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P22607

- FGFR3_HUMAN

UniProt

P22607 - FGFR3_HUMAN

Protein

Fibroblast growth factor receptor 3

Gene

FGFR3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 191 (01 Oct 2014)
      Sequence version 1 (01 Aug 1991)
      Previous versions | rss
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    Functioni

    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.13 Publications

    Catalytic activityi

    ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.2 PublicationsPROSITE-ProRule annotation

    Enzyme regulationi

    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 SU5402.3 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei508 – 5081ATPPROSITE-ProRule annotation
    Active sitei617 – 6171Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi478 – 4869ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. fibroblast growth factor-activated receptor activity Source: UniProtKB
    3. fibroblast growth factor binding Source: UniProtKB
    4. protein binding Source: IntAct
    5. protein tyrosine kinase activity Source: UniProtKB

    GO - Biological processi

    1. alveolar secondary septum development Source: Ensembl
    2. axonogenesis involved in innervation Source: Ensembl
    3. bone maturation Source: BHF-UCL
    4. bone mineralization Source: BHF-UCL
    5. bone morphogenesis Source: UniProtKB
    6. cell-cell signaling Source: Ensembl
    7. central nervous system myelination Source: Ensembl
    8. chondrocyte differentiation Source: UniProtKB
    9. chondrocyte proliferation Source: UniProtKB
    10. cochlea development Source: Ensembl
    11. digestive tract morphogenesis Source: Ensembl
    12. endochondral bone growth Source: UniProtKB
    13. endochondral ossification Source: UniProtKB
    14. epidermal growth factor receptor signaling pathway Source: Reactome
    15. epithelial cell fate commitment Source: Ensembl
    16. Fc-epsilon receptor signaling pathway Source: Reactome
    17. fibroblast growth factor receptor apoptotic signaling pathway Source: UniProtKB
    18. fibroblast growth factor receptor signaling pathway Source: UniProtKB
    19. innate immune response Source: Reactome
    20. inner ear receptor cell differentiation Source: Ensembl
    21. insulin receptor signaling pathway Source: Reactome
    22. JAK-STAT cascade Source: ProtInc
    23. lens fiber cell development Source: Ensembl
    24. lens morphogenesis in camera-type eye Source: Ensembl
    25. MAPK cascade Source: ProtInc
    26. morphogenesis of an epithelium Source: Ensembl
    27. negative regulation of astrocyte differentiation Source: Ensembl
    28. negative regulation of developmental growth Source: BHF-UCL
    29. negative regulation of epithelial cell proliferation Source: Ensembl
    30. negative regulation of mitosis Source: Ensembl
    31. negative regulation of smoothened signaling pathway Source: Ensembl
    32. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    33. neurotrophin TRK receptor signaling pathway Source: Reactome
    34. peptidyl-tyrosine phosphorylation Source: UniProtKB
    35. phosphatidylinositol-mediated signaling Source: Reactome
    36. positive regulation of canonical Wnt signaling pathway Source: Ensembl
    37. positive regulation of cell differentiation Source: Ensembl
    38. positive regulation of cell proliferation Source: UniProtKB
    39. positive regulation of endothelial cell proliferation Source: Ensembl
    40. positive regulation of ERK1 and ERK2 cascade Source: UniProtKB
    41. positive regulation of MAPK cascade Source: UniProtKB
    42. positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway Source: Ensembl
    43. positive regulation of neuron apoptotic process Source: Ensembl
    44. positive regulation of phosphatidylinositol 3-kinase activity Source: UniProtKB
    45. positive regulation of phospholipase activity Source: UniProtKB
    46. positive regulation of protein ubiquitination Source: Ensembl
    47. positive regulation of tyrosine phosphorylation of Stat1 protein Source: UniProtKB
    48. positive regulation of tyrosine phosphorylation of Stat3 protein Source: UniProtKB
    49. protein autophosphorylation Source: UniProtKB
    50. response to axon injury Source: Ensembl
    51. skeletal system development Source: ProtInc
    52. somatic stem cell maintenance Source: Ensembl
    53. substantia nigra development Source: Ensembl

    Keywords - Molecular functioni

    Kinase, Receptor, Transferase, Tyrosine-protein kinase

    Keywords - Biological processi

    Apoptosis

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDAi2.7.10.1. 2681.
    ReactomeiREACT_111184. Negative regulation of FGFR signaling.
    REACT_121011. t(4;14) translocations of FGFR3.
    REACT_121249. Signaling by FGFR3 mutants.
    REACT_121337. Signaling by activated point mutants of FGFR3.
    REACT_121398. Signaling by FGFR mutants.
    REACT_147727. Constitutive PI3K/AKT Signaling in Cancer.
    REACT_21247. FRS2-mediated cascade.
    REACT_21270. PI-3K cascade.
    REACT_21310. Phospholipase C-mediated cascade.
    REACT_21374. SHC-mediated cascade.
    REACT_75829. PIP3 activates AKT signaling.
    REACT_9508. FGFR3b ligand binding and activation.
    REACT_9510. FGFR3c ligand binding and activation.
    REACT_976. PI3K Cascade.
    SignaLinkiP22607.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fibroblast growth factor receptor 3 (EC:2.7.10.1)
    Short name:
    FGFR-3
    Alternative name(s):
    CD_antigen: CD333
    Gene namesi
    Name:FGFR3
    Synonyms:JTK4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:3690. FGFR3.

    Subcellular locationi

    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.

