGTCTATGTGCTCTGAGTATTGACAGATAT
CGAGCTGTTGCTTCTTGGAGTAGAATTAAAGGAATTGGGGTTCCAAAATGGACAGCAGTA
GAAATTGTTTTGATTTGGGTGGTCTCTGTGGTTCTGGCTGTCCCTGAAGCCATAGGTTTT
GATATAATTACGATGGACTACAAAGGAAGTTATCTGCGAATCTGCTTGCTTCATCCCGTT
CAGAAGACAGCTTTCATGCAGTTTTACAAGACAGCAAAAGATTGGTGGCTGTTCAGTTTC
TATTTCTGCTTGCCATTGGCCATCACTGCATTTTTTTATACACTAATGACCTGTGAAATG
TTGAGAAAGAAAAGTGGCATGCAGATTGCTTTAAATGATCACCTAAAGCAGAGACGGGAA
GTGGCCAAAACCGTCTTTTGCCTGGTCCTTGTCTTTGCCCTCTGCTGGCTTCCCCTTCAC
CTCAGCAGGATTCTGAAGCTCACTCTTTATAATCAGAATGATCCCAATAGATGTGAACTT
TTGAGCTTTCTGTTGGTATTGGACTATATTGGTATCAACATGGCTTCACTGAATTCCTGC
ATTAACCCAATTGCTCTGTATTTGGTGAGCAAAAGATTCAAAAACTGCTTTAAGTCATGC
TTATGCTGCTGGTGCCAGTCATTTGAAGAAAAACAGTCCTTGGAGGAAAAGCAGTCGTGC
TTAAAGTTCAAAGCTAATGATCACGGATATGACAACTTCCGTTCCAGTAATAAATACAGC
TCATCTTGA
Protein Properties
Number of Residues 442
Molecular Weight 49643.3
Theoretical pI 9.05
Pfam Domain Function
Signals
  • 1-26
Transmembrane Regions
  • 102-126
  • 138-163
  • 176-197
  • 219-243
  • 272-296
  • 325-350
  • 363-389
Protein Sequence
>Endothelin B receptor
MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNA
SLARSLAPAEVPKGDRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNS
TLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKLLAEDWPFGAEMCKLVPFI
QKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGF
DIITMDYKGSYLRICLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEM
LRKKSGMQIALNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCEL
LSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSCLCCWCQSFEEKQSLEEKQSC
LKFKANDHGYDNFRSSNKYSSS
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID P24530
UniProtKB/Swiss-Prot Entry Name EDNRB_HUMAN
PDB IDs Not Available
GenBank Gene ID M74921
GeneCard ID EDNRB
GenAtlas ID EDNRB
HGNC ID HGNC:3180
References
General References
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  6. Bourgeois C, Robert B, Rebourcet R, Mondon F, Mignot TM, Duc-Goiran P, Ferre F: Endothelin-1 and ETA receptor expression in vascular smooth muscle cells from human placenta: a new ETA receptor messenger ribonucleic acid is generated by alternative splicing of exon 3. J Clin Endocrinol Metab. 1997 Sep;82(9):3116-23. [PubMed:9284755 ]
  7. Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH: A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet. 1996 Apr;12(4):445-7. [PubMed:8630503 ]
  8. Pingault V, Girard M, Bondurand N, Dorkins H, Van Maldergem L, Mowat D, Shimotake T, Verma I, Baumann C, Goossens M: SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Hum Genet. 2002 Aug;111(2):198-206. Epub 2002 Jul 6. [PubMed:12189494 ]
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  10. Elshourbagy NA, Korman DR, Wu HL, Sylvester DR, Lee JA, Nuthalaganti P, Bergsma DJ, Kumar CS, Nambi P: Molecular characterization and regulation of the human endothelin receptors. J Biol Chem. 1993 Feb 25;268(6):3873-9. [PubMed:8440682 ]
  11. Nakamuta M, Takayanagi R, Sakai Y, Sakamoto S, Hagiwara H, Mizuno T, Saito Y, Hirose S, Yamamoto M, Nawata H: Cloning and sequence analysis of a cDNA encoding human non-selective type of endothelin receptor. Biochem Biophys Res Commun. 1991 May 31;177(1):34-9. [PubMed:1710450 ]
