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    FGF9 fibroblast growth factor 9 (glia-activating factor) [ Homo sapiens ]

    Gene ID: 2254, updated on 19-May-2012
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    Summary

    Official Symbol
    FGF9provided by HGNC
    Official Full Name
    fibroblast growth factor 9 (glia-activating factor)provided by HGNC
    Primary source
    HGNC:3687
    See related
    Ensembl:ENSG00000102678; HPRD:02951; MIM:600921; Vega:OTTHUMG00000017412
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GAF; SYNS3; HBFG-9; MGC119914; MGC119915
    Summary
    The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    13q11-q12
    Sequence :
    Chromosome: 13; NC_000013.10 (22245215..22278640)
    See FGF9 in Epigenomics, MapViewer

    Chromosome 13 - NC_000013.10Genomic Context describing neighboring genes Neighboring gene EF-hand domain family, member A1 Neighboring gene farnesyltransferase, CAAX box, alpha pseudogene 2 Neighboring gene ribosomal protein S7 pseudogene 10 Neighboring gene long intergenic non-protein coding RNA 540 Neighboring gene ferritin, heavy polypeptide 1 pseudogene 7

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Wnt and hedgehog gene pathway expression in serous ovarian cancer. Schmid S, et al. Int J Gynecol Cancer, 2011 Aug. PMID 21666490.
    2. Fibroblast growth factor 9 delivery during angiogenesis produces durable, vasoresponsive microvessels wrapped by smooth muscle cells. Frontini MJ, et al. Nat Biotechnol, 2011 May. PMID 21499246.
    3. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. Casabonne D, et al. Haematologica, 2011 Feb. PMID 21048031.
    4. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. Zhang X, et al. Carcinogenesis, 2010 Dec. PMID 20819778.
    5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. Jugessur A, et al. PLoS One, 2010 Jul 9. PMID 20634891.

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Fibroblast growth factor 9 was also overexpressed in all serous ovarian tumors with greater than 1000-fold increase in gene expression in 4 tumors.
      Title: Wnt and hedgehog gene pathway expression in serous ovarian cancer.
    2. Microvessels formed in the presence of FGF9 had enhanced capacity to receive flow and were vasoreactive.
      Title: Fibroblast growth factor 9 delivery during angiogenesis produces durable, vasoresponsive microvessels wrapped by smooth muscle cells.
    3. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    4. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
    6. the study ruled out microdeletions on the critical region as a common cause of Moebius syndrome and excluded FGF9 gene
      Title: Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.
    7. Data demonstrate that homodimerization autoregulates FGF9 and FGF20's receptor binding and concentration gradients in the extracellular matrix.
      Title: Homodimerization controls the fibroblast growth factor 9 subfamily's receptor binding and heparan sulfate-dependent diffusion in the extracellular matrix.
    8. Data demonstrate a previously uncharacterized mutation in FGF9 as one of the causes of Multiple synostoses syndrome, implicating an important role of FGF9 in normal joint development.
      Title: Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.
    9. Androgen receptor-negative human prostate cancer cells induce osteogenesis in mice through FGF9-mediated mechanisms.
      Title: Androgen receptor-negative human prostate cancer cells induce osteogenesis in mice through FGF9-mediated mechanisms.
    10. Inhibition of fibroblast growth factor 19 reduces tumor growth by modulating beta-catenin signaling.
      Title: Inhibition of fibroblast growth factor 19 reduces tumor growth by modulating beta-catenin signaling.
    Submit: New GeneRIF Correction See all (17)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Multiple synostoses syndrome 3

