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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
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