Endotelinski receptor tip B

Endotelinski receptor tip B
Identifikatori
Simboli	EDNRB; ABCDS; ETB; ETRB; HSCR; HSCR2
Vanjski ID	OMIM: 131244 MGI: 102720 HomoloGene: 89 IUPHAR: ETB GeneCards: EDNRB Gene
Ontologija gena Molekularna funkcija • aktivnost rodopsinu-sličnog receptora • aktivnost endotelin-B receptora • receptorska aktivnost • proteinsko vezivanje Celularna komponenta • ćelijska membrana • integralno sa ćelijskom membranom Biološki proces • neuralna krest ćelijska migracija • pH regulacija • negativna regulacija adenilat ciklazne aktivnosti • G-protein signalizacija, spregnuta sa IP3 sekundarnim glasnikom (aktivacija fosfolipaze C) • razvoj perifernog nervnog sistema • senzorna percepcija zvuka • regulacija krvnog pritiska • melanocitna diferencijacija • pigmentacija tokom razvoja
Pregled RNK izražavanja
podaci
Ortolozi
Vrsta	Čovek	Miš
Entrez	1910	13618
Ensembl	ENSG00000136160	ENSMUSG00000022122
UniProt	P24530	Q8K1V9
RefSeq (mRNA)	NM_000115	NM_007904
RefSeq (protein)	NP_000106	NP_031930
Lokacija (UCSC)	Chr 13: 77.37 - 77.39 Mb	Chr 14: 102.7 - 102.73 Mb
PubMed pretraga	[1]	[2]

Endotelinski receptor tip B, ili ET_B je protein koji je kod ljudi kodiran EDNRB genom.

Funkcija

Endotelinski receptor tip B je G protein spregnuti receptor koji aktivira sistem fosfatidilinozitol-kalcijumskih sekundarnih glasnika. Njegov ligand, endotelin, se sastoji od familije sa tri potentna vazoaktivna peptida: ET₁, ET₂, i ET₃. Splajsna varijanta, imenovana SVR, je poznata; sekvenca ETB-SVR receptora je identična sa ETRB izuzev intracelularnog C-terminalnog domena. Dok obe splajsne varijante vezuju ET₁, one imaju različite response nakon vezivana, što sugerira da one različito funkcionišu.

Dodatna literatura

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• Vane J (1991). . „Endothelins come home to roost.”. Nature. 348 (6303): 673. PMID 2175394. doi:10.1038/348673a0. 
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• Puffenberger EG; Hosoda K; Washington SS (1995). . „A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.”. Cell. 79 (7): 1257—66. PMID 8001158. doi:10.1016/0092-8674(94)90016-7. 
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• Hofstra RM; Osinga J; Tan-Sindhunata G (1996). . „A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).”. Nat. Genet.. 12 (4): 445—7. PMID 8630503. doi:10.1038/ng0496-445. 
• Attié T; Till M; Pelet A (1996). . „Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.”. Hum. Mol. Genet.. 4 (12): 2407—9. PMID 8634719. doi:10.1093/hmg/4.12.2407. 
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• Kusafuka T, Wang Y, Puri P (1997). . „Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.”. Hum. Mol. Genet.. 5 (3): 347—9. PMID 8852658. doi:10.1093/hmg/5.3.347. 
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Spoljašnje veze

• „Endothelin Receptors: ET_B”. IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. Архивирано из оригинала 25. 10. 2021. г..