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FGFR3 Gene

protein-coding   GIFtS: 78
GCID: GC04P001795

Fibroblast Growth Factor Receptor 3

(Previous names: achondroplasia, thanatophoric dwarfism)
(Previous symbol: ACH)
  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)
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Aliases
Fibroblast Growth Factor Receptor 31 2     CEK22
ACH1 2 5     HSFGFR3EX2
FGFR-32 3     Fibroblast Growth Factor Receptor 3 Variant 42
JTK42 3     Hydroxyaryl-Protein Kinase2
EC 2.7.10.13 8     Tyrosine Kinase JTK42
Achondroplasia, Thanatophoric Dwarfism1     CD333 Antigen3
CD3332     EC 2.7.108

External Ids:    HGNC: 36901   Entrez Gene: 22612   Ensembl: ENSG000000680787   OMIM: 1349345   UniProtKB: P226073   

Export aliases for FGFR3 gene to outside databases

Previous GC identifers: GC04P001787 GC04P001757 GC04P001762 GC04P001725


(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 FGFR3 Gene:
This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence
being highly conserved between members and among divergent species. FGFR family members differ from one another
in their ligand affinities and tissue distribution. A full-length representative protein would consist of an
extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning
segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with
fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis
and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a
role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of
skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have
been described. (provided by RefSeq, Jul 2009)

GeneCards Summary for FGFR3 Gene:
FGFR3 (fibroblast growth factor receptor 3) is a protein-coding gene. Diseases associated with FGFR3 include skeletal dysplasia, san diego type, and muenke syndrome. GO annotations related to this gene include protein tyrosine kinase activity and fibroblast growth factor-activated receptor activity. An important paralog of this gene is FLT4.

UniProtKB/Swiss-Prot: FGFR3_HUMAN, P22607
Function: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an
essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in
the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton
development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in
chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear.
Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades.
Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol
1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates
activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling
pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase
activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling.
Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B.
Secreted isoform 3 retains its capacity to bind FGF1 and FGF2 and hence may interfere with FGF signaling

summary for FGFR3 Gene:
Fibroblast growth factors (FGFs) (FGF1 - 10 and 16 - 23) are mitogenic signaling molecules that have roles
in angiogenesis, wound healing, cell migration, neural outgrowth and embryonic development. FGFs bind
heparan sulfate glycosaminoglycans (HSGAGs), which facilitates dimerization (activation) of FGF receptors
(FGFRs). FGFRs are transmembrane catalytic receptors that have intracellular tyrosine kinase activity. There
are four human genes encoding FGFRs, which produce seven different receptors (FGFR1b, FGFR1c, FGFR2b,
FGFR2c, FGFR3b, FGFR3c and FGFR4) due to alternative splicing events occurring both in the extracellular and
intracellular regions. The alternative splice isoforms are generally tissue specific: the b isoform is
expressed in epithelial tissue, whereas the c isoform is expressed in mesenchymal tissue. HSGAG-FGF-FGFR
binding initiates FGFR dimerization, enabling the cytoplasmic kinase domains to transphosphorylate tyrosine
residues and become activated. HSGAGs also function to stabilize FGF-FGFR binding and prevent FGF
degradation. FGFRs couple to the PLCgamma, MAPK and PI3-K/Akt intracellular signaling cascades and there is
evidence of cross talk with the Notch signaling pathway. In addition, some activated FGF-FGFR complexes are
endocytosed and function directly in the cytosol and/or nucleus of the cell. Mutations in FGFR genes are the
cause of several human developmental disorders characterized by skeletal abnormalities such as
achondroplasia, and upregulation of FGFR expression may lead to cell transformation and cancer.

Gene Wiki entry for FGFR3 (Fibroblast growth factor receptor 3) 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:
NC_000004.12  NT_006051.19  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FGFR3 gene promoter:
         NF-1   NF-1/L   STAT1   AP-1   STAT3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FGFR3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FGFR3


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

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

FGFR3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FGFR3 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P001795:  view genomic region     (about GC identifiers)

