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DiGeorge syndrome critical region gene 2
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| Identifiers | ||
| Symbol(s) | DGCR2; IDD; DGS-C; DKFZp686I1730; KIAA0163; LAN; SEZ-12 | |
| External IDs | OMIM: 600594 MGI: 892866 HomoloGene: 31292 | |
| RNA expression pattern | ||
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| Orthologs | ||
| Human | Mouse | |
| Entrez | 9993 | 13356 |
| Ensembl | ENSG00000070413 | n/a |
| Uniprot | P98153 | n/a |
| Refseq | NM_005137 (mRNA) NP_005128 (protein) |
NM_010048 (mRNA) NP_034178 (protein) |
| Location | Chr 22: 17.4 - 17.49 Mb | n/a |
| Pubmed search | [1] | [2] |
DiGeorge syndrome critical region gene 2, also known as DGCR2, is a human gene. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance [1]
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. [1]
References
Further reading
- Demczuk S, Aledo R, Zucman J, et al. (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): 551-8. PMID 7633403.
- Wadey R, Daw S, Taylor C, et al. (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): 1027-33. PMID 7655455.
- Kajiwara K, Nagasawa H, Shimizu-Nishikawa K, et al. (1996). "Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein. ". Biochem. Biophys. Res. Commun. 222 (1): 144-8. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 8630060.
- Nagase T, Seki N, Ishikawa K, et al. (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. PMID 8724849.
- Gong W, Emanuel BS, Collins J, et al. (1996). "A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. ". Hum. Mol. Genet. 5 (6): 789-800. PMID 8776594.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. ". Proc. Natl. Acad. Sci. U. S. A. 99 (26): 16899-903. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 12477932.
- Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway. ". Genome Res. 14 (7): 1324-32. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 15231748.
- Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome. ". Genome Biol. 5 (10): R84. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 15461802.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). ". Genome Res. 14 (10B): 2121-7. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 15489334.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. ". Genome Res. 16 (1): 55-65. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 16344560.
- Shifman S, Levit A, Chen ML, et al. (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): 160-70. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 16783572.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. ". Cell 127 (3): 635-48. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 17081983.