gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Caspase recruitment domain family, member 14

Bimp2, CARD14
The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein shares a similar domain structure with CARD11 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. Two alternatively spliced variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: PrP, CAN, PSS-1, NF-kappaB, CARMA1
Papers on Bimp2
Interactions of the Immune System with Skin and Bone Tissue in Psoriatic Arthritis: A Comprehensive Review.
New
Maverakis et al., Sacramento, United States. In Clin Rev Allergy Immunol, Feb 2016
In addition, there are numerous other genetic susceptibility loci (LCE3, CARD14, NOS2, NFKBIA, PSMA6, ERAP1, TRAF3IP2, IL12RB2, IL23R, IL12B, TNIP1, TNFAIP3, TYK2) and geoepidemiologic factors that contribute to the wide variability seen in psoriasis.
Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.
New
Barker et al., Johor Bahru, Malaysia. In J Invest Dermatol, Dec 2015
Caspase recruitment family member 14 (CARD14, also known as CARMA2), is a scaffold protein that mediates NF-κB signal transduction in skin keratinocytes.
The immunogenetics of Psoriasis: A comprehensive review.
Review
New
Bowcock et al., New York City, United States. In J Autoimmun, Nov 2015
These genes span an array of functions that involve antigen presentation (HLA-Cw6, ERAP1, ERAP2, MICA), the IL-23 axis (IL12Bp40, IL23Ap19, IL23R, JAK2, TYK2), T-cell development and T-cells polarization (RUNX1, RUNX3, STAT3, TAGAP, IL4, IL13), innate immunity (CARD14, c-REL, TRAF3IP2, DDX58, IFIH1), and negative regulators of immune responses (TNIP1, TNFAIP3, NFKBIA, ZC3H12C, IL36RN, SOCS1).
CARD14 alterations in Tunisian psoriasis patients and further characterization in European cohorts.
New
Bowcock et al., Saint Louis, United States. In Br J Dermatol, Oct 2015
BACKGROUND: Rare highly penetrant gain of function mutations in caspase recruitment domain family, member 14 (CARD14) can lead to psoriasis, a chronic inflammatory disease of the skin and other organs.
Novel CARD11 Mutations in Human Cutaneous Squamous Cell Carcinoma Lead to Aberrant NF-κB Regulation.
New
South et al., Dundee, United Kingdom. In Am J Pathol, Sep 2015
Mutations in the CARD family member, CARD14, have been identified in patients with the inflammatory skin diseases psoriasis and pityriasis rubra pilaris.
CARD14 gene polymorphism c.C2458T (p.Arg820Trp) is associated with clinical features of psoriasis vulgaris in a Chinese cohort.
New
Zhu et al., Changchun, China. In J Dermatol, Sep 2015
UNASSIGNED: Genome-wide association studies have found the single nucleotide polymorphism (SNP) c.C2458T, at the caspase recruitment domain family member 14 (CARD14) gene, to be associated with psoriasis.
CARD14 Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasis.
New
Kabashima et al., Kyoto, Japan. In J Dermatol, Aug 2015
UNASSIGNED: Some familial cases of pityriasis rubra pilaris (PRP) have the CARD14 gene mutations that are also detected in familial psoriasis vulgaris.
Elderly-Onset Generalized Pustular Psoriasis without a Previous History of Psoriasis Vulgaris.
New
Sawamura et al., Hirosaki, Japan. In Case Rep Dermatol, May 2015
Mutation analysis revealed no significant mutations in IL36RN and CARD14.
The role of mechanical stress in the pathogenesis of spondyloarthritis and how to combat it.
Review
McGonagle et al., Gent, Belgium. In Best Pract Res Clin Rheumatol, 2014
Molecularly, the monogenic forms of SpA including caspase recruitment domain-containing protein 14 (CARD14) and IL36RN mutations have site-specific expression of mutated proteins in the skin, thus offering a direct molecular link between local inflammation-related pathway dysregulation and local stress or injury in disease causation.
The genetic background of generalized pustular psoriasis: IL36RN mutations and CARD14 gain-of-function variants.
Review
Sugiura, Nagoya, Japan. In J Dermatol Sci, 2014
Very recently, we also reported that CARD14 p.Asp176His, a gain-of-function variant, is a predisposing factor for GPP with PV; in contrast, the variant is not associated with GPP alone in the Japanese population.
A large-scale screen for coding variants predisposing to psoriasis.
Impact
Zhang et al., Hefei, China. In Nat Genet, 2014
We discovered two independent missense SNVs in IL23R and GJB2 of low frequency and five common missense SNVs in LCE3D, ERAP1, CARD14 and ZNF816A associated with psoriasis at genome-wide significance.
CARD14 expression in dermal endothelial cells in psoriasis.
Lowes et al., Bethesda, United States. In Plos One, 2013
Mutations in the caspase recruitment domain, family member 14 (CARD14) gene have recently been described in psoriasis patients, and explain the psoriasis susceptibility locus 2 (PSORS2).
Autoinflammatory pustular neutrophilic diseases.
Review
Cowen et al., Bethesda, United States. In Dermatol Clin, 2013
Monogenic diseases with pustular phenotypes are discussed, including deficiency of interleukin 1 receptor antagonist, deficiency of the interleukin 36 receptor antagonist, CARD14-associated pustular psoriasis, and pyogenic arthritis, pyoderma gangrenosum, and acne.
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Review
Goldbach-Mansky et al., Bethesda, United States. In Clin Immunol, 2013
The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) and 6. very rare conditions presenting with autoinflammation and immunodeficiency.
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.
Impact
Trembath et al., Ann Arbor, United States. In Nat Genet, 2012
Notably, they included candidate genes whose products are involved in innate host defense, including interferon-mediated antiviral responses (DDX58), macrophage activation (ZC3H12C) and nuclear factor (NF)-κB signaling (CARD14 and CARM1).
Familial pityriasis rubra pilaris is caused by mutations in CARD14.
GeneRIF
Sprecher et al., Tel Aviv-Yafo, Israel. In Am J Hum Genet, 2012
we identified three different heterozygous mutations in CARD14 causing familial pityriasis rubra pilaris.
PSORS2 is due to mutations in CARD14.
GeneRIF
Bowcock et al., Saint Louis, United States. In Am J Hum Genet, 2012
Here, rare, highly penetrant mutations in CARD14 have been shown to cause psoriasis.
Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.
GeneRIF
Bowcock et al., Saint Louis, United States. In Am J Hum Genet, 2012
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.
Alternative splicing of CARMA2/CARD14 transcripts generates protein variants with differential effect on NF-κB activation and endoplasmic reticulum stress-induced cell death.
GeneRIF
Stilo et al., Ariano Irpino, Italy. In J Cell Physiol, 2011
Results demonstrate that multiple transcripts encoding several CARMA2 isoforms exist in vivo and regulate NF-kappaB activation and apoptosis.
share on facebooktweetadd +1mail to friends