DGCR2

Chr 22

DiGeorge syndrome critical region gene 2

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

NCBI Gene: 9993 ENSG00000070413 UniProt: P98153 OMIM: 600594

The protein functions as a putative adhesion receptor involved in cell-cell and cell-matrix interactions required for normal cell differentiation and migration. Mutations cause DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome, affecting cardiac, craniofacial, and immunological development. These conditions follow an autosomal dominant inheritance pattern and are part of the 22q11.2 deletion syndrome spectrum.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.88

LOEUF

GOF

Mechanism· predicted