DGCR2, Official Symbol DGCR2provided by HGNC Official Full Name DiGeorge syndrome critical region gene 2provided by HGNC Primary source HGNC:HGNC:2845 See related Ensembl:ENSG00000070413 MIM:600594; AllianceGenome:HGNC:2845 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IDD; LAN; DGS-C; 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 See more Orthologs mouse all