DGCR2

The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans.[5][6][7]

DGCR2
Identifiers
AliasesDGCR2, DGS-C, IDD, LAN, SEZ-12, 9930034O06Rik, Dgsc, Sez12, mKIAA0163, DiGeorge syndrome critical region gene 2
External IDsOMIM: 600594 MGI: 892866 HomoloGene: 31292 GeneCards: DGCR2
Gene location (Human)
Chr.Chromosome 22 (human)[1]
Band22q11.21Start19,036,282 bp[1]
End19,122,454 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

9993

13356

Ensembl

ENSG00000070413

ENSMUSG00000003166

UniProt

P98153

P98154

RefSeq (mRNA)

NM_001173533
NM_001173534
NM_001184781
NM_005137

NM_001109750
NM_010048

RefSeq (protein)

NP_001167004
NP_001167005
NP_001171710
NP_005128

NP_001103220
NP_034178

Location (UCSC)Chr 22: 19.04 – 19.12 MbChr 16: 17.84 – 17.9 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

References
  1. GRCh38: Ensembl release 89: ENSG00000070413 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000003166 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, O'Donnell H, Wilson D, Goodship J, Burn J (Oct 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): 1027–1033. doi:10.1093/hmg/4.6.1027. PMID 7655455.
  6. Kajiwara K, Nagasawa H, Shimizu-Nishikawa K, Ookura T, Kimura M, Sugaya E (Jun 1996). "Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein". Biochem Biophys Res Commun. 222 (1): 144–148. doi:10.1006/bbrc.1996.0712. PMID 8630060.
  7. "Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2".

Further reading
  • Demczuk S, Aledo R, Zucman J, Delattre O, Desmaze C, Dauphinot L, Jalbert P, Rouleau GA, Thomas G, Aurias A (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): 551–558. doi:10.1093/hmg/4.4.551. PMID 7633403.
  • Nagase T, Seki N, Ishikawa K, Tanaka A, Nomura N (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. doi:10.1093/dnares/3.1.17. PMID 8724849.
  • Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML (1996). "A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11". Hum. Mol. Genet. 5 (6): 789–800. CiteSeerX 10.1.1.539.9441. doi:10.1093/hmg/5.6.789. PMID 8776594.
  • Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–1332. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
  • 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 (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
  • Shifman S, Levit A, Chen ML, Chen CH, Bronstein M, Weizman A, Yakir B, Navon R, Darvasi A (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): 160–170. doi:10.1007/s00439-006-0195-0. PMID 16783572.
  • Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983.


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