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

FGFR3 Gene

protein-coding   GIFtS: 79
GCID: GC04P001795

fibroblast growth factor receptor 3

(Previous names: achondroplasia, thanatophoric dwarfism )
(Previous symbol: ACH)
 Explore 134 diseases affiliated with
FGFR3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FGFR3    

Aliases
for FGFR3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Fibroblast Growth Factor Receptor 31 2     Achondroplasia, Thanatophoric Dwarfism1
JTK41 2 3     HSFGFR3EX2
ACH1 2 5     Fibroblast Growth Factor Receptor 3 Variant 42
CD3331 2     Hydroxyaryl-Protein Kinase2
CEK21 2     Tyrosine Kinase JTK42
FGFR-32 3     CD333 Antigen3
EC 2.7.10.13 8     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


Summaries
for FGFR3 gene

(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 FGFR3:
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)

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

summary for FGFR3:
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)


Genomic Views
for FGFR3 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006051.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FGFR3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for FGFR3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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
Subcellular location: 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
Sequence caution: Sequence=BAD92678.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for FGFR3:
1RY7 (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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P22607

    • 4/40 DME Specific Peptides for FGFR3 (P22607) (see all 40)
     SHHSAWL  QVARGME  SGDDSVF  NTVRFRC 

    FGFR3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant FGFR3 Protein
    R&D Systems Recombinant & Natural Proteins for FGFR3 (FGF R3)
    Enzo Life Sciences proteins for FGFR3
    OriGene Purified Proteins (see all 2): FGFR3
    OriGene Protein Over-expression Lysate: FGFR3
    OriGene Custom Protein Services for FGFR3 
    GenScript Purified and Recombinant Proteins for FGFR3
    Novus Biologicals FGFR3 Proteins
    Novus Biologicals FGFR3 Lysate
    Sino Biological Recombinant Protein for FGFR3
    ProSpec Recombinant Protein for FGFR3
    Uscn Proteins for FGFR3

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IEA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IDA8663044
    GO:0005925colocalizes with focal adhesion TAS15748888


    FGFR3 for ontologies           About GeneDecksing



    FGFR3 Antibody Products: 
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    R&D Systems Antibodies for FGFR3 (FGF R3)
    Cell Signaling Technology (CST) Antibodies for FGFR3 
    OriGene Antibodies (see all 3): FGFR3
    OriGene Custom Antibody Services for FGFR3 
    GenScript Custom Superior Antibodies Services for FGFR3
    Novus Biologicals FGFR3 Antibodies
    Abcam antibodies for FGFR3 
    Uscn Antibodies for FGFR3
    ThermoFisher Antibody for FGFR3

    Assay Products for FGFR3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    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
    Uscn ELISAs and CLIAs for FGFR3

    Protein Domains /
    Families
    for FGFR3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FGFR3 for domains           About GeneDecksing

    5/13 InterPro domains/families (see all 13):
     IPR003598 Ig_sub2
     IPR017441 Protein_kinase_ATP_BS
     IPR013098 Ig_I-set
     IPR011009 Kinase-like_dom
     IPR016248 Tyr_kinase_fibroblast_GF_rcpt

    Graphical View of Domain Structure for InterPro Entry P22607

    ProtoNet protein and cluster: P22607

    3 Blocks protein families:
    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


    Function
    for FGFR3 gene

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

         UniProtKB/Swiss-Prot: 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
    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

    miRNA
    Products:            		miRTarBase miRNAs that target FGFR3:
    hsa-mir-100 (MIRT003419), hsa-mir-99a (MIRT004243)

    OriGene 3'-UTR Clone (see all 3): FGFR3
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FGFR3
    8/44 QIAGEN miScript miRNA 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 plasmid: FGFR3 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FGFR3 (see all 7)
    OriGene shRNA RFP: FGFR3
    OriGene siRNA: FGFR3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FGFR3

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FGFR3 (see all 11)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FGFR3 (see all 3)
    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
    Products:             		GenScript Custom overexpressing Cell Line Services for FGFR3
    LifeMap BioReagents: cell lines associated with FGFR3: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor,
    PureStem 7SMOO32, NCr-fac & Meso Progenitor

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGFR3

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004713protein tyrosine kinase activity IDA11294897
    GO:0004872receptor activity ----
    GO:0005007fibroblast growth factor-activated receptor activity IMP8663044
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--


    FGFR3 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for FGFR3: Fgfr3tm6.2Cxd Fgfr3tm1Schl Fgfr3tm2Schl Fgfr3tm1Dor Fgfr3tm1Led Fgfr3tm6Cxd
         15/21 MGI mutant phenotypes (inferred from 24 alleles) (MGI details for Fgfr3) (see all 21):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  growth/size 
     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


