DGCR2

DGCR2
Identifiers
Aliases	DGCR2 , DGS-C, IDD, LAN, SEZ-12, 9930034O06Rik, Dgsc, Sez12, mKIAA0163, DiGeorge syndrome critical region gene 2
External IDs	OMIM: 600594; MGI: 892866; HomoloGene: 31292; GeneCards: DGCR2; OMA:DGCR2 - orthologs
Gene location (Human) Chr. Chromosome 22 (human) [1] Band 22q11.21 Start 19,036,282 bp [1] End 19,122,454 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16 A3|16 11.05 cM Start 17,657,346 bp [2] End 17,716,426 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in human penis nipple external globus pallidus lateral nuclear group of thalamus ventral tegmental area parotid gland superior vestibular nucleus hair follicle pons pars reticulata Top expressed in spermatid corneal stroma ventricular zone lacrimal gland dentate gyrus of hippocampal formation granule cell molar cerebellar cortex lip primary visual cortex dorsomedial hypothalamic nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function carbohydrate binding Cellular component integral component of membrane membrane Biological process animal organ morphogenesis cell adhesion cognition Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 16: 17.66 – 17.72 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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] DGCR2 is thought to interact with the Reelin complex to regulate corticogenesis. ^[8]

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".
8. Molinard-Chenu, Aude; Dayer, Alexandre (April 2018). "The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis". Biological Psychiatry. 83 (8): 692–706. doi: 10.1016/j.biopsych.2017.11.015 . PMID   29305086.

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. S2CID   101238.
• 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.

External links

• DGCR2 human gene location in the UCSC Genome Browser .
• DGCR2 human gene details in the UCSC Genome Browser .