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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for DGCR2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID9993
Official gene symbolDGCR2
Full nameDiGeorge syndrome critical region gene 2
Aliases,DGS-C,DKFZp686I1730,IDD,KIAA0163,LAN,SEZ-12,
Gene summaryDeletions 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. Alternative splicing results in multiple transcript variants.
LocationChromosome: 22   Locus: 22q11.21
Gene position19109967 - 19023795  Map Viewer
Gene orientationminus
Gene size86173 bp
Gene sequence
OMIM ID600594