  12. Ogawa Y, Nakao K, Arai H, Nakagawa O, Hosoda K, Suga S, Nakanishi S, Imura H: Molecular cloning of a non-isopeptide-selective human endothelin receptor. Biochem Biophys Res Commun. 1991 Jul 15;178(1):248-55. [PubMed:1648908 ]
  13. Sakamoto A, Yanagisawa M, Sakurai T, Takuwa Y, Yanagisawa H, Masaki T: Cloning and functional expression of human cDNA for the ETB endothelin receptor. Biochem Biophys Res Commun. 1991 Jul 31;178(2):656-63. [PubMed:1713452 ]
  14. Haendler B, Hechler U, Schleuning WD: Molecular cloning of human endothelin (ET) receptors ETA and ETB. J Cardiovasc Pharmacol. 1992;20 Suppl 12:S1-4. [PubMed:1282938 ]
  15. Arai H, Nakao K, Takaya K, Hosoda K, Ogawa Y, Nakanishi S, Imura H: The human endothelin-B receptor gene. Structural organization and chromosomal assignment. J Biol Chem. 1993 Feb 15;268(5):3463-70. [PubMed:8429023 ]
  16. Webb ML, Chao CC, Rizzo M, Shapiro RA, Neubauer M, Liu EC, Aversa CR, Brittain RJ, Treiger B: Cloning and expression of an endothelin receptor subtype B from human prostate that mediates contraction. Mol Pharmacol. 1995 Apr;47(4):730-7. [PubMed:7536888 ]
  17. Elshourbagy NA, Adamou JE, Gagnon AW, Wu HL, Pullen M, Nambi P: Molecular characterization of a novel human endothelin receptor splice variant. J Biol Chem. 1996 Oct 11;271(41):25300-7. [PubMed:8810293 ]
  18. Tsutsumi M, Liang G, Jones PA: Novel endothelin B receptor transcripts with the potential of generating a new receptor. Gene. 1999 Mar 4;228(1-2):43-9. [PubMed:10072757 ]
  19. Zaahl MG, du Plessis L, Warnich L, Kotze MJ, Moore SW: Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. Mol Cell Probes. 2003 Feb;17(1):49-54. [PubMed:12628594 ]
  20. Okamoto Y, Ninomiya H, Tanioka M, Sakamoto A, Miwa S, Masaki T: Palmitoylation of human endothelinB. Its critical role in G protein coupling and a differential requirement for the cytoplasmic tail by G protein subtypes. J Biol Chem. 1997 Aug 22;272(34):21589-96. [PubMed:9261180 ]
  21. Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A: A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell. 1994 Dec 30;79(7):1257-66. [PubMed:8001158 ]
  22. Attie T, Till M, Pelet A, Amiel J, Edery P, Boutrand L, Munnich A, Lyonnet S: Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum Mol Genet. 1995 Dec;4(12):2407-9. [PubMed:8634719 ]
  23. Auricchio A, Casari G, Staiano A, Ballabio A: Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum Mol Genet. 1996 Mar;5(3):351-4. [PubMed:8852659 ]
  24. Amiel J, Attie T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, Simeoni J, Flori E, Nihoul-Fekete C, Munnich A, Lyonnet S: Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet. 1996 Mar;5(3):355-7. [PubMed:8852660 ]
  25. Fuchs S, Amiel J, Claudel S, Lyonnet S, Corvol P, Pinet F: Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling. Mol Med. 2001 Feb;7(2):115-24. [PubMed:11471546 ]
  26. Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM: ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. Am J Med Genet. 2002 Mar 15;108(3):223-5. [PubMed:11891690 ]