    GO - Cellular componenti

    1. cell surface Source: Ensembl
    2. cytoplasmic membrane-bounded vesicle Source: UniProtKB-SubCell
    3. cytoplasmic side of plasma membrane Source: Ensembl
    4. endoplasmic reticulum Source: UniProtKB-SubCell
    5. extracellular region Source: UniProtKB-SubCell
    6. integral component of plasma membrane Source: UniProtKB
    7. lysosome Source: Ensembl
    8. nucleus Source: Ensembl
    9. perinuclear region of cytoplasm Source: Ensembl
    10. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Cytoplasmic vesicle, Endoplasmic reticulum, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti375 – 3751G → C in ACH. 1 Publication
    VAR_004154
    Natural varianti380 – 3801G → R in keratinocytic non-epidermolytic nevus and ACH; very common mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling. 3 Publications
    Corresponds to variant rs28931614 [ dbSNP | Ensembl ].
    VAR_004155
    Natural varianti650 – 6501K → M in KERSEB, ACH and TD1; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling. 3 Publications
    VAR_004161
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti391 – 3911A → E in CAN. 2 Publications
    Corresponds to variant rs28931615 [ dbSNP | Ensembl ].
    VAR_004156
    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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti248 – 2481R → C in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma; constitutive dimerization and kinase activation. 7 Publications
    VAR_004148
    Natural varianti249 – 2491S → C in KERSEB, bladder cancer, cervical cancer and TD1. 5 Publications
    VAR_004149
    Natural varianti370 – 3701G → C in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1. 5 Publications
    VAR_004151
    Natural varianti371 – 3711S → C in KERSEB and TD1. 2 Publications
    VAR_004152
    Natural varianti373 – 3731Y → C in KERSEB and TD1; disulfide-linked dimer with constitutive kinase activation. 4 Publications
    VAR_004153
    Natural varianti650 – 6501K → M in KERSEB, ACH and TD1; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling. 3 Publications
    VAR_004161
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti650 – 6501K → E in KERSEB, TD2, TGCT and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling. 6 Publications
    VAR_004160
    Hypochondroplasia (HCH) [MIM:146000]: Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.6 Publications
    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.1 Publication
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti621 – 6211R → H in CATSHL syndrome. 1 Publication
    VAR_029108
    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.2 Publications
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti513 – 5131D → N in LADDS. 1 Publication
    VAR_029887
    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.1 Publication
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti250 – 2501P → R in MNKS; also some individuals with autosomal dominant congenital sensorineural deafness without craniosynostosis. 4 Publications
    Corresponds to variant rs4647924 [ dbSNP | Ensembl ].
    VAR_004150
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti248 – 2481R → C in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma; constitutive dimerization and kinase activation. 7 Publications
    VAR_004148
    Natural varianti249 – 2491S → C in KERSEB, bladder cancer, cervical cancer and TD1. 5 Publications
    VAR_004149
    Natural varianti370 – 3701G → C in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1. 5 Publications
    VAR_004151
    Natural varianti371 – 3711S → C in KERSEB and TD1. 2 Publications
    VAR_004152
    Natural varianti373 – 3731Y → C in KERSEB and TD1; disulfide-linked dimer with constitutive kinase activation. 4 Publications
    VAR_004153
    Natural varianti650 – 6501K → E in KERSEB, TD2, TGCT and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling. 6 Publications
    VAR_004160
    Natural varianti650 – 6501K → M in KERSEB, ACH and TD1; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling. 3 Publications
    VAR_004161
    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.1 Publication
    Note: The gene represented in this entry may be involved in disease pathogenesis.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti650 – 6501K → E in KERSEB, TD2, TGCT and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling. 6 Publications
    VAR_004160

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi508 – 5081K → A: Loss of kinase activity. Abolishes ubiquitination. 2 Publications
    Mutagenesisi577 – 5771Y → F: Minor effect on kinase activity. 1 Publication
    Mutagenesisi650 – 6501K → D: Constitutively activated kinase.
    Mutagenesisi650 – 6501K → L: Constitutively activated kinase.
    Mutagenesisi724 – 7241Y → F: Strongly reduced kinase activity. Strongly reduced mitogen activity. 1 Publication
    Mutagenesisi760 – 7601Y → F: Minor effect on kinase activity. 1 Publication
    Mutagenesisi770 – 7701Y → F: Minor effect on kinase activity. Increased mitogen activity. 1 Publication

    Keywords - Diseasei

    Craniosynostosis, Deafness, Disease mutation, Dwarfism, Ectodermal dysplasia, Lacrimo-auriculo-dento-digital syndrome

    Organism-specific databases

    MIMi100800. phenotype.
    109800. phenotype.
    146000. phenotype.
    149730. phenotype.
    162900. phenotype.
    182000. phenotype.
    187600. phenotype.
    187601. phenotype.
    254500. phenotype.
    273300. phenotype.
    602849. phenotype.
    603956. phenotype.
    610474. phenotype.
    612247. phenotype.
    Orphaneti15. Achondroplasia.
    85164. Camptodactyly - tall stature - scoliosis - hearing loss.
    93262. Crouzon syndrome - acanthosis nigricans.
    1555. Cutis gyrata - acanthosis nigricans - craniosynostosis.
    251579. Giant cell glioblastoma.
    251576. Gliosarcoma.
    429. Hypochondroplasia.
    35099. Isolated brachycephaly.
    2343. Isolated cloverleaf skull syndrome.
    35098. Isolated plagiocephaly.
    2363. Lacrimo-auriculo-dento-digital syndrome.
    53271. Muenke syndrome.
    794. Saethre-Chotzen syndrome.
    85165. Severe achondroplasia - developmental delay - acanthosis nigricans.
    1860. Thanatophoric dysplasia type 1.
    93274. Thanatophoric dysplasia type 2.
    PharmGKBiPA28129.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Add
    BLAST
    Chaini23 – 806784Fibroblast growth factor receptor 3PRO_0000016785Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi61 ↔ 109PROSITE-ProRule annotation
    Glycosylationi98 – 981N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi176 ↔ 228PROSITE-ProRule annotation
    Glycosylationi225 – 2251N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi262 – 2621N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi275 ↔ 339PROSITE-ProRule annotation
    Glycosylationi294 – 2941N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi315 – 3151N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi328 – 3281N-linked (GlcNAc...)Sequence Analysis
    Modified residuei647 – 6471Phosphotyrosine; by autocatalysis1 Publication
    Modified residuei648 – 6481Phosphotyrosine; by autocatalysis1 Publication
    Modified residuei724 – 7241Phosphotyrosine; by autocatalysis1 Publication
    Modified residuei760 – 7601Phosphotyrosine; by autocatalysis1 Publication

    Post-translational modificationi

    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 PLCG1.2 Publications
    Ubiquitinated. Is rapidly ubiquitinated after ligand binding and autophosphorylation, leading to receptor internalization and degradation. Subject to both proteasomal and lysosomal degradation.2 Publications
    N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.4 Publications

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugation

    Proteomic databases

    PaxDbiP22607.
    PRIDEiP22607.

