گیرنده اندوتلین B

EDNRB
معین‌کننده‌ها
نام‌های دیگر	EDNRB, ABCDS, ET-B, ET-BR, ETB, ETBR, ETRB, HSCR, HSCR2, WS4A, ETB1, endothelin receptor type B
شناسه‌های بیرونی	OMIM: 131244 MGI: 102720 HomoloGene: 89 GeneCards: EDNRB
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)[1]
End	103,844,402 bp[1]
الگوی گسترش RNA
	; ; ; ;
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• endothelin receptor activity; • G protein-coupled receptor activity; • signal transducer activity; • peptide hormone binding; • GO:0001948 پیوند پروتئینی; • type 1 angiotensin receptor binding;
ترکیبات سلولی	• integral component of membrane; • پوشش هسته‌ای; • membrane; • integral component of plasma membrane; • لیپید رفت; • پوسته یاخته;
فرایند زیستی	• enteric smooth muscle cell differentiation; • negative regulation of adenylate cyclase activity; • positive regulation of protein phosphorylation; • peripheral nervous system development; • negative regulation of cellular protein metabolic process; • positive regulation of renal sodium excretion; • response to organic cyclic compound; • regulation of sensory perception of pain; • positive regulation of urine volume; • انقباض عروق; • positive regulation of cytosolic calcium ion concentration; • epithelial fluid transport; • پیرش; • اتساع عروق; • negative regulation of apoptotic process; • negative regulation of transcription by RNA polymerase II; • cGMP-mediated signaling; • regulation of fever generation; • جنین‌شناسی دستگاه عصبی مرکزی; • regulation of blood pressure; • phospholipase C-activating G protein-coupled receptor signaling pathway; • cell surface receptor signaling pathway; • enteric nervous system development; • vein smooth muscle contraction; • response to lipopolysaccharide; • macrophage chemotaxis; • response to pain; • neural crest cell migration; • positive regulation of cell population proliferation; • posterior midgut development; • developmental pigmentation; • pigmentation; • sensory perception of pain; • negative regulation of neuron maturation; • positive regulation of penile erection; • regulation of epithelial cell proliferation; • melanocyte differentiation; • cellular response to lipopolysaccharide; • regulation of pH; • ورارسانی پیام; • endothelin receptor signaling pathway; • calcium-mediated signaling; • G protein-coupled receptor signaling pathway; • response to endothelin;
	Sources:آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	1910
	13618
	ENSG00000136160
	ENSMUSG00000022122
	P24530
	P48302
	NM_001122659، NM_001201397، NM_003991، NR_047024 NM_000115، NM_001122659، NM_001201397، NM_003991، NR_047024
	NM_001276296، NM_007904، XM_006518515 NM_001136061، NM_001276296، NM_007904، XM_006518515
	NP_001116131، NP_001188326، NP_003982 NP_000106، NP_001116131، NP_001188326، NP_003982
	NP_001263225، NP_031930، XP_006518578 NP_001129533، NP_001263225، NP_031930، XP_006518578
	ویکی‌داده
مشاهده/ویرایش Human	View/Edit Mouse

گیرنده اندوتلین B (انگلیسی: Endothelin B receptor‎) نام پروتئینی است که در انسان توسط ژن «EDNRB» کُد می‌شود.[4]

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»[5][6] و «بیماری هیرشپرونگ نوع ۲»[7] می‌شود.

منابع

GRCm38: Ensembl release 89: ENSMUSG00000022122 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Cyr C, Huebner K, Druck T, Kris R (Nov 1991). "Cloning and chromosomal localization of a human endothelin ETA receptor". Biochemical and Biophysical Research Communications. 181 (1): 184–90. doi:10.1016/S0006-291X(05)81399-3. PMID 1659806.
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.
Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (Dec 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
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.

مشارکت‌کنندگان ویکی‌پدیا. «Endothelin B receptor». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۱۰ ژانویه ۲۰۱۸.

