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    FGFR3 fibroblast growth factor receptor 3 [ Homo sapiens (human) ]

    Gene ID: 2261, updated on 2-Aug-2015
    Official Symbol
    FGFR3provided by HGNC
    Official Full Name
    fibroblast growth factor receptor 3provided by HGNC
    Primary source
    HGNC:HGNC:3690
    See related
    Ensembl:ENSG00000068078; HPRD:00624; MIM:134934; Vega:OTTHUMG00000121148
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACH; CEK2; JTK4; CD333; HSFGFR3EX
    Summary
    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]
    Orthologs
    See FGFR3 in Epigenomics, MapViewer
    Location:
    4p16.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (1793299..1808872)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1795039..1810599)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 129, E3 ubiquitin protein ligase Neighboring gene transforming, acidic coiled-coil containing protein 3 Neighboring gene leucine zipper-EF-hand containing transmembrane protein 1 Neighboring gene Wolf-Hirschhorn syndrome candidate 1 Neighboring gene small Cajal body-specific RNA 22

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Achondroplasia
    MedGen: C0001080 OMIM: 100800 GeneReviews: Achondroplasia
    Compare labs
    ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
    MedGen: CN231689 OMIM: 616482 GeneReviews: Not available
    not available
    Camptodactyly, tall stature, and hearing loss syndrome
    MedGen: C1864852 OMIM: 610474 GeneReviews: Not available
    Compare labs
    Carcinoma of cervix
    MedGen: C0302592 OMIM: 603956 GeneReviews: Not available
    Compare labs
    Crouzon syndrome with acanthosis nigricans Compare labs
    Epidermal nevus
    MedGen: C0334082 OMIM: 162900 GeneReviews: Not available
    Compare labs
    Hypochondroplasia
    MedGen: C0410529 OMIM: 146000 GeneReviews: Hypochondroplasia
    Compare labs
    Isolated coronal synostosis Compare labs
    Levy-Hollister syndrome
    MedGen: C0265269 OMIM: 149730 GeneReviews: Not available
    Compare labs
    Malignant tumor of testis
    MedGen: C0153594 OMIM: 273300 GeneReviews: Not available
    Compare labs
    Malignant tumor of urinary bladder
    MedGen: C0005684 OMIM: 109800 GeneReviews: Not available
    Compare labs
    Muenke syndrome Compare labs
    Thanatophoric dysplasia type 1
    MedGen: C1868678 OMIM: 187600 GeneReviews: Thanatophoric Dysplasia
    Compare labs
    Thanatophoric dysplasia, type 2
    MedGen: C1300257 OMIM: 187601 GeneReviews: Thanatophoric Dysplasia
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2011-11-09)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2011-11-09)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
    NHGRI GWA Catalog
    A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    NHGRI GWA Catalog
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    • SHC1 events in ERBB4 signaling, organism-specific biosystem (from REACTOME)
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    • SOS-mediated signalling, organism-specific biosystem (from REACTOME)
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    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
      Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
    • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
    • Signaling by FGFR, organism-specific biosystem (from REACTOME)
      Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR in disease, organism-specific biosystem (from REACTOME)
      Signaling by FGFR in disease, organism-specific biosystemA number of skeletal and developmental diseases have been shown to arise as a result of mutations in the FGFR1, 2 and 3 genes. These include dwarfism syndromes (achondroplasia, hypochondroplasia and...
    • Signaling by FGFR1, organism-specific biosystem (from REACTOME)
      Signaling by FGFR1, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR2, organism-specific biosystem (from REACTOME)
      Signaling by FGFR2, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR3, organism-specific biosystem (from REACTOME)
      Signaling by FGFR3, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR3 in disease, organism-specific biosystem (from REACTOME)
      Signaling by FGFR3 in disease, organism-specific biosystemThe FGFR3 gene has been shown to be subject to activating mutations and gene amplification leading to a variety of proliferative and developmental disorders depending on whether these events occur in...
    • Signaling by FGFR4, organism-specific biosystem (from REACTOME)
      Signaling by FGFR4, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
      Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Signaling by Leptin, organism-specific biosystem (from REACTOME)
      Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
      Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
    • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
      Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
    • Signaling by VEGF, organism-specific biosystem (from REACTOME)
      Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
    • Signaling by activated point mutants of FGFR3, organism-specific biosystem (from REACTOME)
      Signaling by activated point mutants of FGFR3, organism-specific biosystemActivating point mutations in FGFR3 are found in the extracellular ligand-binding domain, the transmembrane region and the tyrosine kinase domain and are believed to result in ligand-independent acti...
    • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
      Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
    • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • Signalling to ERKs, organism-specific biosystem (from REACTOME)
      Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...
    • Signalling to RAS, organism-specific biosystem (from REACTOME)
      Signalling to RAS, organism-specific biosystemSignalling through Shc adaptor proteins appears to be identical for both NGF and EGF. It leads to a fast, but transient, MAPK/ERK activation, which is insufficient to explain the prolonged activation...
    • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
      Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
    • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
      VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
    • VEGFR2 mediated cell proliferation, organism-specific biosystem (from REACTOME)
      VEGFR2 mediated cell proliferation, organism-specific biosystemVEGFR2 stimulates ERK not via GRB2-SOS-RAS, but via pY1175-dependent phosphorylation of PLC gamma and subsequent activation of PKCs. PKC plays an important mediatory role in the proliferative Ras/Raf...
    • t(4;14) translocations of FGFR3, organism-specific biosystem (from REACTOME)
      t(4;14) translocations of FGFR3, organism-specific biosystemTranslocations which put the FGFR3 gene under the control of the strong IGH promoter have been identified in 15% of multiple myelomas (Avet-Loiseau, 1998; Chesi, 1997; Chesi, 2001). This translocati...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    fibroblast growth factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibroblast growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    fibroblast growth factor-activated receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    Fc-epsilon receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    JAK-STAT cascade TAS
    Traceable Author Statement
    more info
    PubMed 
    MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    alveolar secondary septum development IEA
    Inferred from Electronic Annotation
    more info
     