    PTM databases

    PhosphoSiteiP22607.

    Expressioni

    Tissue specificityi

    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.1 Publication

    Gene expression databases

    ArrayExpressiP22607.
    BgeeiP22607.
    CleanExiHS_FGFR3.
    GenevestigatoriP22607.

    Organism-specific databases

    HPAiCAB004231.

    Interactioni

    Subunit structurei

    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.9 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    FGF1P052303EBI-348399,EBI-698068
    HSP90AB1P082382EBI-348399,EBI-352572

    Protein-protein interaction databases

    BioGridi108552. 34 interactions.
    DIPiDIP-4016N.
    IntActiP22607. 25 interactions.
    MINTiMINT-1034697.
    STRINGi9606.ENSP00000260795.

    Structurei

    Secondary structure

    1
    806
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi163 – 1675
    Beta strandi172 – 1754
    Beta strandi185 – 1873
    Turni208 – 2114
    Beta strandi212 – 2154
    Helixi220 – 2223
    Beta strandi226 – 2327
    Beta strandi235 – 24612
    Beta strandi263 – 2686
    Beta strandi271 – 2733
    Beta strandi283 – 2897
    Helixi293 – 2953
    Beta strandi302 – 3043
    Beta strandi324 – 3263
    Beta strandi335 – 34511
    Beta strandi348 – 35710
    Beta strandi369 – 3724
    Helixi374 – 39825
    Turni463 – 4653
    Helixi469 – 4713
    Beta strandi472 – 4809
    Beta strandi482 – 49615
    Beta strandi503 – 5108
    Helixi516 – 53217
    Beta strandi541 – 5455
    Beta strandi547 – 5504
    Beta strandi552 – 5565
    Helixi563 – 5686
    Helixi591 – 61020
    Helixi620 – 6223
    Beta strandi623 – 6253
    Beta strandi631 – 6333
    Beta strandi646 – 6494
    Helixi658 – 6603
    Helixi663 – 6686
    Helixi673 – 68816
    Helixi700 – 7089
    Helixi721 – 73010
    Helixi735 – 7373
    Helixi741 – 75313

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1RY7X-ray3.20B33-365[»]
    2LZLNMR-A/B357-399[»]
    4K33X-ray2.34A449-759[»]
    ProteinModelPortaliP22607.
    SMRiP22607. Positions 45-399, 459-776.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP22607.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini23 – 375353ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini397 – 806410CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei376 – 39621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini24 – 126103Ig-like C2-type 1Add
    BLAST
    Domaini151 – 24494Ig-like C2-type 2Add
    BLAST
    Domaini253 – 355103Ig-like C2-type 3Add
    BLAST
    Domaini472 – 761290Protein kinasePROSITE-ProRule annotationAdd
    BLAST

    Domaini

    The second and third Ig-like domains directly interact with fibroblast growth factors (FGF) and heparan sulfate proteoglycans.1 Publication

    Sequence similaritiesi

    Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.PROSITE-ProRule annotation
    Contains 1 protein kinase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0515.
    HOGENOMiHOG000263410.
    HOVERGENiHBG000345.
    KOiK05094.
    OMAiVFTHDLL.
    PhylomeDBiP22607.
    TreeFamiTF316307.

    Family and domain databases

    Gene3Di2.60.40.10. 3 hits.
    InterProiIPR028176. FGF_rcpt_3.
    IPR016248. FGF_rcpt_fam.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR013151. Immunoglobulin.
    IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
    IPR008266. Tyr_kinase_AS.
    IPR020635. Tyr_kinase_cat_dom.
    [Graphical view]
    PANTHERiPTHR24416:SF128. PTHR24416:SF128. 1 hit.
    PfamiPF07679. I-set. 2 hits.
    PF00047. ig. 1 hit.
    PF07714. Pkinase_Tyr. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000628. FGFR. 1 hit.
    PRINTSiPR00109. TYRKINASE.
    SMARTiSM00409. IG. 1 hit.
    SM00408. IGc2. 2 hits.
    SM00219. TyrKc. 1 hit.
    [Graphical view]
    SUPFAMiSSF56112. SSF56112. 1 hit.
    PROSITEiPS50835. IG_LIKE. 3 hits.
    PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00109. PROTEIN_KINASE_TYR. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P22607-1) [UniParc]FASTAAdd to Basket

    Also known as: IIIc

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV    50
    FGSGDAVELS CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS 100
    HEDSGAYSCR QRLTQRVLCH FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA 150
    PYWTRPERMD KKLLAVPAAN TVRFRCPAAG NPTPSISWLK NGREFRGEHR 200
    IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT YTLDVLERSP 250
    HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP 300
    DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH 350
    SAWLVVLPAE EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS 400
    PPKKGLGSPT VHKISRFPLK RQVSLESNAS MSSNTPLVRI ARLSSGEGPT 450
    LANVSELELP ADPKWELSRA RLTLGKPLGE GCFGQVVMAE AIGIDKDRAA 500
    KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN LLGACTQGGP 550
    LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ 600
    VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK 650
    TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV 700
    EELFKLLKEG HRMDKPANCT HDLYMIMREC WHAAPSQRPT FKQLVEDLDR 750
    VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS SSSGDDSVFA HDLLPPAPPS 800
    SGGSRT 806
    Length:806
    Mass (Da):87,710
    Last modified:August 1, 1991 - v1
    Checksum:iBC5EA75EA46F447E
    GO
    Isoform 2 (identifier: P22607-2) [UniParc]FASTAAdd to Basket

    Also known as: IIIb

    The sequence of this isoform differs from the canonical sequence as follows:
         311-358: TAGANTTDKE...HHSAWLVVLP → SWISESVEAD...FWLSVHGPRA

    Show »
    Length:808
    Mass (Da):88,157
    Checksum:iE08CE2C9FD56D8F9
    GO
    Isoform 3 (identifier: P22607-3) [UniParc]FASTAAdd to Basket

    Also known as: FGFR3deltaTM

    The sequence of this isoform differs from the canonical sequence as follows:
         311-422: Missing.

