DGCR2, DiGeorge syndrome critical region gene 2

DGCR2, DiGeorge syndrome critical region gene 2

• 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]

• Gene Synonyms (integral membrane protein DGCR2/IDD, DiGeorge syndrome critical region protein 2, integral membrane protein deleted in DiGeorge syndrome, DGS-C, IDD, LAN, SEZ-12,)
• NCBI Gene ID: 9993
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P98153
  UNIPROT ID#>>B7Z3T5
  UNIPROT ID#>>Q5CZ70
  UNIPROT ID#>>Q8IWC8
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

DiGeorge syndrome critical region gene 2 interacts with:

• 5-hydroxytryptamine receptor 3C
  ADAM metallopeptidase domain 33
  SMAD specific E3 ubiquitin protein ligase 2
  WW domain containing E3 ubiquitin protein ligase 2
  zinc activated ion channel

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.