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FLASH GENE
Symbol FGF14 contributors: mct - updated : 27-08-2015
HGNC name fibroblast growth factor 14
HGNC id 3671
Corresponding disease
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
DNA
TYPE functioning gene
STRUCTURE 680.92 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
DOCK9 13q32.1 dedicator of cytokinesis 9 LOC390421 13 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) PHGDHL1 13 phosphoglycerate dehydrogenase like 1 GPR18 13q32 G protein-coupled receptor 18 EBI2 13q32.3 Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor) LOC390422 13 similar to Epstein-Barr virus induced gene 2 TM9SF2 13q32.2 transmembrane 9 superfamily member 2 CLYBL 13q32.3 citrate lyase beta like ZIC5 13q32.2 Zic family member 5 (odd-paired homolog, Drosophila) ZIC2 13q32 Zic family member 2 (odd-paired homolog, Drosophila) PCCA 13q32 propionyl Coenzyme A carboxylase, alpha polypeptide LOC87769 13q32.3 hypothetical protein BC004360 FLJ14624 13q32.3 hypothetical protein FLJ14624 LOC390423 13 similar to ADP-ribosylation factor 4 VGCNL1 13q32.3 voltage gated channel like 1 ITGBL1 13q33 integrin, beta-like 1 (with EGF-like repeat domains) FGF14 13q34 fibroblast growth factor 14 TPP2 13q32-q33 tripeptidyl peptidase II LOC196541 13q33.1 similar to RIKEN cDNA 2310038H17 FLJ40176 13q33.1 hypothetical protein FLJ40176 LOC93081 13q33.1 hypothetical protein BC015148 KDELC1 13q33 KDEL (Lys-Asp-Glu-Leu) containing 1 BIVM 13q32-q33.1 basic, immunoglobulin-like variable motif containing ERCC5 13q22 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) LOC121952 13q33.1 hypothetical protein LOC121952 SLC10A2 13q33 solute carrier family 10 (sodium/bile acid cotransporter family), member 2
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,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