    Show »
    Length:694
    Mass (Da):75,696
    Checksum:i4493C5990FD68964
    GO
    Isoform 4 (identifier: P22607-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         654-806: GRLPVKWMAP...APPSSGGSRT → LVLWGPALGD...DVKGHWSPTM

    Note: No experimental confirmation available.

    Show »
    Length:791
    Mass (Da):85,083
    Checksum:iEA4EEB033A1433BB
    GO

    Sequence cautioni

    The sequence BAD92678.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti395 – 3951L → V in AAA58470. (PubMed:1664411)Curated
    Sequence conflicti421 – 4211R → RQ in BAD92678. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti65 – 651G → R.1 Publication
    Corresponds to variant rs2305178 [ dbSNP | Ensembl ].
    VAR_022167
    Natural varianti79 – 791T → S in a lung adenocarcinoma sample; somatic mutation. 1 Publication
    VAR_042207
    Natural varianti228 – 2281C → R in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication
    VAR_042208
    Natural varianti248 – 2481R → C in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma; constitutive dimerization and kinase activation. 7 Publications
    VAR_004148
    Natural varianti249 – 2491S → C in KERSEB, bladder cancer, cervical cancer and TD1. 5 Publications
    VAR_004149
    Natural varianti250 – 2501P → R in MNKS; also some individuals with autosomal dominant congenital sensorineural deafness without craniosynostosis. 4 Publications
    Corresponds to variant rs4647924 [ dbSNP | Ensembl ].
    VAR_004150
    Natural varianti322 – 3221E → K in colorectal cancer. 1 Publication
    VAR_018388
    Natural varianti338 – 3381T → M.1 Publication
    VAR_042209
    Natural varianti370 – 3701G → C in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1. 5 Publications
    VAR_004151
    Natural varianti371 – 3711S → C in KERSEB and TD1. 2 Publications
    VAR_004152
    Natural varianti373 – 3731Y → C in KERSEB and TD1; disulfide-linked dimer with constitutive kinase activation. 4 Publications
    VAR_004153
    Natural varianti375 – 3751G → C in ACH. 1 Publication
    VAR_004154
    Natural varianti380 – 3801G → R in keratinocytic non-epidermolytic nevus and ACH; very common mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling. 3 Publications
    Corresponds to variant rs28931614 [ dbSNP | Ensembl ].
    VAR_004155
    Natural varianti384 – 3841F → L.2 Publications
    Corresponds to variant rs17881656 [ dbSNP | Ensembl ].
    VAR_022168
    Natural varianti391 – 3911A → E in CAN. 2 Publications
    Corresponds to variant rs28931615 [ dbSNP | Ensembl ].
    VAR_004156
    Natural varianti441 – 4411A → T.1 Publication
    Corresponds to variant rs17884368 [ dbSNP | Ensembl ].
    VAR_022169
    Natural varianti513 – 5131D → N in LADDS. 1 Publication
    VAR_029887
    Natural varianti538 – 5381I → V in hypochondroplasia. 1 Publication
    VAR_004157
    Natural varianti540 – 5401N → K in hypochondroplasia. 1 Publication
    Corresponds to variant rs28933068 [ dbSNP | Ensembl ].
    VAR_004158
    Natural varianti540 – 5401N → S in hypochondroplasia; mild. 2 Publications
    VAR_018389
    Natural varianti540 – 5401N → T in hypochondroplasia. 1 Publication
    VAR_004159
    Natural varianti621 – 6211R → H in CATSHL syndrome. 1 Publication
    VAR_029108
    Natural varianti646 – 6461D → N.1 Publication
    VAR_042210
    Natural varianti650 – 6501K → E in KERSEB, TD2, TGCT and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling. 6 Publications
    VAR_004160
    Natural varianti650 – 6501K → M in KERSEB, ACH and TD1; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling. 3 Publications
    VAR_004161
    Natural varianti650 – 6501K → Q in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations; constitutively activated kinase. 2 Publications
    VAR_018390
    Natural varianti717 – 7171A → T.1 Publication
    Corresponds to variant rs17882190 [ dbSNP | Ensembl ].
    VAR_022170
    Natural varianti726 – 7261I → F.1 Publication
    Corresponds to variant rs17880763 [ dbSNP | Ensembl ].
    VAR_022171

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei311 – 422112Missing in isoform 3. 1 PublicationVSP_002989Add
    BLAST
    Alternative sequencei311 – 35848TAGAN…LVVLP → SWISESVEADVRLRLANVSE RDGGEYLCRATNFIGVAEKA FWLSVHGPRA in isoform 2. 1 PublicationVSP_002988Add
    BLAST
    Alternative sequencei654 – 806153GRLPV…GGSRT → LVLWGPALGDLHAGGLPVPR HPCGGALQAAEGGPPHGQAR QLHTRPVHDHAGVLACRALP EAHLQAAGGGPGPCPYRDVH RRVPGPVGAFRAVLPGWPGH PQLQLLRGRLRVCPRPAAPG PTQQWGLADVKGHWSPTM in isoform 4. 1 PublicationVSP_040945Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M58051 mRNA. Translation: AAA52450.1.
    AF245114 mRNA. Translation: AAF63380.1.
    AB209441 mRNA. Translation: BAD92678.1. Different initiation.
    AY768549 Genomic DNA. Translation: AAU89726.1.
    AC016773 Genomic DNA. No translation available.
    CH471131 Genomic DNA. Translation: EAW82564.1.
    CH471131 Genomic DNA. Translation: EAW82565.1.
    CH471131 Genomic DNA. Translation: EAW82566.1.
    CH471131 Genomic DNA. Translation: EAW82567.1.
    M64347 mRNA. Translation: AAA58470.1.
    M59374 mRNA. Translation: AAA63209.1.
    S76733 Genomic DNA. Translation: AAB33323.1.
    X84939 mRNA. Translation: CAA59334.1.
    U22410 Genomic DNA. Translation: AAA67781.1.
    CCDSiCCDS3353.1. [P22607-1]
    CCDS3354.1. [P22607-3]
    CCDS54706.1. [P22607-2]
    PIRiA38576. TVHUF3.
    RefSeqiNP_000133.1. NM_000142.4. [P22607-1]
    NP_001156685.1. NM_001163213.1. [P22607-2]
    NP_075254.1. NM_022965.3. [P22607-3]
    UniGeneiHs.1420.

