DGCR2

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DiGeorge syndrome critical region gene 2
Identifiers
Symbols DGCR2 ; DGS-C; IDD; LAN; SEZ-12
External IDs OMIM600594 MGI892866 HomoloGene31292 GeneCards: DGCR2 Gene
RNA expression pattern
PBB GE DGCR2 214198 s at tn.png
PBB GE DGCR2 202099 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9993 13356
Ensembl ENSG00000070413 ENSMUSG00000003166
UniProt P98153 P98154
RefSeq (mRNA) NM_001173533 NM_001109750
RefSeq (protein) NP_001167004 NP_001103220
Location (UCSC) Chr 22:
19.02 – 19.11 Mb
Chr 16:
17.84 – 17.89 Mb
PubMed search [1] [2]

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]


References[edit]

  1. ^ Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, O'Donnell H, Wilson D, Goodship 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2". 

Further reading[edit]

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