CARD9

CARD9

A gene on chromosome 9q34.3 that encodes a protein which activates NF-kappa-B by binding to BCL10 by a CARD–CARD interaction. It is highly expressed in the spleen, less so in the liver, placenta, lung, leukocytes and brain.

Molecular pathology
CARD9 mutations cause autosomal recessive chronic mucocutaneous candidiasis type 2.
References in periodicals archive ?
The adaptor protein CARD9 is required for innate immune responses to intracellular pathogens.
Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.
The messenger RNA (mRNA) expressions of toll-like receptor-2 (TLR2), TLR4, and CARD9 were moderately up-regulated in HaCaT within 6-h applications of both supernatants.
It is described that the mutation in the well-known PRRs and their intracellular signaling molecules, such as toll-like receptor-2 (TLR2), TLR4, and Dectin-1, as well as the intracellular signaling molecule of Dectin-1 CARD9, can increase the risk of fungus infection, highlighting the specific role of these host defense genes in human antifungal response.
As shown in [Figure 3]a-c, short periods of 6 h incubation with T1a or T [sub]XHB supernatant significantly enhanced the mRNA expression of TLR2, TLR4, and CARD9 in HaCaT cells.
As an adaptor of Dectin-1, [sup][10] CARD9 was elevated at mRNA levels after incubation for 6 h and 24 h with both supernatants.
sup][30] These results show the mRNA expression of IL-8 and Dectin-1 was only slightly up-regulated by the standard strain, even the elevated defense genes (Dectin-1, TLR2, TLR4, IL-8, CARD9, and DC-SIGN) were all decreased over 24 h.
3-q27 Change % of patients Candidate genes Loss 50-78 RB1 Loss 50-67 CDKN1B, ETV6 Loss 50-66 CDKN2A, CDKN2B, MTAP Loss 50-55 NOTCH, TRAF2, CARD9 Loss 21-44 SMAD5, MSH3, MCC, APC Loss 33-36 CYP1A1 Loss 29 PTPN23 Loss 22-29 CDKN2D, PRKCSH Loss 22 TP53 Loss 21 MAD1L1 Loss 11-21 PARK2 Table 3: Summary of the most frequent genomic alterations in BPDCN.
The Consortium is currently testing all novel loci in an independent set of 10,000 UC patients and a similar number of population controls to confirm these findings, but even the preliminary results provide "convincing evidence," he said, of associations to genes of biological significance to disease pathogenesis: TNFRSF14, JAK2, CARD9 and others.
A mutation can interfere with one link in that chain, a molecule called CARD9, the researchers found.