DGCR2 explained

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. DGCR2 is thought to interact with the Reelin complex to regulate corticogenesis.^[4]

Further reading

• Demczuk S, Aledo R, Zucman J, Delattre O, Desmaze C, Dauphinot L, Jalbert P, Rouleau GA, Thomas G, Aurias A . 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 . 1995 . 7633403 . 10.1093/hmg/4.4.551 .
• Nagase T, Seki N, Ishikawa K, Tanaka A, Nomura N . 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 . 1996 . 8724849 . 10.1093/dnares/3.1.17 . free .
• Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML . A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11 . Hum. Mol. Genet. . 5 . 6 . 789–800 . 1996 . 8776594 . 10.1093/hmg/5.6.789 . 10.1.1.539.9441 .
• Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM . Functional proteomics mapping of a human signaling pathway . Genome Res. . 14 . 7 . 1324–1332 . 2004 . 15231748 . 442148 . 10.1101/gr.2334104 .
• 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 . A genome annotation-driven approach to cloning the human ORFeome . Genome Biol. . 5 . 10 . R84 . 2005 . 15461802 . 545604 . 10.1186/gb-2004-5-10-r84 . free .
• Shifman S, Levit A, Chen ML, Chen CH, Bronstein M, Weizman A, Yakir B, Navon R, Darvasi A . 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 . 2007 . 16783572 . 10.1007/s00439-006-0195-0 . 101238 .
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–648 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . free .

Notes and References

1. Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, O'Donnell H, Wilson D, Goodship J, Burn J . 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 . Oct 1995 . 7655455 . 10.1093/hmg/4.6.1027 .
2. Kajiwara K, Nagasawa H, Shimizu-Nishikawa K, Ookura T, Kimura M, Sugaya E . Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein . Biochem Biophys Res Commun . 222 . 1 . 144–148 . Jun 1996 . 8630060 . 10.1006/bbrc.1996.0712 .
3. Web site: Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2.
4. Molinard-Chenu. Aude. Dayer. Alexandre. April 2018. The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis. Biological Psychiatry. en. 83. 8. 692–706. 10.1016/j.biopsych.2017.11.015. 29305086 . free.