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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)
  See FGF3-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 oculootodental syndrome, and otodental syndrome. GO annotations related to this gene include growth factor activity and fibroblast growth factor receptor binding. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   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 Chromatin IP Primers for FGF3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Glycosylation2 at Asn65

  • See FGF3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005238.1  
    ENSEMBL proteins: 
     ENSP00000334122  
    Reactome Protein details: P11487

    FGF3 Human Recombinant Protein Products:

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    antibodies-online peptides for FGF3

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR028142 IL-1_fam/FGF_fam
     IPR028232 FGF3
     IPR008996 Cytokine_IL1-like
     IPR002209 Fibroblast_GF_fam

    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


    Find genes that share domains with FGF3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:
                
    Head Mesenchyme: Dental Mesenchymal Cells (Branchial Arch 1)

    It affects the following cells:
    Tooth: Stellate Reticulum Cells (Dental Core)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005104fibroblast growth factor receptor binding IEA--
    GO:0005515protein binding IPI16263090
    GO:0008083growth factor activity IEA--
         
    Find genes that share ontologies with FGF3           About GenesLikeMe


    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/body  hearing/vestibular/ear  limbs/digits/tail 
     mortality/aging  nervous system  no phenotypic analysis  normal  reproductive system 
     skeleton 

    Find genes that share phenotypes with FGF3           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for FGF3

    miRNA
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    miRTarBase miRNAs that target FGF3:
    hsa-mir-328-3p (MIRT043743)

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    SwitchGear 3'UTR luciferase reporter plasmidFGF3 3' UTR sequence
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    Predesigned siRNA for gene silencing in human, mouse, rat FGF3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: FGF3 (NM_005247)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGF3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FGF3_HUMAN, P11487: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    golgi apparatus2
    cytosol1
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with FGF3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for FGF3 About   (see all 21)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1FGFR ligand binding and activation
    FGFR ligand binding and activation0.79
    FGFR1b ligand binding and activation0.00
    SHC-mediated cascade0.79
    FGFR1 ligand binding and activation0.00
    FGFR2 ligand binding and activation0.74
    FGFR2b ligand binding and activation0.00
    FRS2-mediated cascade0.70
    Activated point mutants of FGFR20.00
    2Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    3PI-3K cascade
    PI3K/AKT activation0.93
    PI3K/AKT Signaling in Cancer0.88
    GAB1 signalosome0.93
    PI3K events in ERBB4 signaling0.88
    Constitutive PI3K/AKT Signaling in Cancer0.88
    Role of LAT2/NTAL/LAB on calcium mobilization0.80
    PIP3 activates AKT signaling0.88
    Signaling by SCF-KIT0.72
    4Signaling by FGFR
    Signaling by FGFR0.91
    DAP12 interactions0.89
    Signaling by FGFR in disease0.91
    Signaling by PDGF0.87
    Downstream signaling of activated FGFR0.91
    Signaling by EGFR0.83
    Downstream signal transduction0.90
    Signaling by EGFR in Cancer0.82
    5Insulin receptor signalling cascade
    Insulin receptor signalling cascade0.94
    IGF1R signaling cascade0.92
    IRS-related events0.94
    IRS-related events triggered by IGF1R0.92
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.92
    PI3K Cascade0.87
    IRS-mediated signalling0.92
    Signaling by Insulin receptor0.80


    Find genes that share SuperPaths with FGF3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe 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

    Selected Reactome Pathways for FGF3 (see all 12)
        Signaling by FGFR mutants
    PI3K Cascade
    Phospholipase C-mediated cascade
    FRS2-mediated cascade
    FGFR2b ligand binding and activation


    Selected Kegg Pathways  (Kegg details for FGF3) (see all 8):
        MAPK signaling pathway
    Ras signaling pathway
    Rap1 signaling pathway
    PI3K-Akt signaling pathway
    Regulation of actin cytoskeleton

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FGF3: 
              Growth Factors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FGF3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for FGF3 (P114873 ENSP000003341224) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    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): Selected biological process terms (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

    Find genes that share ontologies with FGF3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with FGF3           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat FGF3

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FGF3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 6) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             Odontoblasts Dentin
     
     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
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Head Mesenchyme (Muscoskeletal System)
             Branchial Arch 2
    FGF3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FGF3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.37092
        Pathway & Disease-focused RT2 Profiler PCR Arrays including FGF3: 
              Growth Factors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Stem Cells in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FGF3
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for FGF3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fgf31 , 5 fibroblast growth factor 31, 5 83.57(n)1
    87.92(a)1
      7 (88.85 cM)5
    141741  NM_008007.21  NP_032033.21 
     1448380835 
    chicken
    (Gallus gallus)
    Aves FGF31 fibroblast growth factor 3 69.83(n)
    78.5(a)
      396267  NM_205327.1  NP_990658.1 
    lizard
    (Anolis carolinensis)
    Reptilia FGF36
    fibroblast growth factor 3
    74(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

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    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

    Find genes that share paralogs with FGF3           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FGF3 (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
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    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

  • 13 diseases for FGF3:    
    About MalaCards
    oculootodental syndrome    otodental syndrome    congenital deafness with labyrinthine aplasia, microtia, and microdontia    papillary adenocarcinoma
    microtia    hypochondroplasia    bladder transitional cell carcinoma    achondroplasia
    thanatophoric dysplasia    kaposi's sarcoma    transitional cell carcinoma    giant cell tumor
    endometrial carcinoma

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

    Find genes that share disorders with FGF3           About GenesLikeMe

    Selected 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)
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    PubMed articles for FGF3 gene, integrated from 10 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. (Clin. Genet. 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. (Am. J. Hum. Genet. 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. (J. Bone Miner. Res. 2009)
    4. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 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. (Genome Res. 2004)
    6. Receptor specificity of the fibroblast growth factor family. (PubMed id 8663044)1, 2 Ornitz D.M.... Goldfarb M. (J. Biol. Chem. 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. (Oncogene 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. (Biochem. Biophys. Res. Commun. 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. (Eur. J. Hum. Genet. 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. (J. Biol. Chem. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 2248 HGNC: 3681 AceView: FGF3 Ensembl:ENSG00000186895 euGenes: HUgn2248
    ECgene: FGF3 Kegg: 2248 H-InvDB: FGF3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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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