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FLASH GENE
Symbol FGF12 contributors: mct - updated : 21-11-2016
HGNC name fibroblast growth factor 12
HGNC id 3668
Corresponding disease
EIEE47 epileptic encephalopathy, early infantile, 47
Location 3q28      Physical location : 191.859.683 - 192.445.388
Synonym name
  • FGF homologous factor 1
    • Synonym symbol(s) FHF1, FGF12B
    DNA
    TYPE functioning gene
    STRUCTURE 588.21 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 splicing 5408 - 181 - 2011 21518765
  • FGF12B
  • lacks the NLS because the N-terminal 66 AAs of FGF12A are substituted by 4 AAs by means of alternative splicing
  • endocytosed FGF12B could translocate from endosomes into the cytosol to function because such translocation was observed with FGF1
    • 5 - 6174 - 243 - 2011 21518765
  • FGF12A
  • detected in the nuclei of cells
    		•
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheartventricle    Homo sapiens
    Nervousbrain   predominantly Homo sapiens
     spinal cord    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text in fetal brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • clusters of basic residues potentially acting as nuclear localization signals (NLS)
  • can be internalized into cells depending on a CPP domain (CPP-C), at the C-terminal region, that can play a role in delivering other polypeptides into cells as a CPP (cell-penetrating peptide)
  • not only lacks classical signal sequences but also fails to activate FGFRs
    • HOMOLOGY
    intraspecies homolog to fibroblast growth factor 12
    Homologene
    FAMILY
  • heparin-binding growth factors family
  • FGF11 subfamily
    • CATEGORY signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • able to inhibit radiation-induced tissue damage like other FGFs
  • intracellularly suppresses radiation-induced apoptosis in mast cells independently of MAPK8IP2
  • plays an intracellular role in the inhibition of radiation-induced apoptosis
  • can be internalized into cells to play a role in physiological events
  • may also be secreted from mast cells via other unknown pathways
  • potential radioprotector that could exert therapeutic effects on radiation damage
  • FGF11, FGF12, FGF13, FGF14 are intracellular proteins that bind and modulate voltage-gated sodium channels
  • FGF11, FGF12, FGF13, FGF14 not only are potent modulators of voltage-gated Na+ channels but also affect Ca2+ channels and their function
  • can protect the intestine against radiation-induced injury through its internalization, independently of FGFRs
  • strongly induced the quiescent and contractile Vascular smooth muscle cells (VSMCs) phenotypes and directly promoted VSMC lineage differentiation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component unknown
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • can bind heparin with high affinity, as for other FGFs, and a heparin-binding site of FGF12 seems to be similar to that of other FGFs
  • could bind to the C terminus of the cardiac voltage-gated sodium channel to modulate its properties
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE47
    Susceptibility
  • for Kashin-Beck disease (KBD)
    • Variant & Polymorphism other
  • most significant association signal was observed at rs1847340 for KBD
    • Candidate gene
  • candidate for Brugada syndrome
    • Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneousvascularischemic injury
    could be a new therapeutic target for treating restenosis and atherosclerosis
    ANIMAL & CELL MODELS