DGCR2

DGCR2
معین‌کننده‌ها
نام‌های دیگر	DGCR2, DGS-C, IDD, LAN, SEZ-12, 9930034O06Rik, Dgsc, Sez12, mKIAA0163, DiGeorge syndrome critical region gene 2
شناسه‌های بیرونی	OMIM: 600594 MGI: 892866 HomoloGene: 31292 GeneCards: DGCR2
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)[1]
End	17,898,562 bp[1]
الگوی گسترش RNA
	; ;
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• carbohydrate binding;
ترکیبات سلولی	• integral component of membrane; • membrane;
فرایند زیستی	• animal organ morphogenesis; • cell adhesion; • شناخت;
	Sources:آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	9993
	13356
	ENSG00000070413
	ENSMUSG00000003166
	P98153
	P98154
	NM_001173534، NM_001184781، NM_005137، NR_033674، XR_001755405، XR_001755406 NM_001173533، NM_001173534، NM_001184781، NM_005137، NR_033674، XR_001755405، XR_001755406
	NM_010048 NM_001109750، NM_010048
	NP_001167005، NP_001171710، NP_005128 NP_001167004، NP_001167005، NP_001171710، NP_005128
	NP_034178 NP_001103220، NP_034178
	ویکی‌داده
مشاهده/ویرایش Human	View/Edit Mouse

پروتئین سرتاسری غشاء سلولی DGCR2/IDD (انگلیسی: integral membrane protein DGCR2/IDD‎) یک پروتئین است که در انسان توسط ژن «DGCR2» کُدگذاری می‌شود.[4][5][6]

اهمیت بالینی

حذف‌شدگی در این ژن سبب بروز گسترهٔ وسیعی از اختلالات تکاملی جنین (به‌ویژه نشانگان دی جرج) می‌گردد.[6]

منابع

GRCm38: Ensembl release 89: ENSMUSG00000003166 - 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.
Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, O'Donnell H, Wilson D, Goodship J, Burn J (Oct 1995). "Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome". Hum Mol Genet. 4 (6): 1027–1033. doi:10.1093/hmg/4.6.1027. PMID 7655455.
Kajiwara K, Nagasawa H, Shimizu-Nishikawa K, Ookura T, Kimura M, Sugaya E (Jun 1996). "Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein". Biochem Biophys Res Commun. 222 (1): 144–148. doi:10.1006/bbrc.1996.0712. PMID 8630060.
"Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2".

مشارکت‌کنندگان ویکی‌پدیا. «DGCR2». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۱۵ سپتامبر ۲۰۱۹.

برای مطالعهٔ بیشتر

Demczuk S, Aledo R, Zucman J, Delattre O, Desmaze C, Dauphinot L, Jalbert P, Rouleau GA, Thomas G, Aurias A (1995). "Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity". Hum. Mol. Genet. 4 (4): 551–558. doi:10.1093/hmg/4.4.551. PMID 7633403.
Nagase T, Seki N, Ishikawa K, Tanaka A, Nomura N (1996). "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res. 3 (1): 17–24. doi:10.1093/dnares/3.1.17. PMID 8724849.
Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML (1996). "A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11". Hum. Mol. Genet. 5 (6): 789–800. CiteSeerX 10.1.1.539.9441. doi:10.1093/hmg/5.6.789. PMID 8776594.
Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–1332. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
Shifman S, Levit A, Chen ML, Chen CH, Bronstein M, Weizman A, Yakir B, Navon R, Darvasi A (2007). "A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia". Hum. Genet. 120 (2): 160–170. doi:10.1007/s00439-006-0195-0. PMID 16783572.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983.

پیوند به بیرون

مکان ژن انسانی DGCR2 در مرورگر ژنومی UCSC.
جزئیات ژن انسانی DGCR2 در مرورگر ژنومی UCSC.

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[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000003166 - 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.

[pmid7655455-4] Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, O'Donnell H, Wilson D, Goodship J, Burn J (Oct 1995). "Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome". Hum Mol Genet. 4 (6): 1027–1033. doi:10.1093/hmg/4.6.1027. PMID 7655455.

[pmid8630060-5] Kajiwara K, Nagasawa H, Shimizu-Nishikawa K, Ookura T, Kimura M, Sugaya E (Jun 1996). "Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein". Biochem Biophys Res Commun. 222 (1): 144–148. doi:10.1006/bbrc.1996.0712. PMID 8630060.

[entrez-6] "Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2".