    Genome annotation databases

    EnsembliENST00000260795; ENSP00000260795; ENSG00000068078. [P22607-1]
    ENST00000340107; ENSP00000339824; ENSG00000068078. [P22607-2]
    ENST00000352904; ENSP00000231803; ENSG00000068078. [P22607-3]
    ENST00000412135; ENSP00000412903; ENSG00000068078. [P22607-3]
    ENST00000440486; ENSP00000414914; ENSG00000068078. [P22607-1]
    GeneIDi2261.
    KEGGihsa:2261.
    UCSCiuc003gdr.3. human. [P22607-1]
    uc003gds.3. human. [P22607-3]
    uc003gdu.2. human. [P22607-2]

    Polymorphism databases

    DMDMi120050.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M58051 mRNA. Translation: AAA52450.1 .
    AF245114 mRNA. Translation: AAF63380.1 .
    AB209441 mRNA. Translation: BAD92678.1 . Different initiation.
    AY768549 Genomic DNA. Translation: AAU89726.1 .
    AC016773 Genomic DNA. No translation available.
    CH471131 Genomic DNA. Translation: EAW82564.1 .
    CH471131 Genomic DNA. Translation: EAW82565.1 .
    CH471131 Genomic DNA. Translation: EAW82566.1 .
    CH471131 Genomic DNA. Translation: EAW82567.1 .
    M64347 mRNA. Translation: AAA58470.1 .
    M59374 mRNA. Translation: AAA63209.1 .
    S76733 Genomic DNA. Translation: AAB33323.1 .
    X84939 mRNA. Translation: CAA59334.1 .
    U22410 Genomic DNA. Translation: AAA67781.1 .
    CCDSi CCDS3353.1. [P22607-1 ]
    CCDS3354.1. [P22607-3 ]
    CCDS54706.1. [P22607-2 ]
    PIRi A38576. TVHUF3.
    RefSeqi NP_000133.1. NM_000142.4. [P22607-1 ]
    NP_001156685.1. NM_001163213.1. [P22607-2 ]
    NP_075254.1. NM_022965.3. [P22607-3 ]
    UniGenei Hs.1420.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1RY7 X-ray 3.20 B 33-365 [» ]
    2LZL NMR - A/B 357-399 [» ]
    4K33 X-ray 2.34 A 449-759 [» ]
    ProteinModelPortali P22607.
    SMRi P22607. Positions 45-399, 459-776.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108552. 34 interactions.
    DIPi DIP-4016N.
    IntActi P22607. 25 interactions.
    MINTi MINT-1034697.
    STRINGi 9606.ENSP00000260795.

    Chemistry

    BindingDBi P22607.
    ChEMBLi CHEMBL2742.
    DrugBanki DB00039. Palifermin.
    GuidetoPHARMACOLOGYi 1810.

    PTM databases

    PhosphoSitei P22607.

    Polymorphism databases

    DMDMi 120050.

    Proteomic databases

    PaxDbi P22607.
    PRIDEi P22607.

    Protocols and materials databases

    DNASUi 2261.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000260795 ; ENSP00000260795 ; ENSG00000068078 . [P22607-1 ]
    ENST00000340107 ; ENSP00000339824 ; ENSG00000068078 . [P22607-2 ]
    ENST00000352904 ; ENSP00000231803 ; ENSG00000068078 . [P22607-3 ]
    ENST00000412135 ; ENSP00000412903 ; ENSG00000068078 . [P22607-3 ]
    ENST00000440486 ; ENSP00000414914 ; ENSG00000068078 . [P22607-1 ]
    GeneIDi 2261.
    KEGGi hsa:2261.
    UCSCi uc003gdr.3. human. [P22607-1 ]
    uc003gds.3. human. [P22607-3 ]
    uc003gdu.2. human. [P22607-2 ]

    Organism-specific databases

    CTDi 2261.
    GeneCardsi GC04P001795.
    GeneReviewsi FGFR3.
    HGNCi HGNC:3690. FGFR3.
    HPAi CAB004231.
    MIMi 100800. phenotype.
    109800. phenotype.
    134934. gene.
    146000. phenotype.
    149730. phenotype.
    162900. phenotype.
    182000. phenotype.
    187600. phenotype.
    187601. phenotype.
    254500. phenotype.
    273300. phenotype.
    602849. phenotype.
    603956. phenotype.
    610474. phenotype.
    612247. phenotype.
    neXtProti NX_P22607.
    Orphaneti 15. Achondroplasia.
    85164. Camptodactyly - tall stature - scoliosis - hearing loss.
    93262. Crouzon syndrome - acanthosis nigricans.
    1555. Cutis gyrata - acanthosis nigricans - craniosynostosis.
    251579. Giant cell glioblastoma.
    251576. Gliosarcoma.
    429. Hypochondroplasia.
    35099. Isolated brachycephaly.
    2343. Isolated cloverleaf skull syndrome.
    35098. Isolated plagiocephaly.
    2363. Lacrimo-auriculo-dento-digital syndrome.
    53271. Muenke syndrome.
    794. Saethre-Chotzen syndrome.
    85165. Severe achondroplasia - developmental delay - acanthosis nigricans.
    1860. Thanatophoric dysplasia type 1.
    93274. Thanatophoric dysplasia type 2.
    PharmGKBi PA28129.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0515.
    HOGENOMi HOG000263410.
    HOVERGENi HBG000345.
    KOi K05094.
    OMAi VFTHDLL.
    PhylomeDBi P22607.
    TreeFami TF316307.

    Enzyme and pathway databases

    BRENDAi 2.7.10.1. 2681.
    Reactomei REACT_111184. Negative regulation of FGFR signaling.
    REACT_121011. t(4;14) translocations of FGFR3.
    REACT_121249. Signaling by FGFR3 mutants.
    REACT_121337. Signaling by activated point mutants of FGFR3.
    REACT_121398. Signaling by FGFR mutants.
    REACT_147727. Constitutive PI3K/AKT Signaling in Cancer.
    REACT_21247. FRS2-mediated cascade.
    REACT_21270. PI-3K cascade.
    REACT_21310. Phospholipase C-mediated cascade.
    REACT_21374. SHC-mediated cascade.
    REACT_75829. PIP3 activates AKT signaling.
    REACT_9508. FGFR3b ligand binding and activation.
    REACT_9510. FGFR3c ligand binding and activation.
    REACT_976. PI3K Cascade.
    SignaLinki P22607.

