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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FGF9 Gene

protein-coding   GIFtS: 66
GCID: GC13P022245

fibroblast growth factor 9 (glia-activating factor)

 Explore 40 diseases affiliated with
FGF9 via our new
 Human Malady Compendium 
Biological research products
for FGF9
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Fibroblast Growth Factor 9 (Glia-Activating Factor)1 2     SYNS32 5
Heparin-Binding Growth Factor 92 3     HBFG-92
FGF-92 3     Fibroblast Growth Factor 92
GAF2 3     Glia-Activating Factor3
HBGF-92 3     

External Ids:    HGNC: 36871   Entrez Gene: 22542   Ensembl: ENSG000001026787   OMIM: 6009215   UniProtKB: P313713   

Export aliases for FGF9 gene to outside databases

Previous GC identifers: GC13P020225 GC13P016225 GC13P021175 GC13P020044 GC13P020045 GC13P021144 GC13P003046


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FGF9:
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)

UniProtKB/Swiss-Prot: FGF9_HUMAN, P31371
Function: Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation
and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair
and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation
of glial tumors

Gene Wiki entry for FGF9


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_024524.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FGF9 gene promoter:
         Max1   Tal-1   Pax-5   Nkx2-5   HNF-4alpha1   E47   POU2F1   POU2F1a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFGF9 promoter sequence
   Search SABiosciences Chromatin IP Primers for FGF9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FGF9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q11-q12   Ensembl cytogenetic band:  13q12.11   HGNC cytogenetic band: 13q11-q12

FGF9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FGF9 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P022245:  view genomic region     (about GC identifiers)

Start:
22,245,215 bp from pter      End:
22,278,640 bp from pter
Size:
33,426 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FGF9_HUMAN, P31371 (See protein sequence)
Recommended Name: Fibroblast growth factor 9 precursor  
Size: 208 amino acids; 23441 Da
Subunit: Monomer. Homodimer. Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors
(FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors
Subcellular location: Secreted
Miscellaneous: Biochemical analysis of the Asn-99 mutation reveals a significantly impaired FGF signaling, as evidenced
by diminished activity of the MAPK1/MAPK2 pathway and decreases CTNNB1 and MYC expression when compared with wild-type
protein. Binding of mutant protein to the receptor FGFR3 is severely impaired, although homodimerization of mutant to
itself or wild-type is not detectably affected, providing a basis for the observed defective FGF9 signaling
2 PDB 3D structures from and Proteopedia for FGF9:
1G82 (3D)        1IHK (3D)    
Secondary accessions: A8K427 Q3SY32

Explore the universe of human proteins at neXtProt for FGF9: NX_P31371

Post-translational modifications:

  • Three molecular species were found (30 kDa, 29 kDa and 25 kDa), cleaved at Leu-4, Val-13 and Ser-34 respectively. The
  • smaller ones might be products of proteolytic digestion. Furthermore, there may be a functional signal sequence in the
    30 kDa species which is uncleavable in the secretion step1
  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P31371

  • FGF9 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002001.1  
    ENSEMBL proteins: 
     ENSP00000371790  
    Reactome Protein details: P31371
    Human Recombinant Protein Products: 
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    Uscn Proteins for FGF9

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005604basement membrane IEA--
    GO:0005615extracellular space IDA8321227
    GO:0005737cytoplasm IEA--


    FGF9 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FGF9 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR002348 IL1_HBGF
     IPR008996 Cytokine_IL1-like
     IPR002209 GF_heparin-bd

    Graphical View of Domain Structure for InterPro Entry P31371

    ProtoNet protein and cluster: P31371

    2 Blocks protein families:
    IPB002209 Heparin binding growth factor family signature
    IPB002348 IL1/HBGF family signature


    UniProtKB/Swiss-Prot: FGF9_HUMAN, P31371
    Similarity: Belongs to the heparin-binding growth factors family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: FGF9_HUMAN, P31371
    Function: Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation
    and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair
    and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation
    of glial tumors

         Genatlas biochemistry entry for FGF9:
    fibroblast growth factor 9

         Summary:  
    During embryonic development, FGF9 as signaling molecule is secreted from the following cells: Endochondral Preosteoblasts in Sacral Vertebrae, Endochondral Preosteoblasts in Zeugopod Perichondrium (see all 9).

    It affects the following cells: Cardiomyocytes in Myocardium, Endochondral Preosteoblasts in Autopod Perichondrium (see all 14).

