Full name: DiGeorge syndrome critical region gene 2

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: DGS-C; IDD; LAN; SEZ-12

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.[provided by RefSeq, May 2010]

Expression: Ubiquitous expression in brain (RPKM 24.0), skin (RPKM 23.8) and 25 other tissues

Gene size: 86127bp

Exon count: 10