    Miscellaneous databases

    ChiTaRSi FGFR3. human.
    EvolutionaryTracei P22607.
    GeneWikii Fibroblast_growth_factor_receptor_3.
    GenomeRNAii 2261.
    NextBioi 9179.
    PROi P22607.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P22607.
    Bgeei P22607.
    CleanExi HS_FGFR3.
    Genevestigatori P22607.

    Family and domain databases

    Gene3Di 2.60.40.10. 3 hits.
    InterProi IPR028176. FGF_rcpt_3.
    IPR016248. FGF_rcpt_fam.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR013151. Immunoglobulin.
    IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
    IPR008266. Tyr_kinase_AS.
    IPR020635. Tyr_kinase_cat_dom.
    [Graphical view ]
    PANTHERi PTHR24416:SF128. PTHR24416:SF128. 1 hit.
    Pfami PF07679. I-set. 2 hits.
    PF00047. ig. 1 hit.
    PF07714. Pkinase_Tyr. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000628. FGFR. 1 hit.
    PRINTSi PR00109. TYRKINASE.
    SMARTi SM00409. IG. 1 hit.
    SM00408. IGc2. 2 hits.
    SM00219. TyrKc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56112. SSF56112. 1 hit.
    PROSITEi PS50835. IG_LIKE. 3 hits.
    PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00109. PROTEIN_KINASE_TYR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3."
      Keegan K., Johnson D.E., Williams L.T., Hayman M.J.
      Proc. Natl. Acad. Sci. U.S.A. 88:1095-1099(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Fibroblast growth factor receptor 3 lacking the Ig IIIb and transmembrane domains secreted from human squamous cell carcinoma DJM-1 binds to FGFs."
      Terada M., Shimizu A., Sato N., Miyakaze S.I., Katayama H., Kurokawa-Seo M.
      Mol. Cell Biol. Res. Commun. 4:365-373(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, SUBUNIT, FGF1- AND FGF2-BINDING, SUBCELLULAR LOCATION, GLYCOSYLATION, DIMERIZATION.
      Tissue: Squamous cell carcinoma.
    3. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
      Tissue: Brain.
    4. NIEHS SNPs program
      Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-65; LEU-384; THR-441; THR-717 AND PHE-726.
    5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4."
      Thompson L.M., Plummer S., Schalling M., Altherr M.R., Gusella J.F., Housman D.E., Wasmuth J.J.
      Genomics 11:1133-1142(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 76-806 (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Fetal brain.
    8. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 614-681.
    9. "Identification of a novel variant form of fibroblast growth factor receptor 3 (FGFR3 IIIb) in human colonic epithelium."
      Murgue B., Tsunekawa S., Rosenberg I., deBeaumont M., Podolsky D.K.
      Cancer Res. 54:5206-5211(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 311-358 (ISOFORM 2).
      Tissue: Colon tumor.
    10. "The choice between alternative IIIb and IIIc exons of the FGFR-3 gene is not strictly tissue-specific."
      Scotet E., Houssaint E.
      Biochim. Biophys. Acta 1264:238-242(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 311-358 (ISOFORM 2).
      Tissue: Keratinocyte.
    11. Cited for: INTERACTION WITH FGF1; FGF2; FGF4; FGF8 AND FGF9, FUNCTION IN CELL PROLIFERATION.
    12. "The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation."
      Monsonego-Ornan E., Adar R., Feferman T., Segev O., Yayon A.
      Mol. Cell. Biol. 20:516-522(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS FGF9 RECEPTOR IN CHONDROCYTES AND IN ACTIVATION OF SIGNALING PATHWAYS, SUBUNIT, SUBCELLULAR LOCATION, DEGRADATION, AUTOPHOSPHORYLATION, CHARACTERIZATION OF VARIANT ACH ARG-380.
    13. "Identification of tyrosine residues in constitutively activated fibroblast growth factor receptor 3 involved in mitogenesis, Stat activation, and phosphatidylinositol 3-kinase activation."
      Hart K.C., Robertson S.C., Donoghue D.J.
      Mol. Biol. Cell 12:931-942(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN STIMULATION OF CELL PROLIFERATION; PHOSPHORYLATION OF PIK3R1; PTPN11/SHP2; STAT1; STAT3 AND MAP KINASES, PHOSPHORYLATION AT TYR-724, MUTAGENESIS OF TYR-577; TYR-724; TYR-760 AND TYR-770, CHARACTERIZATION OF VARIANT GLU-650.
    14. "FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation."
      Monsonego-Ornan E., Adar R., Rom E., Yayon A.
      FEBS Lett. 528:83-89(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION, PHOSPHORYLATION, CATALYTIC ACTIVITY, MUTAGENESIS OF LYS-508, CHARACTERIZATION OF VARIANT ACH ARG-380, CHARACTERIZATION OF VARIANT TD2 GLU-650.
    15. "The phosphotyrosine phosphatase SHP2 is a critical mediator of transformation induced by the oncogenic fibroblast growth factor receptor 3."
      Agazie Y.M., Movilla N., Ischenko I., Hayman M.J.
      Oncogene 22:6909-6918(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS PROTO-ONCOGENE IN ACTIVATION OF SIGNALING AND CELL PROLIFERATION, FUNCTION IN PHOSPHORYLATION OF FRS2, CHARACTERIZATION OF VARIANT GLU-650, AUTOPHOSPHORYLATION.
    16. "Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family."
      Zhang X., Ibrahimi O.A., Olsen S.K., Umemori H., Mohammadi M., Ornitz D.M.
      J. Biol. Chem. 281:15694-15700(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FGF1; FGF8; FGF9; FGF17; FGF18; FGF19 AND FGF20, FUNCTION IN STIMULATION OF CELL PROLIFERATION.
    17. "Suppressors of cytokine signaling (SOCS) 1 and SOCS3 interact with and modulate fibroblast growth factor receptor signaling."
      Ben-Zvi T., Yayon A., Gertler A., Monsonego-Ornan E.
      J. Cell Sci. 119:380-387(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SOCS1 AND SOCS3, FUNCTION IN ACTIVATION OF STAT1 AND MAP KINASES, GLYCOSYLATION, PHOSPHORYLATION, MUTAGENESIS OF LYS-508, SUBCELLULAR LOCATION.
    18. "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."
      Harada D., Yamanaka Y., Ueda K., Nishimura R., Morishima T., Seino Y., Tanaka H.
