| 释义 |
- References
- Further reading
- External links
{{italics title}}{{Infobox_gene}}The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans.[1][2][3] Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome.[3] References 1. ^{{cite journal | vauthors = Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, O'Donnell H, Wilson D, Goodship J, Burn J | title = Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome | journal = Hum Mol Genet | volume = 4 | issue = 6 | pages = 1027–1033 | date = Oct 1995 | pmid = 7655455 | doi = 10.1093/hmg/4.6.1027 }}
2. ^{{cite journal | vauthors = Kajiwara K, Nagasawa H, Shimizu-Nishikawa K, Ookura T, Kimura M, Sugaya E | title = Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein | journal = Biochem Biophys Res Commun | volume = 222 | issue = 1 | pages = 144–148 | date = Jun 1996 | pmid = 8630060 | pmc = | doi = 10.1006/bbrc.1996.0712 }}
3. ^1 {{cite web | title = Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9993| accessdate = }}
Further reading {{refbegin | 2}}- {{cite journal | vauthors = Demczuk S, Aledo R, Zucman J, Delattre O, Desmaze C, Dauphinot L, Jalbert P, Rouleau GA, Thomas G, Aurias A | title = Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity | journal = Hum. Mol. Genet. | volume = 4 | issue = 4 | pages = 551–558 | year = 1995 | pmid = 7633403 | doi = 10.1093/hmg/4.4.551 }}
- {{cite journal | vauthors = Nagase T, Seki N, Ishikawa K, Tanaka A, Nomura N | title = 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 | journal = DNA Res. | volume = 3 | issue = 1 | pages = 17–24 | year = 1996 | pmid = 8724849 | doi = 10.1093/dnares/3.1.17 }}
- {{cite journal | vauthors = Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML | title = A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11 | journal = Hum. Mol. Genet. | volume = 5 | issue = 6 | pages = 789–800 | year = 1996 | pmid = 8776594 | doi = 10.1093/hmg/5.6.789 | citeseerx = 10.1.1.539.9441 }}
- {{cite journal | vauthors = Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM | title = Functional proteomics mapping of a human signaling pathway | journal = Genome Res. | volume = 14 | issue = 7 | pages = 1324–1332 | year = 2004 | pmid = 15231748 | pmc = 442148 | doi = 10.1101/gr.2334104 }}
- {{cite journal | vauthors = 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 | title = A genome annotation-driven approach to cloning the human ORFeome | journal = Genome Biol. | volume = 5 | issue = 10 | pages = R84 | year = 2005 | pmid = 15461802 | pmc = 545604 | doi = 10.1186/gb-2004-5-10-r84 }}
- {{cite journal | vauthors = Shifman S, Levit A, Chen ML, Chen CH, Bronstein M, Weizman A, Yakir B, Navon R, Darvasi A | title = A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia | journal = Hum. Genet. | volume = 120 | issue = 2 | pages = 160–170 | year = 2007 | pmid = 16783572 | doi = 10.1007/s00439-006-0195-0 }}
- {{cite journal | vauthors = Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M | title = Global, in vivo, and site-specific phosphorylation dynamics in signaling networks | journal = Cell | volume = 127 | issue = 3 | pages = 635–648 | year = 2006 | pmid = 17081983 | doi = 10.1016/j.cell.2006.09.026 }}
{{refend}} External links - {{UCSC genome browser|DGCR2}}
- {{UCSC gene details|DGCR2}}
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