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    FGF6 fibroblast growth factor 6 [ Homo sapiens ]

    Gene ID: 2251, updated on 19-May-2012
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    Summary

    Official Symbol
    FGF6provided by HGNC
    Official Full Name
    fibroblast growth factor 6provided by HGNC
    Primary source
    HGNC:3684
    See related
    Ensembl:ENSG00000111241; HPRD:00623; MIM:134921; Vega:OTTHUMG00000168242
    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
    HST2; HBGF-6
    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 gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    12p13
    Sequence :
    Chromosome: 12; NC_000012.11 (4543308..4554780, complement)
    See FGF6 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene chromosome 12 open reading frame 5 Neighboring gene ribosomal protein S15 pseudogene 7 Neighboring gene fibroblast growth factor 23 Neighboring gene chromosome 12 open reading frame 4 Neighboring gene RAD51 associated protein 1

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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. Common genetic variants associate with serum phosphorus concentration. Kestenbaum B, et al. J Am Soc Nephrol, 2010 Jul. PMID 20558539.
    2. Regulation of osteoblast and osteoclast functions by FGF-6. Bosetti M, et al. J Cell Physiol, 2010 Nov. PMID 20458746.
    3. Differential signal transduction of alternatively spliced FGFR2 variants expressed in human mammary epithelial cells. Moffa AB, et al. J Cell Physiol, 2007 Mar. PMID 17133345.
    4. Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family. Zhang X, et al. J Biol Chem, 2006 Jun 9. PMID 16597617.
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.

    See all (19) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

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

    1. These data demonstrate that FGF-6 may be considered a regulator of bone metabolism as shown by its activity on both osteoblasts and osteoclasts.
      Title: Regulation of osteoblast and osteoclast functions by FGF-6.
    2. FGF6 exhibits antitumor activity in vitro and correlates with expression of FGF receptors in medulloblastoma cells
      Title: Antitumor activity of fibroblast growth factors (FGFs) for medulloblastoma may correlate with FGF receptor expression and tumor variant.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Common genetic variants associate with serum phosphorus concentration.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P10767 P11362 FGFR1    HPRD  PubMed  
    P10767 P21802 FGFR2    HPRD  PubMed  
    P10767 P22607 FGFR3    HPRD  PubMed  
    P10767 P22455 FGFR4    HPRD  PubMed  
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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 ...
    • 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...
    • Syndecan-4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Syndecan-4-mediated signaling events, organism-specific biosystem
      Syndecan-4-mediated signaling events

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    growth factor activity 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
    		  
    cartilage condensation IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
    		  
    myoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    fibroblast growth factor 6
    Names
    fibroblast growth factor 6
    FGF-6
    HST-2
    HSTF-2
    heparin-binding growth factor 6
    heparin secretory-transforming protein 2
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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.

    mRNA and Protein(s)

    1. NM_020996.1 → NP_066276.2  fibroblast growth factor 6 precursor

      Status: REVIEWED

      Source sequence(s)
      X63454
      Consensus CDS
      CCDS8527.1
      UniProtKB/Swiss-Prot
      P10767
      Related
      ENSP00000228837, OTTHUMP00000238378, ENST00000228837, OTTHUMT00000398939
      Conserved Domains (1) summary
      cd00058
      Location:86 – 208
      Blast Score: 372
      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_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      4543308..4554780, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      4399989..4411463, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC008012.8 (58813..70285) None
    genomic AY581424.1 AAS79318.1
    genomic CH471116.2 EAW88847.1
    genomic X14071.1 CAB37648.2
    genomic X14072.1 None
    genomic X14073.1 None
    genomic X57075.1 CAA40358.1
      CAA40359.1
      CAA40360.1
    mRNA BC121097.1 AAI21098.1
    mRNA BC121098.1 AAI21099.1
    mRNA X63454.1 CAA45054.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10767.4 GenPept UniProtKB/Swiss-Prot:P10767
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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
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