      Bone 41:273-281(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN REGULATION OF CHONDROCYTE PROLIFERATION AND IN ACTIVATION OF PLCG1 AND STAT1, INTERACTION WITH FHF1 AND HEPARIN, SUBCELLULAR LOCATION, PHOSPHORYLATION, CHARACTERIZATION OF VARIANTS ARG-380; GLU-650 AND MET-650.
    19. "The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor."
      Bonaventure J., Horne W.C., Baron R.
      FEBS J. 274:3078-3093(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN PHOSPHORYLATION OF CBL, UBIQUITINATION, GLYCOSYLATION, SUBCELLULAR LOCATION, ENZYME REGULATION, CHARACTERIZATION OF VARIANTS CYS-248; CYS-373 AND MET-650.
    20. "Bisindolylmaleimide I suppresses fibroblast growth factor-mediated activation of Erk MAP kinase in chondrocytes by preventing Shp2 association with the Frs2 and Gab1 adaptor proteins."
      Krejci P., Masri B., Salazar L., Farrington-Rock C., Prats H., Thompson L.M., Wilcox W.R.
      J. Biol. Chem. 282:2929-2936(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN PHOSPHORYLATION OF FRS2, CHARACTERIZATION OF VARIANT GLU-650, ENZYME REGULATION, CATALYTIC ACTIVITY.
    21. "Tissue-specific expression of betaKlotho and fibroblast growth factor (FGF) receptor isoforms determines metabolic activity of FGF19 and FGF21."
      Kurosu H., Choi M., Ogawa Y., Dickson A.S., Goetz R., Eliseenkova A.V., Mohammadi M., Rosenblatt K.P., Kliewer S.A., Kuro-o M.
      J. Biol. Chem. 282:26687-26695(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FGF19; FGF21 AND KLB.
    22. "Fibroblast growth factor receptor-induced phosphorylation of STAT1 at the Golgi apparatus without translocation to the nucleus."
      Citores L., Bai L., Sorensen V., Olsnes S.
      J. Cell. Physiol. 212:148-156(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN STAT1 PHOSPHORYLATION, GLYCOSYLATION, PHOSPHORYLATION.
    23. "Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage."
      Krejci P., Salazar L., Kashiwada T.A., Chlebova K., Salasova A., Thompson L.M., Bryja V., Kozubik A., Wilcox W.R.
      PLoS ONE 3:E3961-E3961(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN ACTIVATION OF STAT1; STAT5; MAPK1/ERK2; MAPK3/ERK1 AND THE MAP KINASE SIGNALING PATHWAY.
    24. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    25. "A novel interaction between fibroblast growth factor receptor 3 and the p85 subunit of phosphoinositide 3-kinase: activation-dependent regulation of ERK by p85 in multiple myeloma cells."
      Salazar L., Kashiwada T., Krejci P., Muchowski P., Donoghue D., Wilcox W.R., Thompson L.M.
      Hum. Mol. Genet. 18:1951-1961(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH PIK3R1 AND PLCG1, PHOSPHORYLATION AT TYR-760.
    26. "Cellular signaling by fibroblast growth factor receptors."
      Eswarakumar V.P., Lax I., Schlessinger J.
      Cytokine Growth Factor Rev. 16:139-149(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON FUNCTION; ALTERNATIVE SPLICING; SIGNALING AND ROLE IN DISEASE.
    27. "Cell responses to FGFR3 signalling: growth, differentiation and apoptosis."
      L'Hote C.G., Knowles M.A.
      Exp. Cell Res. 304:417-431(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON FUNCTION; LIGANDS; SIGNALING; ALTERNATIVE SPLICING; DOMAIN; ROLE IN DISEASE; UBIQUITINATION AND DEGRADATION.
    28. Cited for: REVIEW ON ROLE IN SKELETON DEVELOPMENT AND DISEASE.
    29. "Fibroblast growth factor signalling: from development to cancer."
      Turner N., Grose R.
      Nat. Rev. Cancer 10:116-129(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON FUNCTION IN FGF SIGNALING.
    30. "Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity."
      Olsen S.K., Ibrahimi O.A., Raucci A., Zhang F., Eliseenkova A.V., Yayon A., Basilico C., Linhardt R.J., Schlessinger J., Mohammadi M.
      Proc. Natl. Acad. Sci. U.S.A. 101:935-940(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.2 ANGSTROMS) OF 32-365 IN COMPLEX WITH FGF1, ENZYME REGULATION, DOMAIN.
    31. "Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia."
      Rousseau F., Bonaventure J., Legeai-Mallet L., Pelet A., Rozet J.-M., Maroteaux P., le Merrer M., Munnich A.
      Nature 371:252-254(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ACH ARG-380.
    32. "Achondroplasia is defined by recurrent G380R mutations of FGFR3."
      Bellus G.A., Hefferon T.W., de Luna R.I., Hecht J.T., Horton W.A., Machado M., Kaitila I., McIntosh I., Francomano C.A.
      Am. J. Hum. Genet. 56:368-373(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ACH ARG-380.
    33. "A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia."
      Superti-Furga A., Eich G., Bucher H.U., Wisser J., Giedion A., Gitzelmann R., Steinmann B.
      Eur. J. Pediatr. 154:215-219(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ACH CYS-375.
    34. "Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I."
      Tavormina P.L., Rimoin D.L., Cohn D.H., Zhu Y.-Z., Shiang R., Wasmuth J.J.
      Hum. Mol. Genet. 4:2175-2177(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TD1 CYS-249.
    35. "Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3."
      Tavormina P.L., Shiang R., Thompson L.M., Zhu Y.-Z., Wilkin D.J., Lachman R.S., Wilcox W.R., Rimoin D.L., Cohn D.H., Wasmuth J.J.
      Nat. Genet. 9:321-328(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TD1 CYS-248 AND CYS-371, VARIANT TD2 GLU-650.
    36. "A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia."
      Bellus G.A., McIntosh I., Smith E.A., Aylsworth A.S., Kaitila I., Horton W.A., Greenhaw G.A., Hecht J.T., Francomano C.A.
      Nat. Genet. 10:357-359(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPOCHONDROPLASIA LYS-540.
    37. "Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans."
      Meyers G.A., Orlow S.J., Munro I.R., Przylepa K.A., Jabs E.W.
      Nat. Genet. 11:462-464(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CAN GLU-391.
