| Tbio | Caspase recruitment domain-containing protein 8 |
Inhibits NF-kappa-B activation. May participate in a regulatory mechanism that coordinates cellular responses controlled by NF-kappa-B transcription factor. May be a component of the inflammasome, a protein complex which also includes PYCARD, NALP2 and CASP1 and whose function would be the activation of proinflammatory caspases.
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]
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]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| astrocytoma | 1493 | 3.7578464310159E-20 |
| non-small cell lung cancer | 2798 | 2.15052878751016E-16 |
| ependymoma | 2514 | 3.73562608129327E-8 |
| osteosarcoma | 7933 | 4.57354368470914E-8 |
| pilocytic astrocytoma | 3086 | 2.35416592176373E-6 |
| malignant mesothelioma | 3163 | 5.52239707862754E-6 |
| ulcerative colitis | 2087 | 4.01733505872901E-5 |
| pediatric high grade glioma | 2712 | 6.97917095038429E-5 |
| psoriasis | 6685 | 7.64516364342956E-5 |
| glioblastoma | 5572 | 1.81338382497541E-4 |
| atypical teratoid / rhabdoid tumor | 4369 | 1.96390800216204E-4 |
| ovarian cancer | 8492 | 6.03761104761627E-4 |
| group 3 medulloblastoma | 2254 | 8.28533707565575E-4 |
| interstitial cystitis | 2299 | 0.00230562485815677 |
| primitive neuroectodermal tumor | 3031 | 0.00287964668477811 |
| adrenocortical carcinoma | 1427 | 0.00385186429089967 |
| sarcoidosis | 368 | 0.00559632470891032 |
| primary Sjogren syndrome | 789 | 0.0121272393438703 |
| lung cancer | 4473 | 0.0171007039961404 |
| subependymal giant cell astrocytoma | 2287 | 0.0259564990642209 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Crohn's disease | 304 | 3.435 | 1.7 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Masters-Allen syndrome | 1 | 5.327 | 2.7 |
| Disease | log2 FC | p |
|---|---|---|
| malignant mesothelioma | 1.700 | 0.000 |
| psoriasis | -2.400 | 0.000 |
| astrocytoma | 1.200 | 0.000 |
| glioblastoma | 1.500 | 0.000 |
| osteosarcoma | -2.584 | 0.000 |
| ependymoma | 1.400 | 0.000 |
| group 3 medulloblastoma | 1.400 | 0.001 |
| atypical teratoid / rhabdoid tumor | 1.200 | 0.000 |
| primitive neuroectodermal tumor | 1.300 | 0.003 |
| adrenocortical carcinoma | 1.064 | 0.004 |
| non-small cell lung cancer | -1.395 | 0.000 |
| lung cancer | -1.300 | 0.017 |
| sarcoidosis | 1.400 | 0.006 |
| interstitial cystitis | 1.500 | 0.002 |
| pediatric high grade glioma | 1.400 | 0.000 |
| pilocytic astrocytoma | 1.600 | 0.000 |
| primary Sjogren syndrome | 1.300 | 0.012 |
| subependymal giant cell astrocytoma | 1.191 | 0.026 |
| ulcerative colitis | 1.500 | 0.000 |
| ovarian cancer | 1.600 | 0.001 |
| PMID | Text |
|---|---|
| 26462578 | In patients with ileal, stenotic or fistulizing Crohn's disease, the mutant-type CARD8 rs2043211 polymorphism may generate a potentially protective effect. (Meta-analysis) |
| 26462562 | There is evidence for association of gout with functional variants in CARD8, IL1B and CD14. |
| 26283210 | A novel association between CARD8 and increased risk of surgical recurrence in Crohn's disease was observed and CARD8 could be a new marker for risk stratification and prevention of recurrent surgery. |
| 26095808 | Data indicate 3 variants in 3 novel genes myc target 1 protein (MYCT1), caspase recruitment domain family member 8 (CARD8) and zinc finger protein 543 (ZNF543), associated with familial IgA nephropathy (IgAN). |
| 25921775 | CARD8 might not play a role in the pathogenesis of Tourette syndrome in Chinese Han population |
| 25895569 | The polymorphism of rs2043211 in CARD8 may be a relevant host susceptibility factor for the development of preeclampsia in the Chinese Han population. |
| 25790751 | Patients carrying genotype TT of CARD8 rs2043211 polymorphism had higher triglycerides levels compared to those carrying the AA genotype. |
| 25564880 | genetic polymorphism is associated with susceptibility to Crohn's disease under the dominant model and homozygote contrast in the European population; meta-analysis |
| 24517500 | we show that CARD8 plays a role as a negative regulator of NLRP3 inflammasome through its binding with NLRP3 |
| 24385277 | ANRIL may increase the risk of ischemic stroke through regulation of the CARD8 pathway |
| More... |
MMRQRQSHYCSVLFLSVNYLGGTFPGDICSEENQIVSSYASKVCFEIEEDYKNRQFLGPEGNVDVELIDK 1 - 70 STNRYSVWFPTAGWYLWSATGLGFLVRDEVTVTIAFGSWSQHLALDLQHHEQWLVGGPLFDVTAEPEEAV 71 - 140 AEIHLPHFISLQGEVDVSWFLVAHFKNEGMVLEHPARVEPFYAVLESPSFSLMGILLRIASGTRLSIPIT 141 - 210 SNTLIYYHPHPEDIKFHLYLVPSDALLTKAIDDEEDRFHGVRLQTSPPMEPLNFGSSYIVSNSANLKVMP 211 - 280 KELKLSYRSPGEIQHFSKFYAGQMKEPIQLEITEKRHGTLVWDTEVKPVDLQLVAASAPPPFSGAAFVKE 281 - 350 NHRQLQARMGDLKGVLDDLQDNEVLTENEKELVEQEKTRQSKNEALLSMVEKKGDLALDVLFRSISERDP 351 - 420 YLVSYLRQQNL 421 - 431 //
| PMID | Year | Title |
|---|---|---|
| 26462578 | 2015 | Is the CARD8 rs2043211 polymorphism associated with susceptibility to Crohn's disease? A meta-analysis. |
| 26462562 | 2015 | Multiplicative interaction of functional inflammasome genetic variants in determining the risk of gout. |
| 26283210 | 2015 | CARD8 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease. |
| 26095808 | 2015 | Novel genes and variants associated with IgA nephropathy by co-segregating with the disease phenotypes in 10 IgAN families. |
| 25921775 | 2015 | rs2043211 polymorphism in CARD8 is not associated with Tourette syndrome in a family-based association study in the Chinese Han population. |
| 25895569 | 2015 | The Association of CARD8 rs2043211 Polymorphism with Preeclampsia in the Chinese Han Population. |
| 25790751 | 2015 | CARD8 rs2043211 polymorphism is associated with gout in a Chinese male population. |
| 25564880 | 2015 | Association between CARD8 rs2043211 polymorphism and inflammatory bowel disease: a meta-analysis. |
| 24517500 | 2014 | CARD8 is a negative regulator for NLRP3 inflammasome, but mutant NLRP3 in cryopyrin-associated periodic syndromes escapes the restriction. |
| 24385277 | 2014 | Regulation of CARD8 expression by ANRIL and association of CARD8 single nucleotide polymorphism rs2043211 (p.C10X) with ischemic stroke. |
| More... |