    Pathways & Interactions
    for FGFR3 gene

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

    Unified GeneCards pathways - 5/40 super-pathways (see all 40) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptotic Pathways in Synovial Fibroblasts
    8/13 pathways (see all 13)
    		Apoptotic Pathways in Synovial Fibroblasts1.00
    		ERK5 Signaling0.61
    		p53 Mediated Apoptosis0.84
    		eIF2 Pathway0.60
    		Mitochondrial Apoptosis0.73
    		Rac1 Pathway0.58
    		Telomerase Components in Cell Signaling0.72
    		Nuclear Receptor Activation by Vitamin-A0.57
    2Signaling by FGFR
    8/12 pathways (see all 12)
    		Signaling by FGFR1.00
    		DAP12 signaling0.83
    		Downstream signaling of activated FGFR0.92
    		Signaling by EGFR in Cancer0.83
    		Signaling by FGFR in disease0.91
    		DAP12 interactions0.76
    		Signaling by ERBB20.89
    		Signaling by PDGF0.72
    3PIP3 activates AKT signaling
    8/10 pathways (see all 10)
    		PIP3 activates AKT signaling1.00
    		PI3K/AKT activation0.97
    		PI3K/AKT Signaling in Cancer1.00
    		GAB1 signalosome0.96
    		PI3K events in ERBB2 signaling1.00
    		Constitutive PI3K/AKT Signaling in Cancer0.88
    		PI3K events in ERBB4 signaling1.00
    		Signaling by SCF-KIT0.72
    4FGFR2c binds to FGF
    8/9 pathways (see all 9)
    		FGFR3c ligand binding and activation0.79
    		SHC-mediated cascade0.45
    		FGFR3 ligand binding and activation0.79
    		FGFR3b ligand binding and activation0.43
    		Signaling by activated point mutants of FGFR30.79
    		FRS2-mediated cascade0.34
    		Signaling by FGFR3 mutants0.79
    		Negative regulation of FGFR signaling0.33
    5IRS-related events
    		IRS-related events1.00
    		Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.90
    		IRS-mediated signalling0.98
    		IGF1R signaling cascade0.90
    		Insulin receptor signalling cascade0.94
    		PI3K Cascade0.84
    		IRS-related events triggered by IGF1R0.93
    		Signaling by Insulin receptor0.74

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for FGFR3
        Development FGF-family signaling

    5/60 Downloadable PowerPoint Slides of QIAGEN 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
    Regulation of Actin Cytoskeleton
    Endochondral Ossification

    5/49        Reactome Pathways for FGFR3 (see all 49)
        FGFR ligand binding and activation
    Signaling by EGFR in Cancer
    Downstream signal transduction
    IRS-mediated signalling
    Signal Transduction

    1 PharmGKB Pathway for FGFR3
        Vemurafenib Pathway, Pharmacodynamics

    5         Kegg Pathways  (Kegg details for FGFR3):
        MAPK signaling pathway
    Endocytosis
    Regulation of actin cytoskeleton
    Pathways in cancer
    Bladder cancer


    FGFR3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FGFR3

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

    5/157 Interacting proteins for FGFR3 (P226071, 2, 3 ENSP000002607954) via UniProtKB, MINT, STRING, and/or I2D (see all 157)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GPSM3Q9Y4H42, 3, ENSP000003641804MINT-62616 MINT-62790 MINT-62714 I2D: score=4 STRING: ENSP00000364180
    FGF1P052301, 3, ENSP000003385484EBI-348399,EBI-698068 I2D: score=4 STRING: ENSP00000338548
    HSP90AB1P082381, 3, ENSP000003258754EBI-348399,EBI-352572 I2D: score=1 STRING: ENSP00000325875
    FGF9P313713, ENSP000003717904I2D: score=2 STRING: ENSP00000371790
    HRASP011123, ENSP000003098454I2D: score=2 STRING: ENSP00000309845
    About this table

    Gene Ontology (GO): 5/55 biological process terms (GO ID links to tree view) (see all 55):    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



    Drugs & Compounds
    for FGFR3 gene

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

    FGFR3 for compounds           About GeneDecksing

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

    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]
    SU 6668 PDGFR, VEGFR and FGFR inhibitor [252916-29-3]
    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--

    1 DrugBank Compound for FGFR3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    PaliferminFGF-7 (see all 5)162394-19-6target--7680555 7890137 11422746 11149756 10821861

    10/24 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about FGFR3 

    Transcripts
    for FGFR3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:             		 OriGene 3'-UTR Clone (see all 3): FGFR3
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FGFR3
    8/44 QIAGEN miScript miRNA 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 plasmid: FGFR3 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FGFR3 (see all 7)
    OriGene shRNA RFP: FGFR3
    OriGene siRNA: FGFR3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FGFR3
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FGFR3 (see all 11)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FGFR3 (see all 3)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for FGFR3
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FGFR3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FGFR3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FGFR3