Start:
1,795,034 bp from pter      End:
1,810,599 bp from pter
Size:
15,566 bases      Orientation:
plus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FGFR3_HUMAN, P22607 (See protein sequence)
Recommended Name: Fibroblast growth factor receptor 3 precursor  
Size: 806 amino acids; 87710 Da
Subunit: Monomer. Homodimer after ligand binding. Interacts with FGF1, FGF2, FGF4, FGF6; FGF8, FGF9, FGF10, FGF17,
FGF18, FGF19, FGF20 and FGF23 (in vitro). Interacts with KLB. Affinity for fibroblast growth factors (FGFs) is
increased by heparan sulfate glycosaminoglycans that function as coreceptors. Likewise, KLB increases the
affinity for FGF19 and FGF21. Interacts with PIK3R1, PLCG1, SOCS1 and SOCS3. Isoform 3 forms disulfide-linked
dimers
Sequence caution: Sequence=BAD92678.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for FGFR3:
1RY7 (3D)        2LZL (3D)        4K33 (3D)    
Secondary accessions: D3DVP9 D3DVQ0 Q14308 Q16294 Q16608 Q59FL9
Alternative splicing: 4 isoforms:  P22607-1   P22607-2   P22607-3   P22607-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FGFR3: NX_P22607

Explore proteomics data for FGFR3 at MOPED

Post-translational modifications: 

  • Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes
    receptor dimerization and autophosphorylation on tyrosine residues. Autophosphorylation occurs in trans between
    the two FGFR molecules present in the dimer. Phosphorylation at Tyr-724 is essential for stimulation of cell
    proliferation and activation of PIK3R1, STAT1 and MAP kinase signaling. Phosphorylation at Tyr-760 is required
    for interaction with PIK3R1 and PLCG11
  • Ubiquitinated. Is rapidly ubiquitinated after ligand binding and autophosphorylation, leading to receptor
    internalization and degradation. Subject to both proteasomal and lysosomal degradation1
  • N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant
    form in the Golgi apparatus1
  • Glycosylation2 at Asn98, Asn225, Asn262, Asn294, Asn315, Asn328
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for FGFR3 (P22607) (see all 40)
     SHHSAWL  QVARGME  SGDDSVF  NTVRFRC 


    See FGFR3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000133.1  NP_001156685.1  NP_075254.1  

    ENSEMBL proteins: 
     ENSP00000420533   ENSP00000260795   ENSP00000231803   ENSP00000427289   ENSP00000339824  
     ENSP00000414914   ENSP00000412903  
    Reactome Protein details: P22607

    FGFR3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for FGFR3
    OriGene MassSpec for FGFR3
    OriGene Custom Protein Services for FGFR3
    GenScript Custom Purified and Recombinant Proteins Services for FGFR3
    Novus Biologicals FGFR3 Proteins
    Novus Biologicals FGFR3 Lysate
    Sino Biological Recombinant Protein for FGFR3
    Sino Biological Cell Lysate for FGFR3
    ProSpec Recombinant Protein for FGFR3
    Cloud-Clone Corp. Proteins for FGFR3

    FGFR3 Antibody Products:

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    Cell Signaling Technology (CST) Antibodies for FGFR3 
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    OriGene Custom Antibody Services for FGFR3
    Novus Biologicals FGFR3 Antibodies
    Abcam antibodies for FGFR3
    Cloud-Clone Corp. Antibodies for FGFR3
    ThermoFisher Antibody for FGFR3
    LSBio Antibodies in human, mouse, rat for FGFR3

    FGFR3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    R&D Systems ELISAs for FGFR3 (FGF R3)         (see all)
    GenScript FGFR3-Activity-based Kinase Assay for Compound Screening
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FGFR3
    Cloud-Clone Corp. CLIAs for FGFR3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    ISET: Immunoglobulin superfamily / I-set domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: fibroblast growth factor receptor 3
    FGF (fibroblast growth factor) receptor family
    FGF (fibroblast growth factor) receptor family

    Selected InterPro protein domains (see all 14):
     IPR003598 Ig_sub2
     IPR017441 Protein_kinase_ATP_BS
     IPR013098 Ig_I-set
     IPR011009 Kinase-like_dom
     IPR028176 FGF_rcpt_3

    Graphical View of Domain Structure for InterPro Entry P22607

    ProtoNet protein and cluster: P22607

    3 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB008266 Tyrosine protein kinase
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: FGFR3_HUMAN, P22607
    Domain: The second and third Ig-like domains directly interact with fibroblast growth factors (FGF) and heparan
    sulfate proteoglycans
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor
    receptor subfamily
    Similarity: Contains 3 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 protein kinase domain


    FGFR3 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FGFR3_HUMAN, P22607
    Function: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an
    essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in
    the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton
    development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in
    chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear.
    Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades.
    Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol
    1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates
    activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling
    pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase
    activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling.
    Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B.
    Secreted isoform 3 retains its capacity to bind FGF1 and FGF2 and hence may interfere with FGF signaling
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme regulation: Present in an inactive conformation in the absence of bound ligand. Ligand binding leads to
    dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by SU5402

         Genatlas biochemistry entry for FGFR3:
    fibroblast growth factor receptor 3,with two isoforms FGFRIIIb,FGFRIIIc,chicken embryo kinase (CEK)
    homolog,negative regulator of bone growth playing oncogenic role in bladder and cervix carcinomas

         Enzyme Numbers (IUBMB): EC 2.7.10.11 2 EC 2.7.102

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity IDA11294897
    GO:0005007fibroblast growth factor-activated receptor activity IMP8663044
    GO:0005515protein binding IPI14732692
    GO:0005524ATP binding IEA--
         
    FGFR3 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for FGFR3:
     Decreased cell spreading  Decreased substrate adherent c  Decreased telomerase activity 

         Selected MGI mutant phenotypes (inferred from 24 alleles(MGI details for Fgfr3) (see all 21):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  growth/size/body 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis  normal 

    FGFR3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FGFR3: Fgfr3tm6.2Cxd Fgfr3tm1Schl Fgfr3tm2Schl Fgfr3tm1Dor Fgfr3tm1Led Fgfr3tm6Cxd

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FGFR3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FGFR3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FGFR3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FGFR3

    miRNA
    Products:
        
    miRTarBase miRNAs that target FGFR3:
    hsa-mir-100-5p (MIRT003419), hsa-mir-26b-5p (MIRT030099), hsa-mir-99a-5p (MIRT004243)

    Block miRNA regulation of human, mouse, rat FGFR3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FGFR3 (see all 44):
    hsa-miR-4254 hsa-miR-488 hsa-miR-138-2* hsa-miR-548m hsa-miR-4274 hsa-miR-186 hsa-miR-3116 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidFGFR3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FGFR3
    Predesigned siRNA for gene silencing in human, mouse, rat FGFR3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FGFR3

    Clone
    Products:
         
    OriGene clones in human, mouse for FGFR3 (see all 24)
    OriGene ORF clones in mouse, rat for FGFR3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): FGFR3 (NM_000142)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FGFR3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FGFR3

    Cell Line
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    ESI BIO PureStem Progenitors for FGFR3: 
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGFR3


    (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
    FGFR3_HUMAN, P22607: Isoform 1: Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle.
    Endoplasmic reticulum. Note=The activated receptor is rapidly internalized and degraded. Detected in
    intracellular vesicles after internalization of the autophosphorylated receptor
    FGFR3_HUMAN, P22607: Isoform 2: Cell membrane; Single-pass type I membrane protein (By similarity)
    FGFR3_HUMAN, P22607: Isoform 3: Secreted
    FGFR3_HUMAN, P22607: Isoform 4: Cell membrane; Single-pass type I membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    extracellular2
    lysosome2
    nucleus2
    vacuole2
    cytoskeleton1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005764lysosome IEA--
    GO:0005783endoplasmic reticulum IEA--

    FGFR3 for ontologies           About GeneDecksing


    (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 FGFR3 About   (see all 45)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1FGFR ligand binding and activation
    FGFR ligand binding and activation0.79
    Negative regulation of FGFR signaling0.56
    SHC-mediated cascade0.79
    Development FGF family signaling0.43
    FRS2-mediated cascade0.70
    2Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    3Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Actin-Based Motility by Rho Family GTPases0.62
    Apoptotic Pathways in Synovial Fibroblasts0.84
    ERK5 Signaling0.61
    p53 Mediated Apoptosis0.84
    eIF2 Pathway0.60
    4PI-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
    5Signaling 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for FGFR3
        Akt Signaling Pathway

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for FGFR3 (see all 60)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    2 Cell Signaling Technology (CST) Pathways for FGFR3
        Angiogenesis
    Tyrosine Kinases / Adaptors

    3 Tocris Bioscience Pathways for FGFR3
        Akt Pathway
    Apoptosis Pathway
    NF-kappaB Pathway

    1 GeneGo (Thomson Reuters) Pathway for FGFR3
        Development FGF-family signaling

    3 BioSystems Pathways for FGFR3
        Neural Crest Differentiation
    Endochondral Ossification
    Regulation of Actin Cytoskeleton


    Selected Reactome Pathways for FGFR3 (see all 14)
        Signaling by FGFR mutants
    PI3K Cascade
    t(4 14) translocations of FGFR3
    Phospholipase C-mediated cascade
    FRS2-mediated cascade