    axonogenesis involved in innervation IEA
    Inferred from Electronic Annotation
    more info
     
    bone maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    bone morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    bone morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    central nervous system myelination IEA
    Inferred from Electronic Annotation
    more info
     
    chondrocyte differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    chondrocyte proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endochondral bone growth TAS
    Traceable Author Statement
    more info
    PubMed 
    endochondral ossification TAS
    Traceable Author Statement
    more info
    PubMed 
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    epithelial cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    fibroblast growth factor receptor apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fibroblast growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibroblast growth factor receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    fibroblast growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    forebrain development IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response TAS
    Traceable Author Statement
    more info
     
    inner ear receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    lens fiber cell development IEA
    Inferred from Electronic Annotation
    more info
     
    lens morphogenesis in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    morphogenesis of an epithelium IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of developmental growth ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of mitotic nuclear division IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    neurotrophin TRK receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-mediated signaling TAS
    Traceable Author Statement
    more info
     
    positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of phosphatidylinositol 3-kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of phosphatidylinositol 3-kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of phospholipase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of tyrosine phosphorylation of Stat1 protein IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of Stat3 protein IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to axon injury IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    somatic stem cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    substantia nigra development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with focal adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    transport vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    fibroblast growth factor receptor 3
    Names
    FGFR-3
    fibroblast growth factor receptor 3 variant 4
    hydroxyaryl-protein kinase
    tyrosine kinase JTK4
    NP_000133.1
    NP_001156685.1
    NP_075254.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012632.1 RefSeqGene

