Property Summary

NCBI Gene PubMed Count 37
PubMed Score 37.55
PubTator Score 54.57

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count P-value
ovarian cancer 8491 2.3e-07
Disease Target Count Z-score Confidence
Psoriatic arthritis 85 3.696 1.8

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 2.000 4.6e-04
ovarian cancer 1.100 2.3e-07

Gene RIF (26)

PMID Text
26982778 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
26852650 Genetic interactions of SNPs in CARD14, SENP1 and VEGFA might represent a functional mechanism in the pathogenesis of high altitude polycythemia.
26203641 analysis of 105 individuals with generalized pustular psoriasis (GPP) identified a low-frequency variant (p.Asp176His) that causes constitutive CARD14 oligomerization
25989471 CARD14 protein missense mutation found in patients diagnosed with psoriasis.
25734815 CARD14 mutation maybe responsible for activation of NF-kB signaling pathway in patients with pityriasis rubra pilaris.
25541973 The study identified the DEP domain-containing protein DEPDC7 as cellular binding partner of CARMA2 and CARMA3 proteins.
25369198 Transfection of dermal ECs with psoriasis-associated CARD14 mutations resulted in increased expression of several chemokines, including CXCL10, IL-8, and CCL2.
24999592 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.
24656634 Mutations and variants are causal or disease susceptibility factors of psoriasis vulgaris, generalized pustular psoriasis, or pityriasis rubra pilaris. [review]
24577624 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
24476623 CARD14 c.526G>C (p.Asp176His) may have a role in generalized pustular psoriasis with psoriasis vulgaris in Japanese patients
24359224 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
23905699 the association between SNP rs11652075 at the CARD14 gene and psoriasis
23328365 Pityriasis rubra pilaris autosomal dominant family is an allelic disease to certain genetic forms of familial psoriasis.
23013406 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.
22703878 we identified three different heterozygous mutations in CARD14 causing familial pityriasis rubra pilaris.
22521419 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.
22521418 Here, rare, highly penetrant mutations in CARD14 have been shown to cause psoriasis.
21302310 Results demonstrate that multiple transcripts encoding several CARMA2 isoforms exist in vivo and regulate NF-kappaB activation and apoptosis.
20237496 Observational study of gene-disease association. (HuGE Navigator)
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
16733365 PSORS2 alleles are not susceptibility factors in arthritis psoriatic patients of Italian origin
15654961 These results fail to support rs734232 as a psoriasis susceptibility factor in German psoriasis patients.
12709815 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.
12483297 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.

AA Sequence

MGELCRRDSALTALDEETLWEMMESHRHRIVRCICPSRLTPYLRQAKVLCQLDEEEVLHSPRLTNSAMRA      1 - 70
GHLLDLLKTRGKNGAIAFLESLKFHNPDVYTLVTGLQPDVDFSNFSGLMETSKLTECLAGAIGSLQEELN     71 - 140
QEKGQKEVLLRRCQQLQEHLGLAETRAEGLHQLEADHSRMKREVSAHFHEVLRLKDEMLSLSLHYSNALQ    141 - 210
EKELAASRCRSLQEELYLLKQELQRANMVSSCELELQEQSLRTASDQESGDEELNRLKEENEKLRSLTFS    211 - 280
LAEKDILEQSLDEARGSRQELVERIHSLRERAVAAERQREQYWEEKEQTLLQFQKSKMACQLYREKVNAL    281 - 350
QAQVCELQKERDQAYSARDSAQREISQSLVEKDSLRRQVFELTDQVCELRTQLRQLQAEPPGVLKQEART    351 - 420
REPCPREKQRLVRMHAICPRDDSDCSLVSSTESQLLSDLSATSSRELVDSFRSSSPAPPSQQSLYKRVAE    421 - 490
DFGEEPWSFSSCLEIPEGDPGALPGAKAGDPHLDYELLDTADLPQLESSLQPVSPGRLDVSESGVLMRRR    491 - 560
PARRILSQVTMLAFQGDALLEQISVIGGNLTGIFIHRVTPGSAADQMALRPGTQIVMVDYEASEPLFKAV    561 - 630
LEDTTLEEAVGLLRRVDGFCCLSVKVNTDGYKRLLQDLEAKVATSGDSFYIRVNLAMEGRAKGELQVHCN    631 - 700
EVLHVTDTMFQGCGCWHAHRVNSYTMKDTAAHGTIPNYSRAQQQLIALIQDMTQQCTVTRKPSSGGPQKL    701 - 770
VRIVSMDKAKASPLRLSFDRGQLDPSRMEGSSTCFWAESCLTLVPYTLVRPHRPARPRPVLLVPRAVGKI    771 - 840
LSEKLCLLQGFKKCLAEYLSQEEYEAWSQRGDIIQEGEVSGGRCWVTRHAVESLMEKNTHALLDVQLDSV    841 - 910
CTLHRMDIFPIVIHVSVNEKMAKKLKKGLQRLGTSEEQLLEAARQEEGDLDRAPCLYSSLAPDGWSDLDG    911 - 980
LLSCVRQAIADEQKKVVWTEQSPR                                                  981 - 1004
//

Text Mined References (39)

PMID Year Title
26982778 Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort.
26852650 2016 Interaction of CARD14, SENP1 and VEGFA polymorphisms on susceptibility to high altitude polycythemia in the Han Chinese population at the Qinghai-Tibetan Plateau.
26203641 2015 Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.
25989471 2015 Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.
25734815 2015 Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-?B.
25541973 2014 The Dishevelled, EGL-10 and pleckstrin (DEP) domain-containing protein DEPDC7 binds to CARMA2 and CARMA3 proteins, and regulates NF-?B activation.
25369198 2014 CARD14 expression in dermal endothelial cells in psoriasis.
24999592 2014 Variant analysis of CARD14 in a Chinese Han population with psoriasis vulgaris and generalized pustular psoriasis.
24656634 2014 The genetic background of generalized pustular psoriasis: IL36RN mutations and CARD14 gain-of-function variants.
24577624 2014 Genetic analysis of CARD14 in non-familial pityriasis rubra pilaris: a case series.
24476623 2014 CARD14 c.526G>C (p.Asp176His) is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort.
24359224 2014 Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris.
23905699 2013 SNP rs11652075 in the CARD14 gene as a risk factor for psoriasis (PSORS2) in a Spanish cohort.
23328365 2013 [Molecular identification of the PSORS2 locus: mutations and polymorphisms in CARD14 gene].
23013406 2013 Genome-wide linkage scan for psoriasis susceptibility loci in multiplex Tunisian families.
22703878 2012 Familial pityriasis rubra pilaris is caused by mutations in CARD14.
22521419 2012 Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.
22521418 2012 PSORS2 is due to mutations in CARD14.
21302310 2011 Alternative splicing of CARMA2/CARD14 transcripts generates protein variants with differential effect on NF-?B activation and endoplasmic reticulum stress-induced cell death.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16733365 2006 PSORS2 markers are not associated with psoriatic arthritis in the Italian population.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15654961 2005 Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohorts.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12709815 2003 Confirmation of PSORS psoriasis susceptibility loci in a Chinese population.
12483297 2003 Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11356195 2001 Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10 phosphorylation and NF-kappaB activation.
11278692 2001 CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B.
11259443 2001 Card10 is a novel caspase recruitment domain/membrane-associated guanylate kinase family member that interacts with BCL10 and activates NF-kappa B.
10647885 1999 A genome-wide search for genes predisposing to familial psoriasis by using a stratification approach.
8178173 1994 Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q.