Aliases: BENTA, BIMP3, CARMA1, IMD11, PPBL
Chromosome No: 7
Chromosome Band: 7p22.2
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 8
Evidence score: 2
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Relevance to Autism
Two non-synonymous postzygotic mosaic mutations (PZMs) in the CARD11 gene were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (2/571 observed vs. 7/84,448 expected; hypergeometric P-value of 9.4E-04).
Molecular Function
The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD) (Entrez Gene). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10 (UniProt).
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