گیرنده اندوتلین B

از ویکی‌پدیا، دانشنامهٔ آزاد
پرش به ناوبری پرش به جستجو
EDNRB
معین‌کننده‌ها
AliasesEDNRB, ABCDS, ET-B, ET-BR, ETB, ETBR, ETRB, HSCR, HSCR2, WS4A, ETB1, endothelin receptor type B
شناسه‌های بیرونیOMIM: 131244 HomoloGene: 89 GeneCards: EDNRB
RNA expression pattern
PBB GE EDNRB 204273 at fs.png

PBB GE EDNRB 204271 s at fs.png

PBB GE EDNRB 206701 x at fs.png
More reference expression data
هم‌ساخت‌شناسی
گونه‌هاانسانموش
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001122659، NM_001201397، NM_003991، NR_047024 NM_000115، NM_001122659، NM_001201397، NM_003991، NR_047024

n/a

RefSeq (پروتئین)

NP_001116131، NP_001188326، NP_003982 NP_000106، NP_001116131، NP_001188326، NP_003982

n/a

موقعیت (UCSC)n/an/a
جستجوی PubMed[۱]n/a
ویکی‌داده
مشاهده/ویرایش Human

گیرنده اندوتلین B (انگلیسی: Endothelin B receptor) نام پروتئینی است که در انسان توسط ژن «EDNRB» کُد می‌شود.[۲]

این پروتئین نوعی گیرنده جفت‌شونده با پروتئین جی است که سیستم پیام‌رسانی ثانویهٔ وابسته به «فسفاتیدیل‌اینوزیتول-کلسیم» را فعال می‌کند.

جهش در ژنِ تولیدکنندهٔ این پروتئین منجر به بروز «سندرم واردنبرگ»[۳][۴] و «بیماری هیرشپرونگ نوع ۲»[۵] می‌شود.

منابع[ویرایش]

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  3. Sato-Jin K, Nishimura EK, Akasaka E, Huber W, Nakano H, Miller A, Du J, Wu M, Hanada K, Sawamura D, Fisher DE, Imokawa G (Apr 2008). "Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders". FASEB Journal. 22 (4): 1155–68. doi:10.1096/fj.07-9080com. PMID 18039926.
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  5. Tanaka H, Moroi K, Iwai J, Takahashi H, Ohnuma N, Hori S, Takimoto M, Nishiyama M, Masaki T, Yanagisawa M, Sekiya S, Kimura S (May 1998). "Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization". The Journal of Biological Chemistry. 273 (18): 11378–83. doi:10.1074/jbc.273.18.11378. PMID 9556633.

بیشتر بخوانید[ویرایش]

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