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

FGF3 Gene

protein-coding   GIFtS: 65
GCID: GC11M069624

Fibroblast Growth Factor 3

(Previous name: fibroblast growth factor 3 (murine mammary tumor virus integration...)
(Previous symbol: INT2)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Fibroblast Growth Factor 31 2     Proto-Oncogene Int-22 3
INT21 2 3 5     FGF-32 3
Fibroblast Growth Factor 3 (Murine Mammary Tumor Virus Integration Site
(V-Int-2) Oncogene Homolog)1 2
     HBGF-32 3
INT-2 Proto-Oncogene Protein1 2     mouse1
Oncogene INT21 2     Murine Mammary Tumor Virus Integration Site 21
V-INT2 Murine Mammary Tumor Virus Integration Site Oncogene Homolog1 2     Murine Mammary Tumor Virus Integration Site 2, Mouse2
Heparin-Binding Growth Factor 32 3     

External Ids:    HGNC: 36811   Entrez Gene: 22482   Ensembl: ENSG000001868957   OMIM: 1649505   UniProtKB: P114873   

Export aliases for FGF3 gene to outside databases

Previous GC identifers: GC11U990037 GC11M069397 GC11M069333 GC11M065917


(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 FGF3 Gene:
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
was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary
tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important
for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested
the role in inner ear formation. (provided by RefSeq, Jul 2008)

GeneCards Summary for FGF3 Gene: 
FGF3 (fibroblast growth factor 3) is a protein-coding gene. Diseases associated with FGF3 include breast squamous cell carcinoma, and papillary adenocarcinoma, and among its related super-pathways are Regulation of actin cytoskeleton and Development FGF-family signaling. GO annotations related to this gene include protein binding and growth factor activity. An important paralog of this gene is FGF12.

UniProtKB/Swiss-Prot: FGF3_HUMAN, P11487
Function: Plays an important role in the regulation of embryonic development, cell proliferation, and cell
differentiation. Required for normal ear development

Gene Wiki entry for FGF3 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FGF3 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFGF3 promoter sequence
   Search SABiosciences Chromatin IP Primers for FGF3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FGF3


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.3   HGNC cytogenetic band: 11q13

FGF3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FGF3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M069624:  view genomic region     (about GC identifiers)

Start:
69,624,736 bp from pter      End:
69,634,192 bp from pter
Size:
9,457 bases      Orientation:
minus strand

1 alternative location:
Chr11-,NW_003571046 9,951-19,407     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FGF3_HUMAN, P11487 (See protein sequence)
Recommended Name: Fibroblast growth factor 3 precursor  
Size: 239 amino acids; 26887 Da
Subunit: Interacts with FGFR1 and FGFR2. Affinity between fibroblast growth factors (FGFs) and their receptors is
increased by heparan sulfate glycosaminoglycans that function as coreceptors
Subcellular location: Secreted (Potential)
Secondary accessions: Q0VG69

Explore the universe of human proteins at neXtProt for FGF3: NX_P11487

Explore proteomics data for FGF3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P11487

  • FGF3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FGF3 Protein Expression
    REFSEQ proteins: NP_005238.1  
    ENSEMBL proteins: 
     ENSP00000334122  
    Reactome Protein details: P11487
    Human Recombinant Protein Products for FGF3: 
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    Novus Biologicals FGF3 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FGF3 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus IEA--

    FGF3 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for FGF3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR002348 IL1_HBGF
     IPR008996 Cytokine_IL1-like
     IPR002209 GF_heparin-bd

    Graphical View of Domain Structure for InterPro Entry P11487

    ProtoNet protein and cluster: P11487

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


    UniProtKB/Swiss-Prot: FGF3_HUMAN, P11487
    Similarity: Belongs to the heparin-binding growth factors family


    FGF3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FGF3_HUMAN, P11487
    Function: Plays an important role in the regulation of embryonic development, cell proliferation, and cell
    differentiation. Required for normal ear development

         Genatlas biochemistry entry for FGF3:
    fibroblast growth factor 3,basic,expressed during embryonic development

         Summary:
    During embryonic development, FGF3 as signaling molecule is secreted from the following cells: Dental Mesenchymal Cells in Branchial Arch 1 It affects the following cells: Stellate Reticulum Cells in Dental Core

         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:0005515protein binding IPI16263090
    GO:0008083growth factor activity IEA--
         
    FGF3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FGF3:
     Decreased TP53 protein express 

         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Fgf3):
     behavior/neurological  embryogenesis  growth/size  hearing/vestibular/ear  limbs/digits/tail 
     mortality/aging  nervous system  no phenotypic analysis  normal  reproductive system 
     skeleton 

    FGF3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FGF3: Fgf3tm1Sng Fgf3tm1.1Sms Fgf3tm1Mrc

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FGF3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FGF3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FGF3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FGF3 

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                         Customized lentivirus expression plasmids for stable overexpression of FGF3 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGF3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FGF3 About   (see all 22)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    Regulation of actin cytoskeleton0.57
    2Development FGF-family signaling
    Development FGF-family signaling0.63
    FGF Pathway0.38
    3Signaling by FGFR
    Downstream signaling of activated FGFR0.92
    Downstream signal transduction0.90
    Signaling by FGFR0.92
    Signaling by PDGF0.85
    Signaling by FGFR in disease0.91
    Signaling by EGFR0.84
    DAP12 signaling0.91
    Signaling by EGFR in Cancer0.83
    4PIP3 activates AKT signaling
    GAB1 signalosome0.93
    PI3K events in ERBB2 signaling0.88
    PI3K/AKT activation0.93
    PI3K events in ERBB4 signaling0.88
    PIP3 activates AKT signaling0.88
    Constitutive PI3K/AKT Signaling in Cancer0.88
    PI-3K cascade0.88
    Signaling by SCF-KIT0.72
    5IRS-related events
    Insulin receptor signalling cascade0.94
    IGF1R signaling cascade0.92
    IRS-related events0.94
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.92
    IRS-related events triggered by IGF1R0.93
    PI3K Cascade0.86
    IRS-mediated signalling0.92
    Signaling by Insulin receptor0.79

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for FGF3
        Development FGF-family signaling

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FGF3
        P2Y Receptor Signaling
    FGF Pathway
    RhoGDI Pathway
    Regulation of eIF4 and p70S6K
    SOCS Pathway

    1 GeneGo (Thomson Reuters) Pathway for FGF3
        Development FGF-family signaling

    1 BioSystems Pathway for FGF3
        Regulation of Actin Cytoskeleton

    5/51        Reactome Pathways for FGF3 (see all 51)
        FGFR2 ligand binding and activation
    FGFR ligand binding and activation
    Signaling by EGFR in Cancer
    Signaling by FGFR2 mutants
    Downstream signal transduction


    5/6         Kegg Pathways  (Kegg details for FGF3) (see all 6):
        MAPK signaling pathway
    PI3K-Akt signaling pathway
    Regulation of actin cytoskeleton
    Pathways in cancer
    Proteoglycans in cancer


    FGF3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FGF3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/17 Interacting proteins for FGF3 (P114873 ENSP000003341224) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FGFR4P224553, ENSP000002924084I2D: score=2 STRING: ENSP00000292408
    RPS2P158803, ENSP000003418854I2D: score=2 STRING: ENSP00000341885
    FGFR1P113623, ENSP000003802804I2D: score=1 STRING: ENSP00000380280
    FGFR3P226073, ENSP000002607954I2D: score=1 STRING: ENSP00000260795
    EBNA1BP2Q998483, ENSP000002360514I2D: score=3 STRING: ENSP00000236051
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001759organ induction IEA--
    GO:0007165signal transduction TAS2470007
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007267cell-cell signaling TAS2470007
    GO:0008284positive regulation of cell proliferation IGI8663044

    FGF3 for ontologies           About GeneDecksing



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

    FGF3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for FGF3

    1 HMDB Compound for FGF3    About this table
    CompoundSynonyms CAS #PubMed Ids
    HeparinArteven (see all 17)9005-49-6--

    5 Novoseek inferred chemical compound relationships for FGF3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bamhi 29.1 2 1975511 (1), 1362493 (1)
    vegf 13 8 7519042 (3), 10706099 (1)
    oligonucleotide 0 1 8559598 (1)
    steroid 0 1 1350457 (1)
    agar 0 3 2278877 (2), 8314352 (1)

    Search CenterWatch for drugs/clinical trials and news about FGF3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FGF3 gene: 
    NM_005247.2  

    Unigene Cluster for FGF3:

    Fibroblast growth factor 3
    Hs.37092
    Unigene Representative Sequence: NM_005247
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000334134(uc001oph.3)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: BC113739.1 

    1 DOTS entry:

    DT.95313645 

    1 AceView cDNA sequence:

    NM_005247 

    GeneLoc Exon Structure


    (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

    FGF3 expression in normal human tissues (normalized intensities)      FGF3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FGF3 Expression
    About this image


    FGF3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Midbrain tegmentum
             brain/midbrain   
     
     Tooth
             Secondary Enamel Knot Cells Enamel Knot
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 2 entries
             Dental Mesenchymal Cells Branchial Arch 1
             Branchial Arch 2
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles

    See FGF3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FGF3

    SOURCE GeneReport for Unigene cluster: Hs.37092
        SABiosciences Expression via Pathway-Focused PCR Arrays including FGF3: 
              Growth Factors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Stem Cells in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGF3

    (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 chordates.

    Orthologs for FGF3 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fgf31 , 5 fibroblast growth factor 31, 5 83.87(n)1
    88.58(a)1
      7 (88.85 cM)5
    141741  NM_008007.21  NP_032033.21 
     1448380835 
    chicken
    (Gallus gallus)
    Aves FGF31 fibroblast growth factor 3 69.81(n)
    78.3(a)
      396267  NM_205327.1  NP_990658.1 
    lizard
    (Anolis carolinensis)
    Reptilia FGF36
    Uncharacterized protein
    73(a)
    1 ↔ 1
    1(55137410-55145865)
    African clawed frog
    (Xenopus laevis)
    Amphibia fgf3-A2 Fibroblast growth factor-3 74.28(n)    Z25539.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fgf32 fibroblast growth factor 3 74.62(n)   30549  NM_131291.1 


    ENSEMBL Gene Tree for FGF3 (if available)
    TreeFam Gene Tree for FGF3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FGF3 gene
    FGF122  FGF162  FGF52  FGF202  FGF42  FGF62  FGF92  FGF72  
    FGF112  FGF102  FGF132  FGF222  FGF142  
    13 SIMAP similar genes for FGF3 using alignment to 1 protein entry:     FGF3_HUMAN:
    FGF16    FGF10    FGF9    FGF22    FGF20    FGF7
    FGF5    KGFLP1    PRED3    FGF1    FGF6    FGF2
    FGF4

    FGF3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/325 SNPs in FGF3 are shown (see all 325)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0318484
    Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)4--see VAR_0318482 S P mis40--------
    VAR_0604924
    Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)4--see VAR_0604922 L P mis40--------
    rs1219177031,2
    Cpathogenic169625327(-) ACGTGC/TCTGTG 4 P S mis10--------
    rs1219177041,2
    Cpathogenic169631102(-) GGGGAC/TGACTC 4 R * stg10--------
    rs1219177051,2
    Cpathogenic169633506(-) TCAACG/TGCAGC 4 G C mis10--------
    rs1219177061,2
    Cpathogenic169633685(-) CTGGCC/TGCTAC 4 P L mis10--------
    rs794720691,2
    Cuntested169625447(+) AAACTC/TGCACT 4 K E mis10--------
    rs2012934481,2
    --69624281(+) AAAGT-/AAACTC 2 -- ds50010--------
    rs116025121,2
    C,F,A,H--69624283(+) AGTAAC/ACTCTC 2 -- ds500111Minor allele frequency- A:0.43EA NS WA NA CSA 628
    rs1996071971,2
    --69624283(+) AGTAA-/ACTCTCT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for FGF3 (69624736 - 69634192 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for FGF3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2744699CNV Deletion23290073
    nsv832200CNV Loss17160897
    nsv468624CNV Loss19166990
    nsv897883CNV Loss21882294
    nsv508640CNV Loss20534489
    nsv825973CNV Gain20364138
    nsv832199CNV Gain+Loss17160897


    Human Gene Mutation Database (HGMD): FGF3
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing FGF3:
    Oncogenes & Tumor Suppressor Genes 384HC
    SeqTarget long-range PCR primers for resequencing FGF3
    DNA2.0 Custom Variant and Variant Library Synthesis for FGF3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 164950   
    OMIM disorders: 610706  
    UniProtKB/Swiss-Prot: FGF3_HUMAN, P11487
  • Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]: Unique autosomal
    recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated
    with a complete absence of inner ear structures (Michel aplasia). Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/44 diseases for FGF3 (see all 44):    About MalaCards
    breast squamous cell carcinoma    papillary adenocarcinoma    otodental syndrome    deafness with labyrinthine aplasia microtia and microdontia
    congenital deafness with labyrinthine aplasia, microtia, and microdontia    oculootodental syndrome    microtia    hypochondroplasia
    inner ear disease    achondroplasia    ladd syndrome    kaposi's sarcoma
    thanatophoric dysplasia    bladder transitional cell carcinoma    transitional cell carcinoma    squamous cell carcinoma of the head and neck
    giant cell tumor    coloboma    gastrointestinal stromal tumor    esophageal cancer

    1 disease from the University of Copenhagen DISEASES database for FGF3:
    Hypochondroplasia

    FGF3 for disorders           About GeneDecksing

    10/32 Novoseek inferred disease relationships for FGF3 gene (see all 32)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypochondroplasia 69.4 2 11057021 (1), 16020314 (1)
    parathyroid diseases 50.7 5 11751068 (2), 9597922 (1)
    allelic loss 47.6 1 8509434 (1)
    mammary tumor 46.9 6 11095248 (1), 1317463 (1), 7679760 (1), 8559598 (1)
    breast cancer 45.6 27 10619258 (2), 7740653 (2), 8585979 (2), 1362493 (2) (see all 17)
    tumors 43.4 42 9316622 (2), 17198565 (2), 12201868 (2), 11568558 (2) (see all 26)
    carcinoma squamous cell 41.6 3 9858651 (1), 2193294 (1), 7685625 (1)
    achondroplasia 41.1 1 11057021 (1)
    breast carcinoma 38.6 9 8100712 (2), 1975511 (1), 1362493 (1), 9329619 (1) (see all 6)
    retinoblastoma 30.4 2 9296509 (1), 16020314 (1)

    Genetic Association Database (GAD): FGF3
    Human Genome Epidemiology (HuGE) Navigator: FGF3 (3 documents)
    Tumor Gene Database (TGDB): FGF3

    Export disorders for FGF3 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 FGF3 gene, integrated from 9 sources (see all 173):
    (articles sorted by number of sources associating them with FGF3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. (PubMed id 18435799)1, 2, 9 Tekin M....Duman D. (2008)
    2. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. (PubMed id 17236138)1, 2, 9 Tekin M....Akar N. (2007)
    3. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)
    4. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (2008)
    5. 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)
    6. Receptor specificity of the fibroblast growth factor family. (PubMed id 8663044)1, 2 Ornitz D.M....Goldfarb M. (1996)
    7. Sequence organization of the human int-2 gene and its expression in teratocarcinoma cells. (PubMed id 2470007)1, 2 Brooks S.... Peters G. (1989)
    8. Fibroblast growth factor 3, a protein with a dual subcellular fate, is interacting with human ribosomal protein S2. (PubMed id 16263090)1, 9 Antoine M....Kiefer P. (2005)
    9. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). (PubMed id 18701883)1, 9 Alsmadi O....Al-Sayed M. (2009)
    10. Regulation of FGF-3 gene expression in tumorigenic and non-tumorigenic clones of a human colon carcinoma cell line. (PubMed id 10749884)1, 9 Galdemard C....Lavialle C. (2000)

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

      Query String
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    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: 2248 HGNC: 3681 AceView: FGF3 Ensembl:ENSG00000186895 euGenes: HUgn2248
    ECgene: FGF3 Kegg: 2248 H-InvDB: FGF3

    (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 FGF3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FGF3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FGF3 gene:
    Search GeneIP for patents involving FGF3

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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