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FLASH GENE
Symbol FGF14 contributors: mct - updated : 15-03-2023
HGNC name fibroblast growth factor 14
HGNC id 3671
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminus is required for targeting and functional regulation of Nav channels, suggesting an important function for FGF14 alternative splicing in regulating neuronal excitability
  • clusters of basic residues potentially acting as nuclear localization signals (NLS)
    • HOMOLOGY
    interspecies homolog to murine Fgf14
    intraspecies homolog to
    Homologene
    FAMILY
  • heparin-binding growth factors family
  • FGF11 subfamily
  • intracellular FGF (iFGF) sub-family
    • CATEGORY signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • may be involved in neuronal signaling, axonal trafficking, and synaptosomal function
  • FGF11, FGF12, FGF13, FGF14 are intracellular proteins that bind and modulate voltage-gated sodium channels
  • controls biophysical properties and subcellular distribution of neuronal voltage-gated Na(+) (Nav) channels through direct binding to the channel C terminus
  • role as a critical component of the Nav channel macromolecular complex, providing evidence for a novel GSK3A-dependent signaling pathway that might control excitability through specific protein/protein interactions
  • FGF11, FGF12, FGF13, FGF14 not only are potent modulators of voltage-gated Na+ channels but also affect Ca2+ channels and their function
  • concerted actions of FGF13 and FGF14 regulate the polarized localization of voltage-gated sodium channels (VGSCs) that supports efficient action potential initiation
  • implicated as an organizer of channel localization in the axon initial segment (AIS)
  • is a novel tumor suppressor, which suppresses cell proliferation and induces cell apoptosis via mediating PI3K/AKT/MTOR pathway
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FGF14 binds directly to SCN8A C-tail, regulating channel gating and expression, properties that are required for intrinsic excitability in neurons
  • FGF14 positively regulates KCNQ2/3 channels in a simplified expression system
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCABG , ATCAD2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    impairs spontaneous and repetitive firing in Purkinje neurons by altering the expression of SCN8A channels
    tumoral     --low  
    by hypermethylation in colorectal cancer (CRC)
    tumoral     --over  
    associated with better overall survival (OS) in pancreatic cancer
    constitutional     --low  
    in Downbeat nystagmus (DBN)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    inactivation of Fgf14 in mice results in markedly reduced Purkinje neuron excitability