    Additional cDNA 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 

    24/132 AceView cDNA sequences (see all 132):

    BF059608 BG059722 BG289397 AL043615 BM670295 AW206005 CB851497 X84939 
    AL043614 AI343936 BF057214 BQ021570 BQ446455 CD674871 CA445194 AI659722 
    BE552216 BG403404 AI655715 BM969149 BU683104 BF197382 BF197764 BF762956 

    GeneLoc Exon Structure


    Expression
    for FGFR3 gene

    (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

    FGFR3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGGCCAGAG

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

    FGFR3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/34 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 34) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneAutopod PerichondriumEndochondral PreosteoblastsBone
    BoneAutopod PeriosteumImmature Endochondral OsteoblastsBone
    BoneCaudal Endochondral BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneCervical VertebraeChondrocytesBone, Cartilage
    BoneCervical VertebraePrechondrocytesBone, Cartilage
    BoneEndochondral Facial BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneLumbar VertebraeChondrocytesBone, Cartilage
    BoneLumbar VertebraePrechondrocytesBone, Cartilage
    BoneRostral Endochondral Facial BonesEndochondral OsteocytesBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/15 LifeMap Cells (see all 15) 
    NameCategory
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Sclerotome cells (Primary Cell)Bone, Cartilage, Somite
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    HyStem+BMP4-induced SK11 cells (HyStem+BMP4 inductio...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+BMP4-induced SM30 cells (HyStem+BMP4 inductio...)Adipose, Bone, Cartilage
    HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)Bone
    HyStem+TGF?3+GDF5-induced MEL2 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+BMP4-induced 4D20.8 cells (Chondrogenic inducti...)Bone, Cartilage

    See FGFR3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FGFR3

    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

        SABiosciences Expression via Pathway-Focused 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 genome-wide validated SYBR primer pairs in human, mouse, rat for FGFR3
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FGFR3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FGFR3
    QIAGEN 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
    for FGFR3 gene

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

    Orthologs for FGFR3 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves FGFR31 fibroblast growth factor receptor 3 72.59(n)
    78.05(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 eggshell pattern formation transmembrane
    receptor more    		 52(a)
    (best of 3)    		   43E12   --
    worm
    (Caenorhabditis elegans)    		 Secernentea egl-151 , 3 IG (immunoglobulin) superfamily (3 domains),
    protein more3
    Protein EGL-151    		 39(a)
    (best of 20)3
    44.48(n)1
    42.33(a)1    		   X(11051669-11057121)3
    1812911  NM_001029552.11  NP_001024723.11 


    ENSEMBL Gene Tree for FGFR3 (if available)
    TreeFam Gene Tree for FGFR3 (if available) 

    Paralogs
    for FGFR3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FGFR3 gene
    FLT42  FGFR42  PDGFRB2  CSF1R2  KIT2  PDGFRA2  RET2  KDR2  
    FGFR12  FGFR22  FLT32  FLT12  
    18/82 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    FGFR4
    FGFR-4    FLT1    ABL1    CCDC6-RETa    CCDC6-RETc    RET/PTC2
    KIT    urf-ret    FGFRL1    RET    BTK kinase deficient isoform 6    INSR

    FGFR3 for paralogs           About GeneDecksing


    5/7 Pseudogenes.org Pseudogenes for FGFR3 (see all 7)
    PGOHUM00000242432 PGOHUM00000248856 PGOHUM00000245293 PGOHUM00000247587 PGOHUM00000237874


    Genomic Variants
    for FGFR3 gene

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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FGFR3
         1 CNV: 3476
    Human Gene Mutation Database (HGMD): FGFR3
    5/14 SABiosciences Cancer Mutation PCR Assays for FGFR3 (see all 14):
    Cosmic IdAA Change
    719p.K650E
    24842p.G380R
    726p.K650Q
    716p.G370C
    24802p.G697C
    5/10 SABiosciences Cancer Mutation PCR Arrays 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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FGFR3
    DNA2.0 Custom Variant and Variant Library Synthesis for FGFR3

    Disorders / Diseases
    for FGFR3 gene

    (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
    FGFR3 for disorders           About GeneDecksing