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005104fibroblast growth factor receptor binding IEA--
    GO:0008083growth factor activity IEA--
    GO:0008201heparin binding IEA--


    FGF9 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for FGF9: Fgf9tm1.2Fwan Fgf9tm1Dor
         15/18 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Fgf9) (see all 18):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism  integument 
     limbs/digits/tail  mortality/aging  muscle  normal  reproductive system 

    FGF9 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/18 super-pathways (see all 18About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1FGFR2c binds to FGF
    8/18 pathways (see all 18)
    FGFR2c binds to FGF1.00
    FGFR4 ligand binding and activation0.73
    FGFR2c ligand binding and activation1.00
    FGFR1c ligand binding and activation0.71
    FGFR3c ligand binding and activation0.79
    Signaling by activated point mutants of FGFR10.71
    FGFR3 ligand binding and activation0.79
    FGFR1 ligand binding and activation0.59
    2Signaling by FGFR
    8/12 pathways (see all 12)
    Signaling by FGFR1.00
    DAP12 signaling0.83
    Downstream signaling of activated FGFR0.92
    Signaling by EGFR in Cancer0.83
    Signaling by FGFR in disease0.91
    DAP12 interactions0.76
    Signaling by ERBB20.89
    Signaling by PDGF0.72
    3PIP3 activates AKT signaling
    8/10 pathways (see all 10)
    PI-3K cascade1.00
    PI3K/AKT activation0.97
    PIP3 activates AKT signaling1.00
    GAB1 signalosome0.96
    PI3K/AKT Signaling in Cancer1.00
    Constitutive PI3K/AKT Signaling in Cancer0.88
    PI3K events in ERBB2 signaling1.00
    Signaling by SCF-KIT0.72
    4IRS-related events
    IRS-related events1.00
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.90
    IRS-mediated signalling0.98
    IGF1R signaling cascade0.90
    Insulin receptor signalling cascade0.94
    PI3K Cascade0.84
    IRS-related events triggered by IGF1R0.93
    Signaling by Insulin receptor0.74
    5Immune System
    Immune System1.00
    Innate Immune System0.46
    Adaptive Immune System0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for FGF9
        Development FGF-family signaling

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FGF9
        P2Y Receptor Signaling
    FGF Pathway
    RhoGDI Pathway
    Regulation of eIF4 and p70S6K
    SOCS Pathway

    1 GeneGo (Thomson Reuters) Pathway for FGF9
        Development FGF-family signaling

    1 BioSystems Pathway for FGF9 
        Regulation of Actin Cytoskeleton

    5/58        Reactome Pathways for FGF9 (see all 58)
        FGFR2 ligand binding and activation
    FGFR ligand binding and activation
    Signaling by EGFR in Cancer
    Signaling by FGFR2 mutants
    Downstream signal transduction


    4         Kegg Pathways  (Kegg details for FGF9):
        MAPK signaling pathway
    Regulation of actin cytoskeleton
    Pathways in cancer
    Melanoma


    FGF9 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FGF9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/21 Interacting proteins for FGF9 (P313713 ENSP000003717904) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FGFR4P224553, ENSP000002924084I2D: score=1 STRING: ENSP00000292408
    FGFR3P226073, ENSP000002607954I2D: score=2 STRING: ENSP00000260795
    FGF1ENSP000003385484STRING: ENSP00000338548
    FGF10ENSP000002646644STRING: ENSP00000264664
    FGF18ENSP000002746254STRING: ENSP00000274625
    About this table

    Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0001649osteoblast differentiation IEA--
    GO:0002053positive regulation of mesenchymal cell proliferation IEA--
    GO:0002062chondrocyte differentiation IEA--
    GO:0006606protein import into nucleus IEA--


    FGF9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FGF9 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FGF9
    7 Novoseek chemical compound relationships for FGF9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    matrigel 35.1 2 16452189 (1)
    heparin 26.8 2 15058010 (1), 12820388 (1)
    vegf 22.2 5 17082335 (2), 16377203 (1), 14872006 (1), 17881491 (1)
    calcium 0 2 18093889 (3), 18978176 (2), 15760907 (1)
    tyrosine 0 3 18336810 (1)
    methionine 0 2 9139882 (1), 8321227 (1)
    estrogen 0 4 14602803 (4)

    Search CenterWatch for drugs/clinical trials and news about FGF9 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FGF9 gene: 
    NM_002010.2  

    Unigene Cluster for FGF9:

