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Description for Protein DGCR2

DiGeorge syndrome critical region gene 2
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • LECTIN_C: C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
  • VWC: von Willebrand factor (vWF) type C domain
  • LDLA: Low-density lipoprotein receptor domain class A
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    DiGeorge syndrome critical region gene 2; Integral membrane protein delated in DiGeorge syndrome; IDD; DGS-C; LAN; SEZ-12; KIAA0163
    Approved Symbol:
    DGCR2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 08999 Entrez Gene ID: 9993 OMIM ID: 600594 Swissprot Accession: P98153; Q8IWC8;