Human Gene CARD9 (uc004chg.3) Description and Page Index
Description: Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 1, mRNA. RefSeq Summary (NM_052813): The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr9:139,257,441-139,268,133 Size: 10,693 Total Exon Count: 13 Strand: - Coding Region Position: hg19 chr9:139,258,754-139,266,530 Size: 7,777 Coding Exon Count: 12
ID:CARD9_HUMAN DESCRIPTION: RecName: Full=Caspase recruitment domain-containing protein 9; Short=hCARD9; FUNCTION: Activates NF-kappa-B via BCL10. SUBUNIT: Self-associates. CARD9 and BCL10 bind to each other by CARD-CARD interaction. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Highly expressed in spleen. Also detected in liver, placenta, lung, peripheral blood leukocytes and in brain. DISEASE: Defects in CARD9 are the cause of familial candidiasis type 2 (CANDF2) [MIM:212050]. Chronic mucocutaneous candidiasis is characterized by impaired clearance of fungal infections and results in colonization and infections of the mucosa or skin, predominantly with Candida albicans. CANDF2 is an autosomal recessive chronic mucocutaneous candidiasis. SIMILARITY: Contains 1 CARD domain.
Genetic Association Studies of Complex Diseases and Disorders
Colitis, Ulcerative Jeffrey C Barrett et al. Nature genetics 2009, Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region., Nature genetics.
Colitis, Ulcerative Dermot P B McGovern et al. Nature genetics 2010, Genome-wide association identifies multiple ulcerative colitis susceptibility loci., Nature genetics.
Colitis, Ulcerative Carl A Anderson et al. Nature genetics 2011, Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47., Nature genetics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H257
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0002223 stimulatory C-type lectin receptor signaling pathway GO:0002376 immune system process GO:0007249 I-kappaB kinase/NF-kappaB signaling GO:0009620 response to fungus GO:0032494 response to peptidoglycan GO:0032495 response to muramyl dipeptide GO:0032755 positive regulation of interleukin-6 production GO:0032760 positive regulation of tumor necrosis factor production GO:0032874 positive regulation of stress-activated MAPK cascade GO:0042493 response to drug GO:0042534 regulation of tumor necrosis factor biosynthetic process GO:0042981 regulation of apoptotic process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043330 response to exogenous dsRNA GO:0045076 regulation of interleukin-2 biosynthetic process GO:0045087 innate immune response GO:0045089 positive regulation of innate immune response GO:0045408 regulation of interleukin-6 biosynthetic process GO:0046330 positive regulation of JNK cascade GO:0050830 defense response to Gram-positive bacterium GO:0051607 defense response to virus