      Range
      5001..20561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000142.4NP_000133.1  fibroblast growth factor receptor 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000133.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the predominant transcript. The resulting protein (isoform 1) has the IIIc-type C-terminal half of the IgIII domain.
      Source sequence(s)
      AC016773, AW204106, BC121175, DR003490, M64347
      Consensus CDS
      CCDS3353.1
      UniProtKB/Swiss-Prot
      P22607
      UniProtKB/TrEMBL
      Q0IJ44
      Related
      ENSP00000414914, ENST00000440486
      Conserved Domains (7) summary
      cd00096
      Location:57110
      Ig; Immunoglobulin domain
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:170235
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:260356
      IG_like; Immunoglobulin like
      pfam07714
      Location:472748
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:459792
      PKc_like; Protein Kinases, catalytic domain
    2. NM_001163213.1NP_001156685.1  fibroblast growth factor receptor 3 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001156685.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as isoform IIIb, contains alternatively spliced exon 8 but lacks exon 9, compared to variant 1. The resulting protein (isoform 3) has the IIIb-type C-terminal half of the IgIII domain and is longer when it is compared to isoform 1.
      Source sequence(s)
      AB209441, AC016773, AW204106, BC121175
      Consensus CDS
      CCDS54706.1
      UniProtKB/Swiss-Prot
      P22607
      UniProtKB/TrEMBL
      Q0IJ44
      Related
      ENSP00000339824, ENST00000340107
      Conserved Domains (7) summary
      cd00096
      Location:57110
      Ig; Immunoglobulin domain
      cd04974
      Location:268356
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00408
      Location:170235
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:260355
      IG_like; Immunoglobulin like
      pfam07714
      Location:474750
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:461794
      PKc_like; Protein Kinases, catalytic domain
    3. NM_022965.3NP_075254.1  fibroblast growth factor receptor 3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_075254.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks exons 8, 9 and 10, compared to variant 1. The resulting protein (isoform 2) is missing the C-terminal half of the IgIII domain and the transmembrane region, compared to isoform 1. The missing transmembrane region suggests that isoform 2 is a soluble receptor.
      Source sequence(s)
      AC016773, AF245114, AW204106, BC121175, DR003490
      Consensus CDS
      CCDS3354.1
      UniProtKB/Swiss-Prot
      P22607
      UniProtKB/TrEMBL
      Q0IJ44
      Related
      ENSP00000412903, ENST00000412135
      Conserved Domains (7) summary
      cd00096
      Location:57110
      Ig; Immunoglobulin domain
      cd04974
      Location:268357
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00408
      Location:170235
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:260289
      IG; Immunoglobulin
      pfam07714
      Location:360636
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:347680
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

      Range
      1793299..1808872
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713868.1XP_006713931.1  

      Conserved Domains (7) summary
      cd00096
      Location:57110
      Ig; Immunoglobulin domain
      cd04974
      Location:268356
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00408
      Location:170235
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:260355
      IG_like; Immunoglobulin like
      pfam07714
      Location:476752
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:463797
      PKc_like; Protein Kinases, catalytic domain
    2. XM_006713869.1XP_006713932.1  

      Conserved Domains (7) summary
      cd00096
      Location:57110
      Ig; Immunoglobulin domain
      cd04974
      Location:268356
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00408
      Location:170235
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:260355
      IG_like; Immunoglobulin like
      pfam07714
      Location:476752
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:463796
      PKc_like; Protein Kinases, catalytic domain
    3. XM_006713870.1XP_006713933.1  

      Conserved Domains (7) summary
      cd00096
      Location:57110
      Ig; Immunoglobulin domain
      cd04974
      Location:268356
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00408
      Location:170235
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:260355
      IG_like; Immunoglobulin like
      pfam07714
      Location:475751
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:462796
      PKc_like; Protein Kinases, catalytic domain
    4. XM_006713871.1XP_006713934.1  

      Conserved Domains (7) summary
      cd00096
      Location:57110
      Ig; Immunoglobulin domain
      cd04974
      Location:268356
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00408
      Location:170235
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:260355
      IG_like; Immunoglobulin like
      pfam07714
      Location:474750
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:461795
      PKc_like; Protein Kinases, catalytic domain
    5. XM_011513420.1XP_011511722.1  

      Conserved Domains (7) summary
      cd00096
      Location:57110
      Ig; Immunoglobulin domain
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:170235
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:260356
      IG_like; Immunoglobulin like
      pfam07714
      Location:474750
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:461795
      PKc_like; Protein Kinases, catalytic domain
    6. XM_011513422.1XP_011511724.1  

      Conserved Domains (7) summary
      cd00096
      Location:57110
      Ig; Immunoglobulin domain
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:170235
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:260356
      IG_like; Immunoglobulin like
      pfam07714
      Location:473749
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:460794
      PKc_like; Protein Kinases, catalytic domain
    7. XM_006713872.1XP_006713935.1  

      See identical proteins and their annotated locations for XP_006713935.1

      UniProtKB/TrEMBL
      X5D2G8
      Related
      ENSP00000420533, OTTHUMP00000217007, ENST00000481110, OTTHUMT00000358204
      Conserved Domains (7) summary
      cd00096
      Location:57110
      Ig; Immunoglobulin domain
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:170235
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:260356
      IG_like; Immunoglobulin like
      pfam07714
      Location:473749
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:460793
      PKc_like; Protein Kinases, catalytic domain
    8. XM_006713873.1XP_006713936.1  

      Conserved Domains (7) summary
      cd00096
      Location:57110
      Ig; Immunoglobulin domain
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:170235
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:260356
      IG_like; Immunoglobulin like
      pfam07714
      Location:472748
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:459793
      PKc_like; Protein Kinases, catalytic domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      1792977..1808551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)