CARD11 gene

caspase recruitment domain family member 11

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Persistent polyclonal B-cell lymphocytosis
  • Immunodeficiency 11
  • B-cell expansion with NFKB and T-cell anergy

From UniProt:

Immunodeficiency 11 (IMD11): An autosomal recessive primary immunodeficiency characterized by normal numbers of T and B-lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B-cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T-cells and defects in T-cell function. [MIM:615206]

B-cell expansion with NFKB and T-cell anergy (BENTA): An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. [MIM:616452]

Cytogenetic Location: 7p22.2, which is the short (p) arm of chromosome 7 at position 22.2

Molecular Location: base pairs 2,906,075 to 3,043,945 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p22.2, which is the short (p) arm of chromosome 7 at position 22.2
  • BIMP3
  • CARMA1
  • IMD11
  • IMD11A
  • PPBL