BBS2

BBS2
المعهدات
الأسماء المستعارة	BBS2, BBS, RP74, Bardet-Biedl syndrome 2
معهدات خارجية	الوراثة المندلية البشرية عبر الإنترنت 606151 MGI: MGI:2135267 HomoloGene: 12122 GeneCards: 583
فهم الوجود الجيني
الوظيفة الجزيئية	• ‏GO:0001948 ربط بروتيني; • RNA polymerase II repressing transcription factor binding;
المكونات الخلوية	• سيتوبلازم; • ciliary basal body; • عصارة خلوية; • إسقاط خلية; • BBSome; • غشاء; • غشاء خلوي; • هدب; • microtubule organizing center; • ciliary membrane; • motile cilium; • هيكل خلوي; • stereocilium; • زغيبة; • إسقاط عصبون;
العمليات الحيوية	• protein localization to organelle; • protein localization; • regulation of cilium beat frequency involved in ciliary motility; • negative regulation of appetite by leptin-mediated signaling pathway; • response to stimulus; • leptin-mediated signaling pathway; • negative regulation of multicellular organism growth; • توسيع وعائي; • negative regulation of gene expression; • sperm axoneme assembly; • نموالغضروف; • adult behavior; • cell projection organization; • melanosome transport; • artery smooth muscle contraction; • positive regulation of multicellular organism growth; • cerebral cortex development; • protein transport; • photoreceptor cell maintenance; • response to leptin; • hippocampus development; • fat cell differentiation; • striatum development; • حاسة البصر; • brain morphogenesis; • Golgi to plasma membrane protein transport; • cilium morphogenesis; • non-motile cilium assembly; • protein localization to ciliary membrane;
	المصادر:Amigo / QuickGO
أورثولوج
	Q9BXC9
	Q9CWF6
	‏XR_933379، ‏NM_001377456، ‏NR_165293، ‏NR_165294، ‏NR_165295، ‏NR_165296، ‏NR_165297 NM_031885، ‏XR_933379، ‏NM_001377456، ‏NR_165293، ‏NR_165294، ‏NR_165295، ‏NR_165296، ‏NR_165297
	‏XM_006531304، ‏XR_001778463، ‏XM_030243735 NM_026116، ‏XM_006531304، ‏XR_001778463، ‏XM_030243735
	‏NP_001364385 NP_114091، ‏NP_001364385
	‏XP_006531367، ‏XP_030099595 NP_080392، ‏XP_006531367، ‏XP_030099595
	ويكي بيانات
اعرض/عدّل إنسان	اعرض/عدّل فأر

BBS2‏ (Bardet-Biedl syndrome 2) هوَ بروتين يُشَفر بواسطة جين BBS2 في الإنسان.

الوظيفة

هذا القسم فارغ أوغير مكتمل، ساهم بتحريره.

الأهمية السريرية

هذا القسم فارغ أوغير مكتمل، ساهم بتحريره.

المراجع

^ "Entrez Gene: BBS2 Bardet-Biedl syndrome 2". مؤرشف من الأصل في 05 ديسمبر 2010.
^ Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC (Apr 2001). "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)". Hum Mol Genet. 10 (8): 865–74. doi:10.1093/hmg/10.8.865. PMID 11285252.

قراءة متعمقة

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