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FLASH GENE
Symbol CARD14 contributors: mct - updated : 16-06-2021
HGNC name caspase recruitment domain family, member 14
HGNC id 16446
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
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
  • 15 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
  • 24 - 4717 - 1005 - 2011 21302310
    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,cytosolic
    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
  • intracellular scaffold protein that regulates proinflammatory gene expression
  • CARD14/CARMA2 mediates induction of inflammatory response in keratinocytes
  • 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
  • novel role for MALT1 in CARD14-induced signaling
  • RNF7 functions as a negative regulator of the NFKB1-activating capacity of CARD14
  • CARD14 recruits BCL10 and MALT1 to form the CARD-BCL10-MALT1 complex, which modulates NFKB1 and MAPK signalling pathway
  • UBAC1 participates in the inflammatory signal transduction pathways involving CARMA2sh
  • 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
    constitutional germinal mutation     loss of function
    associated with a severe variant of Atopic dermatitis (AD)
    Susceptibility
  • to Psoriasis (see PSORS2)
  • to inflammatory skin disease
  • to CARD14-associated papulosquamous eruption
  • Variant & Polymorphism other
  • rs11652075 (p.Arg820Trp), and c.599G>A (p.Ser200Asn) were associated with psoriasis
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS