DGCR2

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]

Description

DiGeorge syndrome critical region gene 2

Tissue specificity

Low tissue specificity

Predicted location

Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

22 (19036282 - 19122454)

Ensembl ID

ENSG00000070413  (ver. 103.38)

Orthologs

-

UniProt

P98153

neXtProt

NX_P98153

Human splice variants

Protein structure