CARD8 Chromosome 19
Caspase recruitment domain family member 8
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What This Gene Does
The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
Gene Info
Gene Group
Caspase recruitment domain containing
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000105483
Associated Conditions (2)
CARD8-related disorder
Inflammatory bowel disease 30
Key Variants
RS138051424
Conflicting classifications of pathogenicity
CARD8-related disorder, CARD8-related disorder
Health Risk
RS138177358
Conflicting classifications of pathogenicity
CARD8-related disorder, CARD8-related disorder
Health Risk
RS183473284
Conflicting classifications of pathogenicity
Health Risk
RS201361713
Conflicting classifications of pathogenicity
Health Risk
RS753299915
Likely pathogenic
Inflammatory bowel disease 30, Inflammatory bowel disease 30
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138051424 | Health Risk | Conflicting classifications of pathogenicity | CARD8-related disorder, CARD8-related disorder |
| RS138177358 | Health Risk | Conflicting classifications of pathogenicity | CARD8-related disorder, CARD8-related disorder |
| RS183473284 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201361713 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753299915 | Health Risk | Likely pathogenic | Inflammatory bowel disease 30, Inflammatory bowel disease 30 |