بیشتر بخوانید

Hofstra RM, Osinga J, Buys CH (1998). "Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype". European Journal of Human Genetics. 5 (4): 180–5. PMID 9359036.
Haendler B, Hechler U, Schleuning WD (1993). "Molecular cloning of human endothelin (ET) receptors ETA and ETB". Journal of Cardiovascular Pharmacology. 20 Suppl 12: S1–4. doi:10.1097/00005344-199204002-00002. PMID 1282938.
Arai H, Nakao K, Hosoda K, Ogawa Y, Nakagawa O, Komatsu Y, Imura H (1993). "[Molecular cloning of human endothelin receptors and their expression in vascular endothelial cells and smooth muscle cells]". Japanese Circulation Journal. 56 Suppl 5: 1303–7. doi:10.1253/jcj.56.supplementv_1303. PMID 1291713.
Ogawa Y, Nakao K, Arai H, Nakagawa O, Hosoda K, Suga S, Nakanishi S, Imura H (Jul 1991). "Molecular cloning of a non-isopeptide-selective human endothelin receptor". Biochemical and Biophysical Research Communications. 178 (1): 248–55. doi:10.1016/0006-291X(91)91806-N. PMID 1648908.
Cyr C, Huebner K, Druck T, Kris R (Nov 1991). "Cloning and chromosomal localization of a human endothelin ETA receptor". Biochemical and Biophysical Research Communications. 181 (1): 184–90. doi:10.1016/S0006-291X(05)81399-3. PMID 1659806.
Nakamuta M, Takayanagi R, Sakai Y, Sakamoto S, Hagiwara H, Mizuno T, Saito Y, Hirose S, Yamamoto M, Nawata H (May 1991). "Cloning and sequence analysis of a cDNA encoding human non-selective type of endothelin receptor". Biochemical and Biophysical Research Communications. 177 (1): 34–9. doi:10.1016/0006-291X(91)91944-8. PMID 1710450.
Sakamoto A, Yanagisawa M, Sakurai T, Takuwa Y, Yanagisawa H, Masaki T (Jul 1991). "Cloning and functional expression of human cDNA for the ETB endothelin receptor". Biochemical and Biophysical Research Communications. 178 (2): 656–63. doi:10.1016/0006-291X(91)90158-4. PMID 1713452.
Vane J (1991). "Endothelins come home to roost". Nature. 348 (6303): 673. doi:10.1038/348673a0. PMID 2175394.
Puffenberger EG, Kauffman ER, Bolk S, Matise TC, Washington SS, Angrist M, Weissenbach J, Garver KL, Mascari M, Ladda R (Aug 1994). "Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22". Human Molecular Genetics. 3 (8): 1217–25. doi:10.1093/hmg/3.8.1217. PMID 7987295.
Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A (Dec 1994). "A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease". Cell. 79 (7): 1257–66. doi:10.1016/0092-8674(94)90016-7. PMID 8001158.
Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE, Yanagisawa M (Dec 1994). "Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons". Cell. 79 (7): 1277–85. doi:10.1016/0092-8674(94)90018-3. PMID 8001160.
Arai H, Nakao K, Takaya K, Hosoda K, Ogawa Y, Nakanishi S, Imura H (Feb 1993). "The human endothelin-B receptor gene. Structural organization and chromosomal assignment". The Journal of Biological Chemistry. 268 (5): 3463–70. PMID 8429023.
Elshourbagy NA, Korman DR, Wu HL, Sylvester DR, Lee JA, Nuthalaganti P, Bergsma DJ, Kumar CS, Nambi P (Feb 1993). "Molecular characterization and regulation of the human endothelin receptors". The Journal of Biological Chemistry. 268 (6): 3873–9. PMID 8440682.
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 (Apr 1996). "A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)". Nature Genetics. 12 (4): 445–7. doi:10.1038/ng0496-445. PMID 8630503.
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[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000022122 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid_1659806-4] Cyr C, Huebner K, Druck T, Kris R (Nov 1991). "Cloning and chromosomal localization of a human endothelin ETA receptor". Biochemical and Biophysical Research Communications. 181 (1): 184–90. doi:10.1016/S0006-291X(05)81399-3. PMID 1659806.

[pmid_18039926-5] 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.

[pmid_19067971-6] Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (Dec 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.

[pmid9556633-7] 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.