Aliases for DGCR2 Gene
External Ids for DGCR2 Gene
Previous GeneCards Identifiers for DGCR2 Gene
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]
GeneCards Summary for DGCR2 Gene
DGCR2 (DiGeorge Syndrome Critical Region Gene 2) is a Protein Coding gene. Diseases associated with DGCR2 include Digeorge Syndrome and Hypoparathyroidism-Deafness-Renal Disease Syndrome. GO annotations related to this gene include carbohydrate binding.
UniProtKB/Swiss-Prot for DGCR2 Gene
Putative adhesion receptor, that could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration.