| Entrez gene ID | | 9993 |
| Official gene symbol | | DGCR2 |
| Full name | | DiGeorge syndrome critical region gene 2 |
| Aliases | | ,DGS-C,DKFZp686I1730,IDD,KIAA0163,LAN,SEZ-12, |
| Gene summary | | 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. Alternative splicing results in multiple transcript variants. |
| Location | | Chromosome: 22 Locus: 22q11.21 |
| Gene position | | 19109967 - 19023795 Map Viewer |
| Gene orientation | | minus |
| Gene size | | 86173 bp |
| Gene sequence |
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| OMIM ID | | 600594 |
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