Biology:DGCR2
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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] DGCR2 is thought to interact with the Reelin complex to regulate corticogenesis.[4]
References
- ↑ "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. doi:10.1093/hmg/4.6.1027. PMID 7655455.
- ↑ "Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein". Biochem Biophys Res Commun 222 (1): 144–148. Jun 1996. doi:10.1006/bbrc.1996.0712. PMID 8630060.
- ↑ 3.0 3.1 "Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9993.
- ↑ Molinard-Chenu, Aude; Dayer, Alexandre (April 2018). "The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis" (in en). Biological Psychiatry 83 (8): 692–706. doi:10.1016/j.biopsych.2017.11.015. PMID 29305086.
Further reading
- "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. doi:10.1093/hmg/4.4.551. PMID 7633403.
- "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. doi:10.1093/dnares/3.1.17. PMID 8724849.
- "A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11". Hum. Mol. Genet. 5 (6): 789–800. 1996. doi:10.1093/hmg/5.6.789. PMID 8776594.
- "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–1332. 2004. doi:10.1101/gr.2334104. PMID 15231748.
- "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. 2005. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
- "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. doi:10.1007/s00439-006-0195-0. PMID 16783572.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–648. 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
External links
- DGCR2 human gene location in the UCSC Genome Browser.
- DGCR2 human gene details in the UCSC Genome Browser.
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