    2 PharmGKB Pathways for FGFR3
        VEGF Signaling Pathway
    Vemurafenib Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for FGFR3) (see all 9):
        MAPK signaling pathway
    Ras signaling pathway
    Rap1 signaling pathway
    Endocytosis
    PI3K-Akt signaling pathway


    FGFR3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FGFR3: 
              Hedgehog Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat
              Angiogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FGFR3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FGFR3 (P226071, 2, 3 ENSP000002607954) via UniProtKB, MINT, STRING, and/or I2D (see all 215)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GPSM3Q9Y4H42, 3, ENSP000003641804MINT-62616 MINT-62790 MINT-62714 I2D: score=4 STRING: ENSP00000364180
    ENSG00000206314Q9Y4H42, 3MINT-62616 MINT-62790 MINT-62714 I2D: score=4 
    ENSG00000233490Q9Y4H42, 3MINT-62616 MINT-62790 MINT-62714 I2D: score=4 
    ENSG00000234243Q9Y4H42, 3MINT-62616 MINT-62790 MINT-62714 I2D: score=4 
    ENSG00000234508Q9Y4H42, 3MINT-62616 MINT-62790 MINT-62714 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 62):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0000165MAPK cascade IEA--
    GO:0001501skeletal system development TAS8601314
    GO:0001938positive regulation of endothelial cell proliferation IEA--
    GO:0001958endochondral ossification TAS15748888

    FGFR3 for ontologies           About GeneDecksing



    (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
    Selected ApexBio Compounds for FGFR3 (see all 13)     About this table
    CompoundAction CAS #
    AP26113Dual inhibitor of anaplastic lymphoma kinase (ALK) and epidermal growth factor receptor (EGFR)[1197958-12-5]
    AZD4547Potent, selective, and ATP-competitive FGFR inhibitor[1035270-39-3]
    BGJ398FGFR inhibitor [872511-34-7]
    Danusertib (PHA-739358)Pan-aurora kinase inhibitor[827318-97-8]
    Dovitinib (TKI-258, CHIR-258)novel multitargeted growth factor receptor kinase inhibitor of FLT3, c-KIT, FGFR1/3, VEGFR1/2/3[405169-16-6]
    E-3810novel dual inhibitor targeting VEGFRs and FGFRs[1058137-23-7]
    Fenretinidesynthetic retinoid deriverative. [65646-68-6]
    LY2874455novel and potent FGF/FGFR Inhibitor. [1254473-64-7]
    Nintedanib (BIBF 1120)Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR[928326-83-4]
    Pazopanib (GW-786034)Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR[635702-64-6]

    Compounds for FGFR3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PD 161570Selective FGFR inhibitor[192705-80-9]
    PD 173074FGFR1 and -3 inhibitor[219580-11-7]
    FIIN 1 hydrochloride Potent, irreversible FGFR inhibitor [1256152-35-8]
    SU 5402Potent FGFR and VEGFR inhibitor[215543-92-3]

    2 HMDB Compounds for FGFR3    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    3 DrugBank Compounds for FGFR3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    PaliferminFGF-7 (see all 5)162394-19-6target--7680555 7890137 11422746 11149756 10821861
    PazopanibGW-786034 (see all 2)444731-52-6targetinhibitor23072642
    Ponatinib -- 943319-70-8targetinhibitor23468082

    Selected Novoseek inferred chemical compound relationships for FGFR3 gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pd 173074 86.9 26 19955487 (3), 19901323 (2), 14715624 (2), 15029211 (1) (see all 6)
    su5402 71 9 14871245 (5), 15029211 (1), 19594619 (1)
    tyrosine 63.1 111 19223461 (5), 11294897 (4), 17785202 (3), 18156174 (3) (see all 59)
    bortezomib 43.5 1 19331127 (1)
    thalidomide 28.4 14 18360564 (8), 19070887 (2)
    arginine 28.3 14 11472579 (1), 12816345 (1), 7913883 (1), 11556601 (1) (see all 10)
    vegf 17.8 7 12624952 (1), 15788896 (1), 10901203 (1), 12500263 (1) (see all 6)
    cysteine 11.2 11 12009017 (3), 16912704 (1), 12833394 (1), 17122868 (1) (see all 7)
    lipid 5.23 7 16950849 (1), 18559252 (1), 17845056 (1), 16634636 (1) (see all 5)
    imatinib 2.44 2 14562121 (1)



    FGFR3 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for FGFR3 gene (3 alternative transcripts): 
    NM_000142.4  NM_001163213.1  NM_022965.3  

    Unigene Cluster for FGFR3:

    Fibroblast growth factor receptor 3
    Hs.1420  [show with all ESTs]
    Unigene Representative Sequence: NM_001163213
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000481110 ENST00000260795(uc010icb.1 uc003gdt.1) ENST00000352904
    ENST00000507588 ENST00000474521 ENST00000469068 ENST00000340107(uc003gdu.2)
    ENST00000440486(uc003gdr.3 uc003gdq.3) ENST00000412135(uc003gds.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FGFR3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FGFR3 (see all 44):
    hsa-miR-4254 hsa-miR-488 hsa-miR-138-2* hsa-miR-548m hsa-miR-4274 hsa-miR-186 hsa-miR-3116 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidFGFR3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FGFR3
    Predesigned siRNA for gene silencing in human, mouse, rat FGFR3
    Clone
    Products:
         
    OriGene clones in human, mouse for FGFR3 (see all 24)
    OriGene ORF clones in mouse, rat for FGFR3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): FGFR3 (NM_000142)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FGFR3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FGFR3
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for FGFR3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FGFR3
      QuantiTect SYBR Green Assays in human, mouse, rat FGFR3
      QuantiFast Probe-based Assays in human, mouse, rat FGFR3

    Additional mRNA sequence: 

    AB209441.1 AF238374.1 AF245114.1 AF369211.1 AF369212.1 AF369213.1 AK308936.1 BC121175.2 
    BC128610.1 BC153824.1 HM244683.1 M58051.1 M59374.1 M64347.1 X84939.1 

    8 DOTS entries:

    DT.95166079  DT.101980674  DT.100022521  DT.95166080  DT.75155534  DT.121271416  DT.121271450  DT.91776752 

    Selected AceView cDNA sequences (see all 132):

    BG059722 BQ574240 BQ021570 AA587307 AI655715 CB851497 BF197382 BG403404 
    AI343936 BQ446455 AI969759 BF762956 BM969149 CD674871 BG289397 BM982604 
    X84939 BF057214 AI659722 AI638209 AI057095 AF369213 AL043614 BU683104 

    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)
    About This Section

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    FGFR3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGCCAGAG
    FGFR3 Expression
    About this image


    FGFR3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 26 entries
             Presumptive Suture Cells Rostral Sutures
             Mandibular Condyle
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 19 entries
             Prechondrocytes Synchondroses
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Neural Tube (Nervous System)    fully expand to see all 13 entries
             Anterior Entopeduncular Progenitor Cells Anterior Entopeduncular Area
             Mesencephalic Roof Plate
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
             Medulla Oblongata
             N2/LSB/S/F8-induced cells
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+BMP4-induced SM30 cells
    FGFR3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FGFR3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1420

    UniProtKB/Swiss-Prot: FGFR3_HUMAN, P22607
    Tissue specificity: Expressed in brain, kidney and testis. Very low or no expression in spleen, heart, and muscle.
    In 20- to 22-week old fetuses it is expressed at high level in kidney, lung, small intestine and brain, and to a
    lower degree in spleen, liver, and muscle. Isoform 2 is detected in epithelial cells. Isoform 1 is not detected
    in epithelial cells. Isoform 1 and isoform 2 are detected in fibroblastic cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FGFR3: 
              Hedgehog Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat
              Angiogenesis in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FGFR3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FGFR3
    QuantiTect SYBR Green Assays in human, mouse, rat FGFR3
    QuantiFast Probe-based Assays in human, mouse, rat FGFR3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGFR3

    (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 animals.

    Orthologs for FGFR3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fgfr31 , 5 fibroblast growth factor receptor 31, 5 85.63(n)1
    93.37(a)1
      5 (17.83 cM)5
    141841  NM_001163215.21  NP_001156687.11 
     337217245 
    chicken
    (Gallus gallus)
    Aves FGFR31 fibroblast growth factor receptor 3 74.74(n)
    81.37(a)
      396515  NM_205509.2  NP_990840.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.87602 Xenopus laevis mRNA for FGF receptor 3, complete cds 80.94(n)    AB007035.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fgfr32 fibroblast growth factor receptor 3 77.76(n)   58129  AF157560.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tor3
    htl1
    eggshell pattern formation
    transmembrane receptor more3
    heartless1
    52(a)
    (best of 3)3
    52.96(n)1
    45.73(a)1
      43E123
    421601  NM_169784.11  NP_732286.11 
    worm
    (Caenorhabditis elegans)
    Secernentea egl-151 , 3 IG (immunoglobulin) superfamily (3
    domains), protein more3
    egl-151
    39(a)
    (best of 20)3
    45.17(n)1
    43.74(a)1
      X(11051669-11057121)3
    1812911  NM_001029552.21  NP_001024723.11 


    ENSEMBL Gene Tree for FGFR3 (if available)
    TreeFam Gene Tree for FGFR3 (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 FGFR3 gene
    FLT42  FGFR42  PDGFRB2  CSF1R2  KIT2  PDGFRA2  RET2  KDR2  
    FGFR12  FGFR22  FLT32  FLT12  
    Selected SIMAP similar genes for FGFR3 using alignment to 12 protein entries:     FGFR3_HUMAN (see all proteins) (see all similar genes):
    FGFR1    K-SAM    FGFR2    TK25    BEK    FGFR-4
    FGFR4    FLT1    ABL1    CCDC6-RETa    CCDC6-RETc    RET/PTC2
    KIT    R12    urf-ret    FGFRL1    RET    BTK kinase deficient isoform 6

    FGFR3 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for FGFR3 (see all 7)
    PGOHUM00000242432 PGOHUM00000248856 PGOHUM00000245293 PGOHUM00000247587 PGOHUM00000237874


    (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)
    About This Section

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    Selected SNPs for FGFR3 (see all 1103)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs46479241,2,,4
    CMuenke syndrome (MNKS)4 pathogenic11803571(+) CTCCCC/GGCACC 6 P R mis1 ese32Minor allele frequency- G:0.00NA 42
    rs289316141,2,,4
    CKeratinocytic non-epidermolytic nevus (KNEN)4 pathogenic11806119(+) GCTACA/C/GGGGTG 7 R G mis1 int1 ese30--------
    rs289316151,2,,4
    CCrouzon syndrome with acanthosis nigricans (CAN)4 pathogenic11806153(+) GGTGGA/CGGCTG 5 E A mis1 int1 ese30--------
    rs289330681,2,,4
    CHypochondroplasia (HCH)4 pathogenic11807371(+) ATCAAA/C/GCTGCT 9 K N mis10--------
    VAR_0041534
    Thanatophoric dysplasia 1 (TD1)4--see VAR_0041532 Y C mis40--------
    VAR_0041484
    Thanatophoric dysplasia 1 (TD1)4--see VAR_0041482 R C mis40--------
    VAR_0422084
    A colorectal adenocarcinoma sample4--see VAR_0422082 C R mis40--------
    VAR_0041494
    Thanatophoric dysplasia 1 (TD1)4--see VAR_0041492 S C mis40--------
    VAR_0041594
    Hypochondroplasia (HCH)4--see VAR_0041592 N T mis40--------
    VAR_0422074
    A lung adenocarcinoma sample4--see VAR_0422072 T S mis40--------

    HapMap Linkage Disequilibrium report for FGFR3 (1795034 - 1810599 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FGFR3 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508989CNV Insertion20534489
    nsv878417CNV Loss21882294
    dgv5419n71CNV Loss21882294
    nsv829836CNV Loss17160897
    dgv5416n71CNV Loss21882294
    nsv878347CNV Loss21882294
    nsv822437CNV Loss20364138
    nsv878400CNV Loss21882294
    nsv878328CNV Loss21882294
    dgv5418n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): FGFR3
    Selected Site Specific Mutation Identification with PCR Assays for FGFR3 (see all 14):
    Cosmic IdAA Change
    719p.K650E
    24842p.G380R
    726p.K650Q
    716p.G370C
    24802p.G697C
    Selected Site Specific Cancer Mutation PCR Panels containing FGFR3 (see all 10):
    FGFR Pathway
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    Receptor Tyrosine Kinase (RTK) (Panel I)
    Tyrosine Kinases & Cell Signaling Pathways Panel 384HT
    SeqTarget long-range PCR primers for resequencing FGFR3
    DNA2.0 Custom Variant and Variant Library Synthesis for FGFR3

