DGCR2

From Wikipedia, the free encyclopedia

DiGeorge syndrome critical region gene 2

Identifiers

DGCR2; IDD; DGS-C; DKFZp686I1730; KIAA0163; LAN; SEZ-12

External IDs

OMIM: 600594 MGI: 892866 HomoloGene: 31292

Gene ontology
Molecular Function:	• receptor activity • protein binding • sugar binding
Cellular Component:	• membrane • integral to membrane
Biological Process:	• cell adhesion • organ morphogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

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.^[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]

[edit] References

^ ^a ^b Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2.

[edit] 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:10.1006/bbrc.1996.0712. 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:10.1073/pnas.242603899. 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:10.1101/gr.2334104. 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:10.1186/gb-2004-5-10-r84. 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:10.1101/gr.2596504. 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:10.1101/gr.4039406. 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:10.1007/s00439-006-0195-0. 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:10.1016/j.cell.2006.09.026. PMID 17081983.