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P31371 P31371 FGF9    HPRD  PubMed  
    P31371 P11362 FGFR1    HPRD  PubMed  
    P31371 P21802 FGFR2    HPRD  PubMed  
    P31371 P22607 FGFR3    HPRD  PubMed  
    P31371 P22455 FGFR4    HPRD  PubMed  
    BioGRID:108545 BioGRID:108545 FGF9    BioGRID  PubMed Co-crystal Structure 
    BioGRID:108545 BioGRID:108552 FGFR3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Downstream signaling of activated FGFR, organism-specific biosystem (from REACTOME)
      Downstream signaling of activated FGFR, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
    • FGFR ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR ligand binding and activation, organism-specific biosystemThe FGFs are a family of 22 secreted glycoproteins that are sequestered in the extracellular matrix (ECM) through their interaction with heparin and heparin sulphate proteoglycans (HSPGs). Release o...
    • FGFR1 ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR1 ligand binding and activation, organism-specific biosystemThe vertebrate fibroblast growth factor receptor 1 (FGFR1) is alternatively spliced generating multiple variants that are differentially expressed during embryo development and in the adult body. The...
    • FGFR1c ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR1c ligand binding and activation, organism-specific biosystemThis pathway depicts the binding of an experimentally-verified range of ligands to FGFR1c. While binding affinities may vary considerably within this set, the ligands listed have been established to ...
    • FGFR2 ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR2 ligand binding and activation, organism-specific biosystemDominant mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified as causes of four phenotypically distinct craniosynostosis syndromes, including Crouzon, Jackson- Weiss...
    • FGFR2c ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR2c ligand binding and activation, organism-specific biosystemThis pathway depicts the binding of an experimentally-verified range of ligands to FGFR2c. While binding affinities may vary considerably within this set, the ligands listed have been established to ...
    • FGFR3 ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR3 ligand binding and activation, organism-specific biosystemFGFR3 is a receptor tyrosine kinase of the FGF receptor family, known to have a negative regulatory effect on long bone growth. Somatically, some of the same activating mutations are associated with ...
    • FGFR3b ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR3b ligand binding and activation, organism-specific biosystemThis pathway depicts the binding of an experimentally-verified range of ligands to FGFR3b. While binding affinities may vary considerably within this set, the ligands listed have been established to ...
    • FGFR3c ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR3c ligand binding and activation, organism-specific biosystemThis pathway depicts the binding of an experimentally-verified range of ligands to FGFR3c. While binding affinities may vary considerably within this set, the ligands listed have been established to ...
    • FGFR4 ligand binding and activation, organism-specific biosystem (from REACTOME)
      FGFR4 ligand binding and activation, organism-specific biosystemFGFR4 is expressed mainly in mature skeletal muscle, and disruption of FGFR4 signaling interrupts limb muscle formation in vertebrates.
    • FRS2-mediated cascade, organism-specific biosystem (from REACTOME)
      FRS2-mediated cascade, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2alpha and FRS2beta (also known as FRS3 or SNT-2). Activation of FGFR tyrosine kinase allows FRS2 proteins to become phosphorylated...
    • IRS-mediated signalling, organism-specific biosystem (from REACTOME)
      IRS-mediated signalling, organism-specific biosystemRelease of phospho-IRS from the insulin receptor triggers a cascade of signalling events via PI3K, SOS, RAF and the MAP kinases.
    • IRS-related events, organism-specific biosystem (from REACTOME)
      IRS-related events, organism-specific biosystemIRS is one of the mediators of insulin signalling events. It is activated by phosphorylation and triggers a cascade of events involving PI3K, SOS, RAF and the MAP kinases. The proteins mentioned unde...
    • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
      Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Melanoma, organism-specific biosystem (from KEGG)
      Melanoma, organism-specific biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
    • Melanoma, conserved biosystem (from KEGG)
      Melanoma, conserved biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
    • Negative regulation of FGFR signaling, organism-specific biosystem (from REACTOME)
      Negative regulation of FGFR signaling, organism-specific biosystemOnce activated, the FGFR signaling pathway is regulated by numerous negative feedback mechanisms. These include downregulation of receptors through CBL-mediated ubiquitination and endocytosis, ERK-m...
    • PI-3K cascade, organism-specific biosystem (from REACTOME)
      PI-3K cascade, organism-specific biosystemThe ability of growth factors to protect from apoptosis is primarily due to the activation of the AKT survival pathway. P-I-3-kinase dependent activation of PDK leads to the activation of AKT which i...
    • PI3K Cascade, organism-specific biosystem (from REACTOME)
      PI3K Cascade, organism-specific biosystem
      PI3K Cascade
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Phospholipase C-mediated cascade, organism-specific biosystem (from REACTOME)
      Phospholipase C-mediated cascade, organism-specific biosystemPhospholipase C-gamma (PLC-gamma) is a substrate of the fibroblast growth factor receptor (FGFR) and other receptors with tyrosine kinase activity. It is known that the src homology region 2 (SH2 dom...
    • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystem
      Regulation of Actin Cytoskeleton
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • SHC-mediated cascade, organism-specific biosystem (from REACTOME)
      SHC-mediated cascade, organism-specific biosystemThe exact role of SHC1 in FGFR signaling remains unclear. Numerous studies have shown that the p46 and p52 isoforms of SHC1 are phosphorylated in response to FGF stimulation, but direct interaction...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by FGFR, organism-specific biosystem (from REACTOME)
      Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
      Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    fibroblast growth factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    heparin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    embryonic digestive tract development IEA
    Inferred from Electronic Annotation
    more info
    		  
    embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    embryonic skeletal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    fibroblast growth factor receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    fibroblast growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    lung-associated mesenchyme development IEA
    Inferred from Electronic Annotation
    more info
    		  
    male gonad development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    male sex determination IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of Wnt receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of canonical Wnt receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of vascular endothelial growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of timing of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    basement membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    fibroblast growth factor 9
    Names
    fibroblast growth factor 9
    FGF-9
    HBGF-9
    heparin-binding growth factor 9
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016272.1 RefSeqGene

      Range
      5001..38426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002010.2 → NP_002001.1  fibroblast growth factor 9 precursor

      Status: REVIEWED

      Source sequence(s)
      AK290792, AL139378, CR746503, D14838
      Consensus CDS
      CCDS9298.1
      UniProtKB/Swiss-Prot
      P31371
      Related
      ENSP00000371790, OTTHUMP00000018804, ENST00000382353, OTTHUMT00000046002
      Conserved Domains (1) summary
      cd00058
      Location:64 – 191
      Blast Score: 432
      FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000013.10 Reference GRCh37.p5 Primary Assembly

      Range
      22245215..22278640
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000145.1 Alternate HuRef

      Range
      3046835..3080256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL139378.15 CAC17692.1
    genomic AY682094.1 AAT74624.1
    genomic CH471075.1 EAX08316.1
    mRNA AK095571.1 None
    mRNA AK290792.1 BAF83481.1
    mRNA BC069692.1 AAH69692.1
    mRNA BC103978.1 AAI03979.1
    mRNA BC103979.1 AAI03980.1
    mRNA CR746503.1 None
    mRNA D14838.1 BAA03572.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P31371.3 GenPept UniProtKB/Swiss-Prot:P31371
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
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