Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol FGF13 contributors: mct - updated : 27-10-2018
HGNC name fibroblast growth factor 13
HGNC id 3670
Corresponding disease
EIEE92 epileptic encephalopathy, early infantile, 92
Location Xq26.3      Physical location : 137.713.735 - 138.287.185
Synonym symbol(s) FHF2, FGF2
DNA
TYPE functioning gene
STRUCTURE 591.32 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - DXS1062 - [DXS155 - DXS294 ,DXS730 ] - DXS1211 - DXS1192 - DXS102 - qter
Authors Gecz (99)
Text [FGF13 ]
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 2340 - 255 - 2017 28162808
FGF13 IA
5 - 2705 - 245 - 2017 28162808
  • FGF13A, FHF2A
  • contains a nuclear localization signal (NLS)
  • critical role of the FHF2A isoform in regulating Nav channel function
  • 5 - 1968 - 192 high levels of FGF13B mRNA and protein were transiently present in the neocortex and hippocampus 2017 28162808
  • FGF13B
  • cytoplasmic FGF13B without an NLS
  • 6 - 2093 - 226 - 2017 28162808
    8 - 2450 - 226 - 2017 28162808
    6 - 2172 - 199 - 2017 28162808
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiensFetal
    Nervousbrainforebraincerebral cortex   Homo sapiensFetal
     brain     Homo sapiensAdult
    Reproductivefemale systemovary    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    Muscularstriatumcardiacmyocardium  Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • role of the FGF13 N-terminus in SCNA5 channel modulation
  • clusters of basic residues potentially acting as nuclear localization signals (NLS)
  • HOMOLOGY
    intraspecies homolog to fibroblast growth factor 13
    Homologene
    FAMILY
  • heparin-binding growth factors family
  • FGF11 subfamily
  • FGF homologous factor (FHF) subfamily
  • CATEGORY signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus,nucleolus
    text
  • enriched in axonal growth cones and interacts directly with microtubules
  • basic FUNCTION
  • may be involved in nervous system development and function
  • acts intracellularly as a microtubule-stabilizing protein required for axon and leading process development and neuronal migration in the cerebral cortex
  • essential role of FGF13 in establishing neural circuits in the cerebral cortex and enabling cognitive functions
  • not only binds to tubulins but also polymerizes and stabilizes MTs, and is likely required for the assembly of MTs in neurons
  • is required for the formation and structural refinement of axons
  • FGF13 expression is critical for hippocampal development
  • possible role for FGF13 in hair follicle growth and in the hair cycle
  • powerful role of FGF13 in control of neuronal excitability
  • is a microtubule-stabilizing protein that regulates neuronal polarization and migration
  • 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
  • beyond the thermosensors, the FGF13c/SCN9A omplex is essential for sustaining the transmission of noxious heat signals
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FGF13 regulates proliferation and differentiation of skeletal muscle by down-regulating SPRY1
  • FGF13 interacted with the sodium channel SCN9A in a heat-facilitated manner (FGF13 increased SCN9A sodium currents and maintained the membrane localization of SCN9A during noxious heat stimulation, enabling the sustained firing of action potentials)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE92
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    deletion encompassed only one gene, FGF13, in Wildervanck Syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of Fgf13 in mice results in neuronal migration defects in both the neocortex and the hippocampus, and Fgf13-deficient mice also exhibit weakened learning and memory