Recombinant Human Caspase recruitment domain-containing protein 14 (CARD14), partial

1. Results identified RNF7 to interact with CARMA2 regulating its NF-kappaB-activating capacity. Mechanistically, RNF7 influences CARMA2 signaling by regulating the ubiquitination state of MALT1 and the NF-kappaB-regulatory molecule NEMO. Interestingly, CARMA2short (CARMA2sh) mutants associated with psoriasis susceptibility escape the negative control exerted by RNF7. PMID: 29194363
2. The serine/threonine kinase ULK2 binds to and phosphorylates CARMA2sh. PMID: 28230860
3. MALT1 deficiency or pharmacological inhibition of MALT1 catalytic activity inhibits pathogenic mutant CARD14-induced cytokine and chemokine expression in human primary keratinocytes. PMID: 27113748
4. CARD14/MALT1-mediated signaling in keratinocytes has a role in psoriasis [review] PMID: 27939769
5. The results indicate that the common CARD14 p.Arg820Trp variant might have a significant effect on the response to anti-TNF therapies among patients with psoriasis. In addition, rare CARD14 missense variants could also predispose to a better response. PMID: 26854129
6. Our findings, combined with the published literature, suggest that Pityriasis Rubra Pilaris Type V, both familial and sporadic, can be caused by CARD14 mutations. PMID: 27760266
7. Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NF-kappaB activation PMID: 27071417
8. genetic evidence suggests association of the CARD14 single nucleotide polymorphism rs11652075 and other rare mutations in this gene with psoriasis. To assess whether combined data support the relationship between CARD14 rs11652075 and susceptibility to this disease, we conducted a meta-analysis. Our results demonstrate a significant association between the CARD14 rs11652075 polymorphism and psoriasis. PMID: 27706581
9. SNP c.C2458T may have significant effects on heritability of psoriasis vulgaris in our Chinese population. The CC genotype was more common in familial cases than in sporadic cases. PMID: 26249641
10. The authors observations provide further insights into the genetics of psoriasis and functional information on novel CARD14 mutational variants seen in cases from Tunisia and other populations. PMID: 26358359
11. Genetic interactions of SNPs in CARD14, SENP1 and VEGFA might represent a functional mechanism in the pathogenesis of high altitude polycythemia. PMID: 26852650
12. We found five rare mutations and four of them are annotated or reported. Only the variant (c.1291C>G) has not been reported and annotated, but the variant was also found in controls. None of the new definite variants were pathogenic PMID: 26982778
13. analysis of 105 individuals with generalized pustular psoriasis (GPP) identified a low-frequency variant (p.Asp176His) that causes constitutive CARD14 oligomerization PMID: 26203641
14. CARD14 protein missense mutation found in patients diagnosed with psoriasis. PMID: 25989471
15. no definite causative genetic mutation in CARD14 as identified in familial pityriasis rubra pilaris after screening 8 non-familial patients of type I, type III and type IV pityriasis rubra pilaris PMID: 24577624
16. The study identified the DEP domain-containing protein DEPDC7 as cellular binding partner of CARMA2 and CARMA3 proteins. PMID: 25541973
17. CARD14 mutation maybe responsible for activation of NF-kB signaling pathway in patients with pityriasis rubra pilaris. PMID: 25734815
18. Transfection of dermal ECs with psoriasis-associated CARD14 mutations resulted in increased expression of several chemokines, including CXCL10, IL-8, and CCL2. PMID: 25369198
19. Variant analysis of CARD14 in a Chinese Han population with psoriasis vulgaris and generalized pustular psoriasis shows that CARD14 may play a role in the pathogenesis of generalized pustular psoriasis. PMID: 24999592
20. Owing to the relatively small number of cases analysed in this study, we cannot rule out the possibility that CARD14 mutations may be an exceptional cause of sporadic pityriasis rubra pilaris, as previously found in sporadic psoriasis PMID: 24359224
21. Mutations and variants are causal or disease susceptibility factors of psoriasis vulgaris, generalized pustular psoriasis, or pityriasis rubra pilaris. [review] PMID: 24656634
22. Chromosome 17q25 harbors a susceptibility locus for psoriasis. Non-parametric linkage analysis revealed a linkage peak lying close to a novel cluster of genes from the immunoglobulin (Ig) superfamily. PMID: 12483297
23. Our results confirmed the published linkage with the PSORS1 locus, as well as the PSORS2 locus, which has not been previously shown in the Chinese population. PMID: 12709815
24. These results fail to support rs734232 as a psoriasis susceptibility factor in German psoriasis patients. PMID: 15654961
25. PSORS2 alleles are not susceptibility factors in arthritis psoriatic patients of Italian origin PMID: 16733365
26. Results show genetic heterogeneity of psoriasis in the Tunisian population, provide confirmatory evidence for a novel psoriasis locus at chromosome 2p12 and reveal a psoriasis family with a mutation at PSORS2. PMID: 23013406
27. Pityriasis rubra pilaris autosomal dominant family is an allelic disease to certain genetic forms of familial psoriasis. PMID: 23328365
28. CARD14 c.526G>C (p.Asp176His) may have a role in generalized pustular psoriasis with psoriasis vulgaris in Japanese patients PMID: 24476623
29. the association between SNP rs11652075 at the CARD14 gene and psoriasis PMID: 23905699
30. we identified three different heterozygous mutations in CARD14 causing familial pityriasis rubra pilaris. PMID: 22703878
31. Here, rare, highly penetrant mutations in CARD14 have been shown to cause psoriasis. PMID: 22521418
32. A range of NF-kB responses in the skin are mediated by CARD14 and that a subset of rare CARD14 variants leads to psoriasis and psoriatic arthritis. PMID: 22521419
33. Results demonstrate that multiple transcripts encoding several CARMA2 isoforms exist in vivo and regulate NF-kappaB activation and apoptosis. PMID: 21302310

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HGNC: 16446

OMIM: 173200

KEGG: hsa:79092

STRING: 9606.ENSP00000344549

UniGene: Hs.675480