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FLASH GENE
Symbol CARD14 contributors: mct - updated : 09-05-2012
HGNC name caspase recruitment domain family, member 14
HGNC id 16446
Corresponding disease
PRP pityriasis rubra pilaris
Location 17q25.3      Physical location : 78.152.280 - 78.182.851
Synonym name
  • CARD-containing MAGUK protein 2
  • bcl10-interacting maguk protein 2
  • card-maguk protein 2
  • Synonym symbol(s) BIMP2, CARMA2, FLJ38097
    DNA
    TYPE functioning gene
    STRUCTURE 30.57 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    MAPPING cloned Y linked N status provisional
    Physical map
    FLJ21865 17q25.3 endo-beta-N-acetylglucosaminidase LOC339162 17q25.3 similar to ataxin 2-binding protein 1 isoform 2; hexaribonucleotide binding protein 1 LOC388423 17 LOC388423 LOC201109 17q25.3 hypothetical LOC201109 LOC339221 17q25.3 Alkaline sphingomyelinase MGC10561 17q25.3 hypothetical protein MGC10561 CBX8 12p13.32 chromobox homolog 8 (Pc class homolog, Drosophila) CBX4 17q25.3 chromobox homolog 4 (Pc class homolog, Drosophila) MGC25062 LOC388424 17 similar to hypothetical protein FLJ20753 FLJ20753 17q25.3 hypothetical protein FLJ20753 GAA 17q25.2-q25.3 glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) DDX48 17q25.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 48 LOC388425 17 hypothetical gene supported by BC035394 CARD14 17q25 caspase recruitment domain family, member 14 SGSH 17q25.3 N-sulfoglucosamine sulfohydrolase (sulfamidase) SLC26A11 17q25 solute carrier family 26, member 11 KIAA1618 17q25.3 KIAA1618 protein KIAA1554 17q25.3 KIAA1554 protein FLJ35220 17q25.3 hypothetical protein FLJ35220 LOC388426 17 hypothetical gene supported by AK090819 NPTX1 17q25.2 neuronal pentraxin I LOC201259 17q25.3 similar to 60S ribosomal protein L32 raptor 17q25.3 raptor LOC390817 17 similar to 60S ribosomal protein L12 FLJ11749 17q25.3 hypothetical protein FLJ11749 LOC284180 17q25.3 hypothetical LOC284180 BAIAP2 17q25 BAI1-associated protein 2 LOC388427 17 LOC388427 LOC388428 17 hypothetical gene supported by AK126811 AZI1 17q25.3 hypothetical gene supported by AK126811 FLJ31528 17q25.3 hypothetical protein FLJ31528 LOC284184 17q25.3 hypothetical LOC284184 MGC15523 17q25.3 hypothetical protein MGC15523
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 splicing 3916 113.2 1004 - 2011 21302310
  • containing different 5' and 3' end regions which include in-frame start and stop codons compared to variant 2
  • 21 exons
  • 10 splicing 1648 48.4 434 localize in the cytosol 2011 21302310
  • CARMA2short (CARMA2sh)
  • lacking the 5' and 3' end regions present in variant 1, which include part of the N- and C-terminal coding regions
  • containing the CARD, coiled coil, and a PDZ domains, but lacking the SH3 and the GuK domains
  • interacts with TRAF2 and activates NFKB in a TRAF2-dependent manner
  • - splicing 2612 - 740 localize in the cytosol 2011 21302310
  • CARMA2cardless (CARMA2cl)
  • lacking the CARD domain and containing only a portion of the coiled coil domain and a linker region
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  predominantly
    Reproductivefemale systemplacenta  moderately Homo sapiens
    Respiratoryrespiratory tractlarynx  highly
    Skin/Tegumentskin   specific Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermisstratum granulosum  Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal CARD domain
  • a central coiled-coil domain, important in regulating inflammation
  • a SH3 and GuK domains
  • a C terminal tripartite domain (TRIM) comprised of a PDZ domain, SH3 homology domain and a MAGUK domains
  • HOMOLOGY
    interspecies ortholog to murine Card14
    intraspecies homolog to CARD11
    Homologene
    FAMILY
  • membrane-associated guanylate kinase (MAGUK) family, caspase recruitment domain family
  • Caspase recruitment domain (CARD)-containing proteins family (CARMA)
  • CATEGORY signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • acting as an activator of NFKB via BCL10 and IKK
  • stimulating the phosphorylation of BCL10
  • leading to NFKB activation
  • acting as a positive regulator of cell apoptosis
  • regulator of skin inflammation
  • mediates potentially an important conserved pathway that is triggered in response to disrupted homeostasis (due to injury, infection, etc.) of the skin
  • regulates NF-KB signaling
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
  • involved in NFKB signaling complexes
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BCL10, by CARD-CARD interaction
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PRP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    after a triggering event that can include epidermal injury, rare gain-of-function mutations in CARD14 initiate a process that includes inflammatory cell recruitment by keratinocytes, a cycle which is the hallmark of psoriasis
    Susceptibility
  • to Psoriasis (see PSORS2)
  • Variant & Polymorphism other
  • rs11652075 (p.Arg820Trp), and c.599G>A (p.Ser200Asn) were associated with psoriasis
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS