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FLASH GENE
Symbol FGF14 contributors: mct - updated : 27-08-2015
HGNC name fibroblast growth factor 14
HGNC id 3671
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainhindbraincerebellum   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
NervousPurkinje cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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,nucleus
    basic FUNCTION
  • may be involved in neuronal signaling, axonal trafficking, and synaptosomal function
  • 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
  • concerted actions of FGF13 and FGF14 regulate the polarized localization of voltage-gated sodium channels (VGSCs) that supports efficient action potential initiation
    • 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
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCABG
    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
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    inactivation of Fgf14 in mice results in markedly reduced Purkinje neuron excitability