    Fibroblast growth factor 9 (glia-activating factor)
    Hs.111  [show with all ESTs]
    Unigene Representative Sequence: NM_002010
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382353(uc001uog.2) ENST00000461657 ENST00000478546

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    Additional cDNA sequence: 

    AK095571.1 AK290792.1 BC069692.1 BC103978.1 BC103979.1 D14838.1 

    4 DOTS entries:

    DT.206299  DT.65284556  DT.102823820  DT.75182799 

    24/38 AceView cDNA sequences (see all 38):

    AI221350 BX402882 BM724935 BX110535 CD613709 BM720010 AI765602 AA989402 
    BX282365 NM_002010 AK095571 AW466928 BC069692 AI798776 BM926135 BM680164 
    AI334161 CD613707 D14838 AL583692 AI078616 BI827161 AI963033 D80569 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for FGF9    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b
    SP1:                    -               
    SP2:                                    


    ECgene alternative splicing isoforms for FGF9

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FGF9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGGAAAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    FGF9 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/21 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 21
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbLimb EctodermApical Ectodermal Ridge CellsDermis, Ectoderm
    BoneAutopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneAutopod PerichondriumEndochondral PreosteoblastsBone
    BoneCervical VertebraeEndochondral PreosteoblastsBone
    BoneFacial SuturesFacial Presumptive Suture CellsBone
    BoneFacial SuturesFacial Suture CellsBone
    BoneLumbar VertebraeEndochondral PreosteoblastsBone
    BoneRostral Skull Membranous BonesIntramembrenous OsteocytesBone
    BoneRostral SuturesRostral Presumptive Suture CellsBone
    BoneRostral SuturesRostral Suture CellsBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FGF9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FGF9

    SOURCE GeneReport for Unigene cluster: Hs.111

    UniProtKB/Swiss-Prot: FGF9_HUMAN, P31371
    Tissue specificity: Glial cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including FGF9: 
              Growth Factors in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat
              WNT Signaling Targets in human mouse rat
              Neurotrophins & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FGF9 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FGF91 fibroblast growth factor 9 (glia-activating factor) 89.1(n)
    97.6(a)
      378917  NM_204399.1  NP_989730.1 
    lizard
    (Anolis carolinensis)
    Reptilia FGF96
    --
    90(a)
    1 ↔ 1
    3(188009717-188052128)
    African clawed frog
    (Xenopus laevis)
    Amphibia fgf9-A2 fibroblast growth factor 9 (glia-activating factor) 84.23(n)    U47622.1 
    worm
    (Caenorhabditis elegans)
    Secernentea let-7566
    Protein let-756
    14(a)
    1 → many
    III(6407076-6409965)


    ENSEMBL Gene Tree for FGF9 (if available)
    TreeFam Gene Tree for FGF9 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FGF9 gene
    FGF122  FGF52  FGF202  FGF162  FGF42  FGF62  FGF32  FGF72  
    FGF112  FGF102  FGF132  FGF222  FGF142  
    15 SIMAP similar genes for FGF9 using alignment to 1 protein entry:     FGF9_HUMAN:
    FGF20    FGF16    FGF10    FGF12    FGF7    FGF22
    FGF13    FGF1    FGF11    FGF14    FGF6    FGF3
    FGF5    FGF4    FGF2

    FGF9 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/572 NCBI SNPs in FGF9 are shown (see all 572    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs749256641,2
    F,--3044973(+) TTTATG/TAGAAG 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs1122654361,2
    F,--3045034(+) AAGCCC/TGCTCT 1 -- us2k13Minor allele frequency- T:0.05CSA WA 122
    rs170699311,2
    C,F,H,--3046501(+) CAGAGC/TCCCAG 1 -- us2k15Minor allele frequency- T:0.01NS NA 864
    rs785427881,2
    F--3047377(+) GCCTGC/TTAAGA 1 -- ut511Minor allele frequency- T:0.50NA 4
    rs170700061,2
    C,--3048357(+) TGTGCC/ACAAAT 1 -- int11Minor allele frequency- A:0.01NS 176
    rs170700331,2
    C,--3048634(+) TTTCCA/CTNNNN 1 -- int13Minor allele frequency- C:0.02NS NA EA 416
    rs170700361,2
    C,--3048661(+) TCTCCT/AGNNNN 1 -- int13Minor allele frequency- A:0.03NS NA EA 416
    rs170700391,2
    C,--3048662(+) CTCCTG/CCGTGG 1 -- int13Minor allele frequency- C:0.03NS NA EA 416
    rs170700441,2
    C,--3048866(+) AGTCAA/GCTAAC 1 -- int11Minor allele frequency- G:0.01NS 172
    rs79991321,2
    C,--3048893(+) GGACTC/GTTGAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for FGF9 (22245215 - 22278640 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FGF9
         1 CNV: 4797
    Human Gene Mutation Database (HGMD): FGF9

