Property Summary

NCBI Gene PubMed Count 37
Grant Count 14
R01 Count 14
Funding $3,574,349.21
PubMed Score 37.55
PubTator Score 54.57

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 2.000 0.000
ovarian cancer 1.100 0.000

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
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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
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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.
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