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FLASH GENE
Symbol FGF9 contributors: mct/npt/pgu - updated : 28-01-2013
HGNC name fibroblast growth factor 9 (glia-activating factor)
HGNC id 3687
Corresponding disease
SYNS3 multiple synostoses 3
Location 13q12.11      Physical location : 22.245.214 - 22.278.640
Synonym name
  • endometrial stroma growth factor
  • glia-activating factor
  • Synonym symbol(s) GAF, HBFG-9, MGC119914, MGC119915, SYNS3
    DNA
    TYPE functioning gene
    STRUCTURE 33.43 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    IL17D 13q12.11 interleukin 17D LOC221143 13q12.11 hypothetical protein LOC221143 XPO4 13q11 exportin 4 LOC390379 13 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP) LOC387902 13 similar to protein 40kD LATS2 13q11-q12 LATS, large tumor suppressor, homolog 2 (Drosophila) LOC338870 13q12.11 similar to ribosomal protein S12 LOC390380 13 similar to chromosome 9 open reading frame 12; 1,3,4,5,6-pentakisphosphate 2-kinase SAP18 13q12.11 sin3-associated polypeptide, 18kDa C13orf3 13q11 chromosome 13 open reading frame 3 MRP63 13p11.1-q11 mitochondrial ribosomal protein 63 LOC387903 13 LOC387903 ESTRRA 13q12.11 estrogen-related receptor alpha pseudogene LOC387904 13 similar to hypothetical protein GPRK6P 13pter-q21 G protein-coupled receptor kinase 6 pseudogene LOC387905 13 LOC387905 FLJ25952 13q12.11 hypothetical protein FLJ25952 LOC387906 13 similar to RIKEN cDNA 5033406L14 LOC390382 13 similar to histone 1, H2bc; H2B histone family, member S FLJ34588 13q12.11 Smhs2 homolog (rat) LOC387907 13 similar to bA271B5.1 (similar to ribosomal protein S7) FGF9 13q11-q12 fibroblast growth factor 9 (glia-activating factor)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 4545 - 208 - 2001 11223514
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinesmall intestine   
    Nervousbrain    
    Reproductivefemale systembreastmammary gland  
    Respiratorylung     Homo sapiens
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningmesothelium   Homo sapiens
    Epithelialbarrier/liningendometrium  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousglia
    Nervousneuron
    Respiratoryepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text apical ectodermal ridge
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two cysteine residues and other consensus sequences
  • two hydrophobic domains at the N terminus (cleavable signal sequence)
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • heparin-binding growth factors family
  • FGF9 subfamily
  • CATEGORY transcription factor , signaling growth factor , transport
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • autocrine/paracrine growth factor, playing an important for glial cell development
  • playing a role in retinal differentiation and maturation, possibly representing a neuronally derived factor acting upon glial (and other) cells
  • mesothelial and epithelial FGF9 directs lung development by regulating mesenchymal growth, and the pattern and expression levels of mesenchymal growth factors that signal back to the epithelium
  • playing a role in XY germ cell survival
  • perichondrial FGF1, FGF2, FGF6, FGF7, FGF9, FGF18, FGF21, FGF22 regulate growth plate chondrogenesis
  • plays a role in colorectal and endometrial carcinogenesis
  • playing an important role in normal joint development
  • homodimerization controls the binding to the receptor and heparan sulfate dependent diffusion in the extracellular matrix
  • might be important during various stages of bone healing
  • contributes functionally to both angiogenic and osteogenic processes during bone repair
  • required for lung development
  • CELLULAR PROCESS cell life, proliferation/growth
    cell life, antiapoptosis
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS endocytosis transport
    PATHWAY
    metabolism
    signaling
  • TGFB1-FGF9-PITX2 signaling cascade regulates cranial neural crest cell proliferation during palate formation
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cooperate with SHH to regulate mesenchymal proliferation in distinct submesothelial and subepithelial regions
  • FUBP3 regulates FGF9 expression at the post-transcriptional level
  • interaction between FUBP3 and FGF9 3prime-UTR UG-repeat promoting FGF9 mRNA translation
  • cell & other
    REGULATION
    induced by SHH
    ASSOCIATED DISORDERS
    corresponding disease(s) SYNS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in colorectal and endometrial carcinoma
    constitutional   deletion    
    of either FGF9 or FGFR2 in an XY gonad resulted in up-regulation of WNT4 and male-to-female sex reversal
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • spontaneous dominant mouse mutant, Elbow knee synostosis (Eks), shows elbow and knee joint synosostis, and premature fusion of cranial sutures
  • loss of Fgf9 in XX Wnt4(-/-) gonads does not rescue their partial female-to-male sex-reversal
  • embryos lacking Fgf9 show mesenchymal hypoplasia, decreased epithelial branching and, by the end of gestation, hypoplastic lungs that cannot support life