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FLASH GENE
Symbol FGF14 contributors: mct - updated : 15-03-2023
HGNC name fibroblast growth factor 14
HGNC id 3671
Corresponding disease
ATCAD2 cerebellar ataxia, pure, adulte -onset 2
SCABG spinocerebellar ataxia, with neurodegeneration of the cerebellum and the basal ganglia
Location 13q33.1      Physical location : 102.373.204 - 103.054.124
Synonym symbol(s) FHF4, FGFE, FHF4, FHF-4, SCA27, MGC119129
DNA
TYPE functioning gene
STRUCTURE 691.64 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 splicing 2720 - 247 in neurons, both FGF14-1a and FGF14-1b localized at the axonal initial segment 2009 19465131
  • FGF14-1a
  • N-terminal alternatively spliced FGF14 variant
    • 5 - 2831 - 252 in neurons, both FGF14-1a and FGF14-1b localized at the axonal initial segment 2009 19465131
  • FGF14-1b
  • N-terminal alternatively spliced FGF14 variant
  • attenuates both SCN2A and SCN8A current densities
    		•
    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,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