    (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: 134934   
    OMIM disorders: 100800  146000  187600  612247  602849  109800  114500  603956  149730  610474  162900  187601  273300  
    UniProtKB/Swiss-Prot: FGFR3_HUMAN, P22607
  • Achondroplasia (ACH) [MIM:100800]: A frequent form of short-limb dwarfism. It is characterized by a long,
    narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal
    bossing, hypoplasia of the midface and a trident configuration of the hands. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247]: Classic Crouzon disease which is caused by
    mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and
    facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation
    anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized
    by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or
    stenosis of the choanas, and is caused by a specific mutation (Ala-391 to Glu) in the transmembrane domain of
    FGFR3. It is proposed to have an autosomal dominant mode of inheritance. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Thanatophoric dysplasia 1 (TD1) [MIM:187600]: A neonatal lethal skeletal dysplasia. Affected individuals
    manifest severe shortening of the limbs with macrocephaly, narrow thorax, short ribs, and curved femurs. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Thanatophoric dysplasia 2 (TD2) [MIM:187601]: A neonatal lethal skeletal dysplasia causing severe
    shortening of the limbs, narrow thorax and short ribs. Patients with thanatophoric dysplasia type 2 have straight
    femurs and cloverleaf skull. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Hypochondroplasia (HCH) [MIM:146000]: Autosomal dominant disease and is characterized by disproportionate
    short stature. It resembles achondroplasia, but with a less severe phenotype. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Bladder cancer (BLC) [MIM:109800]: A malignancy originating in tissues of the urinary bladder. It often
    presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder
    cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the
    bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells)
    and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is
    a complex disorder with both genetic and environmental influences. Note=Disease susceptibility is associated with
    variations affecting the gene represented in this entry. Somatic mutations can constitutively activate FGFR3
  • Cervical cancer (CERCA) [MIM:603956]: A malignant neoplasm of the cervix, typically originating from a
    dysplastic or premalignant lesion previously present at the active squamocolumnar junction. The transformation
    from mild dysplastic to invasive carcinoma generally occurs slowly within several years, although the rate of
    this process varies widely. Carcinoma in situ is particularly known to precede invasive cervical cancer in most
    cases. Cervical cancer is strongly associated with infection by oncogenic types of human papillomavirus. Note=The
    gene represented in this entry is involved in disease pathogenesis
  • Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]: Autosomal dominant
    syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall
    stature, scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental delay
    and/or mental retardation, and several of these have microcephaly. Radiographic findings included tall vertebral
    bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each
    tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was
    congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe.
    Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are
    structurally normal. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Multiple myeloma (MM) [MIM:254500]: A malignant tumor of plasma cells usually arising in the bone marrow
    and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and
    anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord
    compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high
    prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of
    diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. Note=The gene
    represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving FGFR3 is
    found in multiple myeloma. Translocation t(4;14)(p16.3;q32.3) with the IgH locus
  • Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]: An autosomal dominant ectodermal dysplasia,
    a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures.
    Lacrimo-auriculo-dento-digital syndrome is characterized by aplastic/hypoplastic lacrimal and salivary glands and
    ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In
    addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and
    abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]: Epidermal nevi of the common, non-organoid and
    non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion
    to widespread and systematized involvement. They may be present at birth or develop early during childhood.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Muenke syndrome (MNKS) [MIM:602849]: A condition characterized by premature closure of coronal suture of
    skull during development (coronal craniosynostosis), which affects the shape of the head and face. It may be uni-
    or bilateral. When bilateral, it is characterized by a skull with a small antero-posterior diameter
    (brachycephaly), often with a decrease in the depth of the orbits and hypoplasia of the maxillae. Unilateral
    closure of the coronal sutures leads to flattening of the orbit on the involved side (plagiocephaly). The
    intellect is normal. In addition to coronal craniosynostosis some affected individuals show skeletal
    abnormalities of hands and feet, sensorineural hearing loss, mental retardation and respiratory insufficiency.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Keratosis, seborrheic (KERSEB) [MIM:182000]: A common benign skin tumor. Seborrheic keratoses usually
    begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or
    numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty
    surface with multiple plugged follicles and a dull or lackluster appearance. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Testicular germ cell tumor (TGCT) [MIM:273300]: A common malignancy in males representing 95% of all
    testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell
    neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal
    carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. Note=The gene represented in this entry may be involved
    in disease pathogenesis

  • Selected diseases for FGFR3 (see all 138):    
    About MalaCards
    skeletal dysplasia, san diego type    muenke syndrome    achondroplasia    dermatosis papulosa nigra
    thanatophoric dysplasia type 2    hypochondroplasia    thanatophoric dysplasia    crouzonodermoskeletal syndrome
    kleeblattschaedel syndrome    camptodactyly, tall stature, and hearing loss syndrome    fgfr3-related isolated coronal synostosis    cervical cancer, somatic
    seborrheic keratosis    thanatophoric dysplasia type 1    fgfr3-related craniosynostosis    spermatocytic seminoma, somatic
    epidermal nevus, somatic    saddan    fgfr-related craniosynostosis syndromes    bladder cancer, somatic

