Gene: CARD11

Alternate names for this Gene: BENTA|BIMP3|CARMA1|IMD11|IMD11A|PPBL

Gene Summary: 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). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10.

Gene is located in Chromosome: 7

Location in Chromosome : 7p22.2

Description of this Gene: caspase recruitment domain family member 11

Type of Gene: protein-coding

rs7806365 in CARD11 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12535623 in CARD11 gene and Intracranial Aneurysm PMID 29531279 2018 Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population.

rs112119265 in CARD11 gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.