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FGF9
    DNA2.0 Custom Variant and Variant Library Synthesis for FGF9

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FGF9 for disorders           About GeneDecksing

    OMIM gene information: 600921   
    OMIM disorders: 612961  
    UniProtKB/Swiss-Prot: FGF9_HUMAN, P31371
  • Defects in FGF9 are the cause of multiple synostoses syndrome type 3 (SYNS3) [MIM:612961]. Multiple synostoses
  • syndrome is an autosomal dominant condition characterized by progressive joint fusions of the fingers, wrists, ankles
    and cervical spine, characteristic facies and progressive conductive deafness

    20/40 diseases for FGF9 (see all 40):    About MalaCards
    sex reversal    xy sex reversal    synostoses syndrome    cleft lip/palate
    synovial chondromatosis    multiple synostoses syndrome 3    cystic adenomatoid malformation of lung    cleft lip
    thanatophoric dysplasia    craniosynostosis    moebius syndrome    ladd syndrome
    clouston syndrome    osteochondroma    achondroplasia    chronic lymphocytic leukemia
    craniosynostosis, syndromic    mood disorder    lymphocytic leukemia    neuronitis

    1 disease from the University of Copenhagen DISEASES database for FGF9:
    Achondroplasia

    10/12 Novoseek disease relationships for FGF9 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ovarian endometrioid adenocarcinoma 72.4 1 16452189 (1)
    craniosynostosis 48.7 2 14613973 (1)
    glioma 35.5 15 9864407 (3), 9696088 (2), 9139882 (1), 8321227 (1) (see all 7)
    neoplastic transformation 20.3 2 16452189 (1)
    nsclc 6.51 6 18849352 (4), 19358281 (1)
    glioblastoma 5.8 4 9696088 (1), 9507114 (1)
    endometriosis 4.16 3 14602803 (1), 16982695 (1)
    hypertrophy 0 1 17544391 (1)
    brain tumors 0 5 9696088 (4)
    tumors 0 18 9696088 (3), 18165946 (3), 9139882 (2), 16452189 (1) (see all 8)

    Human Genome Epidemiology (HuGE) Navigator: FGF9 (6 documents)

    Export disorders for FGF9 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FGF9 gene, integrated from 9 sources (see all 147):
    (articles sorted by number of sources associating them with FGF9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a novel cytokine cDNA encoding the ninth member of the fibroblast growth factor family, which has a unique secretion property. (PubMed id 8321227)1, 2, 3, 9 Miyamoto M.... Kurokawa T. (1993)
    2. Crystal structure of fibroblast growth factor 9 reveals regions implicated in dimerization and autoinhibition. (PubMed id 11060292)1, 2, 9 Plotnikov A.N....Mohammadi M. (2001)
    3. Multiple synostoses syndrome is due to a missense mut ation in exon 2 of FGF9 gene. (PubMed id 19589401)1, 2, 9 Wu X.L....Wang Z.G. (2009)
    4. Structure of fibroblast growth factor 9 shows a symmetric dimer with unique receptor- and heparin-binding interfaces. (PubMed id 11223514)1, 2, 9 Hecht H.J.... Yayon A. (2001)
    5. Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family. (PubMed id 16597617)1, 2 Zhang X....Ornitz D.M. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Receptor specificity of the fibroblast growth factor family. (PubMed id 8663044)1, 2 Ornitz D.M....Goldfarb M. (1996)
    10. Novel secretory heparin-binding factors from human glioma cells (glia-activating factors) involved in glial cell growth. Purification and biological properties. (PubMed id 8428960)1, 2 Naruo K....Kurokawa T. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2254 HGNC: 3687 AceView: FGF9 Ensembl:ENSG00000102678 euGenes: HUgn2254
    ECgene: FGF9 Kegg: 2254 H-InvDB: FGF9

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FGF9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FGF9 Genetics and Cytogenetics in Oncology and Haematology
    R&D Systems' cytokine source book: FGF-9http://www.rndsystems.com/molecule_detail.aspx?m=1436
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fgf9/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FGF9 gene:
    Search GeneIP for patents involving FGF9

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    Advanced Cell Diagnostics
    About This Section

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     Regulatory tfbs in FGF9 promoter
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