    11 diseases from the University of Copenhagen DISEASES database for FGFR3:
    Achondroplasia     Thanatophoric dysplasia     Hypochondroplasia     Craniosynostosis
    Acrocephalosyndactylia     Acanthosis nigricans     Multiple myeloma     Urinary bladder cancer
    Bladder transitional cell papilloma     Monoclonal gammopathy of uncertain significance     Carcinoma

    FGFR3 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for FGFR3 gene (see all 82)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    achondroplasia 97.3 267 12921294 (4), 18199430 (4), 12816345 (3), 7758520 (3) (see all 99)
    thanatophoric dysplasia 97.1 136 19449430 (4), 8723101 (3), 9055906 (2), 17375526 (2) (see all 78)
    hypochondroplasia 96.7 112 11071087 (5), 9055906 (4), 8723101 (3), 7670477 (3) (see all 52)
    muenke syndrome 93.4 14 18000976 (1), 16251895 (1), 12794698 (1), 17103449 (1) (see all 11)
    skeletal dysplasia 92.1 84 15772091 (3), 11526491 (2), 9438390 (2), 9887329 (2) (see all 50)
    craniosynostosis 89.7 83 11197897 (4), 9107244 (3), 9600744 (3), 14629875 (2) (see all 53)
    dwarfism 89.4 77 12354143 (3), 10587515 (2), 11181569 (2), 12929929 (2) (see all 46)
    crouzon syndrome 86.5 28 7493034 (3), 11426459 (2), 10696568 (2), 8880573 (2) (see all 18)
    jackson-weiss syndrome 85.3 1 11571861 (1)
    acanthosis nigricans 84.1 49 11426459 (2), 17875876 (2), 8880573 (2), 9182787 (2) (see all 27)

    GeneTests: FGFR3
    GeneReviews: FGFR3
    Genetic Association Database (GAD): FGFR3
    Human Genome Epidemiology (HuGE) Navigator: FGFR3 (44 documents)

    Export disorders for FGFR3 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 FGFR3 gene, integrated from 10 sources (see all 819):
    (articles sorted by number of sources associating them with FGFR3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3. (PubMed id 1847508)1, 2, 3 Keegan K.... Hayman M.J. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    2. No mutations of FGFR3 in normal urothelium in the vicinity of urothelial carcinoma of the bladder harbouring activating FGFR3 mutations in patients with bladder cancer. (PubMed id 19621447)1, 4, 9 Otto W....Stoehr R. (Int. J. Cancer 2009)
    3. Fibroblast growth factor receptor 3 mutation in voided urine is a useful diagnostic marker and significant indicator of tumor recurrence in non-muscle invasive bladder cancer. (PubMed id 19843069)1, 4, 9 Miyake M....Hirao Y. (Cancer Sci. 2010)
    4. Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1. (PubMed id 17561467)1, 2, 9 Harada D....Tanaka H. (Bone 2007)
    5. The development of multiple bladder tumour recurrences in relation to the FGFR3 mutation status of the primary tumour. (PubMed id 19156776)1, 4, 9 Kompier L.C....Zwarthoff E.C. (J. Pathol. 2009)
    6. FGFR3 mutations in prostate cancer: association with low-grade tumors. (PubMed id 19377444)1, 4, 9 HernA!ndez S....Lloreta J. (Mod. Pathol. 2009)
    7. [Correlation of FGFR3 mutations and chromosomal alterations in bladder cancer]. (PubMed id 17867592)1, 4, 9 Junker K....Hartmann A. (Verh Dtsch Ges Pathol 2006)
    8. Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. (PubMed id 11314002)1, 2, 9 Sibley K.... Knowles M.A. (Oncogene 2001)
    9. Occupational exposure to polycyclic aromatic hydrocarbons influenced neither the frequency nor the spectrum of FGFR3 mutations in bladder urothelial carcinoma. (PubMed id 19722178)1, 4, 9 Bakkar A.A....Pairon J.C. (Mol. Carcinog. 2010)
    10. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. (PubMed id 16841094)1, 2, 9 Hafner C.... Hartmann A. (J. Clin. Invest. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2261 HGNC: 3690 AceView: FGFR3 Ensembl:ENSG00000068078 euGenes: HUgn2261
    ECgene: FGFR3 Kegg: 2261 H-InvDB: FGFR3

    (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)
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    NameDescription
    PharmGKB entry for FGFR3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FGFR3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FGFR3[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fgfr3/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FGFR3 gene:
    Search GeneIP for patents involving FGFR3

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



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