    OMIM gene information: 134934   
    OMIM disorders: 100800  146000  187600  612247  602849  109800  603956  149730  610474  162900  187601  
    UniProtKB/Swiss-Prot: FGFR3_HUMAN, P22607
  • Defects in FGFR3 are the cause of achondroplasia (ACH) [MIM:100800]. ACH is an autosomal dominant disease and
    • is the most 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
  • Defects in FGFR3 are the cause of 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
  • Defects in FGFR3 are a cause of thanatophoric dysplasia type 1 (TD1) [MIM:187600]; also known as thanatophoric
    • dwarfism or platyspondylic lethal skeletal dysplasia Sand Diego type (PLSD-SD). TD1 is the most common neonatal lethal
    skeletal dysplasia. Affected individuals display features similar to those seen in homozygous achondroplasia. It
    causes severe shortening of the limbs with macrocephaly, narrow thorax and short ribs. In the most common subtype,
    TD1, femur are curved
  • Defects in FGFR3 are a cause of thanatophoric dysplasia type 2 (TD2) [MIM:187601]. It is 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
  • Defects in FGFR3 are a cause of hypochondroplasia (HCH) [MIM:146000]. HCH is an autosomal dominant disease and
    • is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype
  • Defects in FGFR3 are a cause of susceptibility to 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. They 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=Somatic
    mutations can constitutively activate FGFR3
  • Defects in FGFR3 are a cause of 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
  • Defects in FGFR3 are the cause of camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome)
    • [MIM:610474]. CATSHL syndrome is an 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
  • Defects in FGFR3 are a cause of multiple myeloma (MM) [MIM:254500]. MM is 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=A chromosomal
    aberration involving FGFR3 is found in multiple myeloma. Translocation t(4;14)(p16.3;q32.3) with the IgH locus
  • Defects in FGFR3 are a cause of lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]; also known as
    • Levy-Hollister syndrome. LADDS is a form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal
    development of two or more ectodermal structures. LADDS is an autosomal dominant syndrome 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
  • Defects in FGFR3 are a cause of keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]; also known as
    • pigmented moles. 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
  • Defects in FGFR3 are a cause of Muenke syndrome (MNKS) [MIM:602849]; also known as Muenke non-syndromic
    • coronal craniosynostosis. MNKS is 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
  • Defects in FGFR3 are a cause of 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
  • Defects in FGFR3 may be a cause of testicular germ cell tumor (TGCT) [MIM:273300]. A common solid malignancy
    • in males. Germ cell tumors of the testis constitute 95% of all testicular neoplasms

    20/134 diseases for FGFR3 (see all 134):    About MalaCards
    achondroplasia    beare-stevenson cutis gyrata syndrome    severe achondroplasia with developmental delay and acanthosis nigricans (saddan)    jackson-weiss syndrome
    leri-weill dyschondrosteosis    nevus, keratinocytic, nonepidermolytic    skeletal dysplasia, san diego type    craniosynostosis
    acanthosis nigricans    dermatosis papulosa nigra    saethre-chotzen syndrome    camptodactyly, tall stature, and hearing loss syndrome
    thanatophoric dysplasia    dwarfism    crouzon syndrome with acanthosis nigricans    wolf-hirschhorn syndrome
    seborrheic keratosis    osteogenesis imperfecta    thanatophoric dysplasia type 2    thanatophoric dysplasia type 1

    10 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     Carcinoma

    10/82 Novoseek 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
    Muenke Syndrome
    FGFR-Related Craniosynostosis
    Hypochondroplasia
    Thanatophoric Dysplasia
    Achondroplasia

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

    Export disorders for FGFR3 gene to outside databases

    Publications
    for FGFR3 gene

    (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 FGFR3 gene, integrated from 9 sources (see all 781):
    (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. (1991)
    2. 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. (2007)
    3. 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. (2001)
    4. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. (PubMed id 16841094)1, 2, 9 Hafner C.... Hartmann A. (2006)
    5. Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. (PubMed id 19088846)1, 2, 9 Krejci P....Wilcox W.R. (2008)
    6. Cell responses to FGFR3 signalling: growth, differentiation and apoptosis. (PubMed id 15748888)1, 2, 9 L'Hote C.G. and Knowles M.A. (2005)
    7. FGFR3 and Tp53 mutations in T1G3 transitional bladder carcinomas: independent distribution and lack of association with prognosis. (PubMed id 16061860)1, 4, 9 Hernandez S....Real F.X. (2005)
    8. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. (PubMed id 8599935)1, 2, 9 Webster M.K. and Donoghue D.J. (1996)
    9. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. (PubMed id 7493034)1, 2, 9 Meyers G.A.... Jabs E.W. (1995)
    10. Identification of a novel variant form of fibroblast growth factor receptor 3 (FGFR3 IIIb) in human colonic epithelium. (PubMed id 7923141)1, 2, 9 Murgue B.... Podolsky D.K. (1994)

    External Searches for FGFR3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing FGFR3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2261 HGNC: 3690 AceView: FGFR3 Ensembl:ENSG00000068078 euGenes: HUgn2261
    ECgene: FGFR3 Kegg: 2261 H-InvDB: FGFR3

    Other Databases showing FGFR3 gene

    (According to HUGE)
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    Specialized Databases showing FGFR3 gene

    (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 FGFR3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FGFR3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGFR3
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fgfr3/

    Intellectual Property
    for FGFR3 gene

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

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