    38. "Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia."
      Webster M.K., Donoghue D.J.
      EMBO J. 15:520-527(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT ACH ARG-380.
    39. "Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)."
      Rousseau F., el Ghouzzi V., Delezoide A.-L., Legeai-Mallet L., le Merrer M., Munnich A., Bonaventure J.
      Hum. Mol. Genet. 5:509-512(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TD1 CYS-248; CYS-249; CYS-370 AND CYS-373.
    40. "Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II."
      Webster M.K., D'Avis P.Y., Robertson S.C., Donoghue D.J.
      Mol. Cell. Biol. 16:4081-4087(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT TD2 GLU-650, CHARACTERIZATION OF VARIANT GLN-650, PHOSPHORYLATION AT TYR-647 AND TYR-648.
    41. Cited for: VARIANT MNKS ARG-250.
    42. "Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3."
      Chesi M., Nardini E., Brents L.A., Schroeck E., Ried T., Kuehl W.M., Bergsagel P.L.
      Nat. Genet. 16:260-264(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MULTIPLE MYELOMA, VARIANTS CYS-373; GLU-650 AND MET-650.
    43. "G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia."
      Katsumata N., Kuno T., Miyazaki S., Mikami S., Nagashima-Miyokawa A., Nimura A., Horikawa R., Tanaka T.
      Endocr. J. 45:S171-S174(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TD1 CYS-370.
    44. "A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia."
      Grigelioniene G., Hagenaes L., Ekloef O., Neumeyer L., Haereid P.E., Anvret M.
      Hum. Mutat. 11:333-333(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPOCHONDROPLASIA VAL-538.
    45. "Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia."
      Deutz-Terlouw P.P., Losekoot M., Aalfs C.M., Hennekam R.C.M., Bakker E.
      Hum. Mutat. Suppl. 1:S62-S65(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPOCHONDROPLASIA THR-540.
    46. "Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia type I."
      Kitoh H., Brodie S.G., Kupke K.G., Lachman R.S., Wilcox W.R.
      Hum. Mutat. 12:362-363(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TD1 MET-650.
    47. Cited for: VARIANT ARG-250.
    48. "Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations."
      Brodie S.G., Kitoh H., Lachman R.S., Nolasco L.M., Mekikian P.B., Wilcox W.R.
      Am. J. Med. Genet. 84:476-480(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TD1 CYS-248; CYS-249 AND CYS-373.
    49. "Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation."
      Lajeunie E., El Ghouzzi V., Le Merrer M., Munnich A., Bonaventure J., Renier D.
      J. Med. Genet. 36:9-13(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MNKS ARG-250.
    50. Cited for: VARIANTS BLADDER AND CERVIX CANCERS CYS-248; CYS-249; CYS-370 AND GLU-650.
    51. "Distinct missense mutations of the FGFR3 Lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype."
      Bellus G.A., Spector E.B., Speiser P.W., Weaver C.A., Garber A.T., Bryke C.R., Israel J., Rosengren S.S., Webster M.K., Donoghue D.J., Francomano C.A.
      Am. J. Hum. Genet. 67:1411-1421(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPOCHONDROPLASIA GLN-650.
    52. "Clinical and radiographic features of a family with hypochondroplasia owing to a novel asn540ser mutation in the fibroblast growth factor receptor 3 gene."
      Mortier G., Nuytinck L., Craen M., Renard J.-P., Leroy J.G., De Paepe A.
      J. Med. Genet. 37:220-224(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPOCHONDROPLASIA SER-540.
    53. "Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene."
      Lowry R.B., Jabs E.W., Graham G.E., Gerritsen J., Fleming J.
      Am. J. Med. Genet. 104:112-119(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MNKS ARG-250.
    54. "Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14)."
      Intini D., Baldini L., Fabris S., Lombardi L., Ciceri G., Maiolo A.T., Neri A.
      Br. J. Haematol. 114:362-364(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MULTIPLE MYELOMA, VARIANT CYS-248.
    55. "Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers."
      Jang J.-H., Shin K.-H., Park J.-G.
      Cancer Res. 61:3541-3543(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT COLORECTAL CANCER LYS-322.
    56. "Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma."
      Sibley K., Cuthbert-Heavens D., Knowles M.A.
      Oncogene 20:686-691(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BLADDER CANCER GLN-650.
    57. "Hypochondroplasia and stature within normal limits: another family with an Asn540-to-Ser mutation in the fibroblast growth factor receptor 3 gene."
      Thauvin-Robinet C., Faivre L., Lewin P., De Monleon J.-V., Francois C., Huet F., Couailler J.-F., Campos-Xavier A.B., Bonaventure J., Le Merrer M.
      Am. J. Med. Genet. A 119:81-84(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPOCHONDROPLASIA SER-540.
    58. "Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans."
      Logie A., Dunois-Larde C., Rosty C., Levrel O., Blanche M., Ribeiro A., Gasc J.-M., Jorcano J., Werner S., Sastre-Garau X., Thiery J.P., Radvanyi F.
      Hum. Mol. Genet. 14:1153-1160(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS KERSEB CYS-248; CYS-249; CYS-370; CYS-371; CYS-373; GLU-650 AND MET-650.
    59. "A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome."
      Toydemir R.M., Brassington A.E., Bayrak-Toydemir P., Krakowiak P.A., Jorde L.B., Whitby F.G., Longo N., Viskochil D.H., Carey J.C., Bamshad M.J.
      Am. J. Hum. Genet. 79:935-941(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CATSHL SYNDROME HIS-621.
    60. Cited for: VARIANTS KNEN CYS-248; CYS-370 AND ARG-380.
    61. Cited for: VARIANT LADDS ASN-513.
    62. "Crouzon with acanthosis nigricans. Further delineation of the syndrome."
      Arnaud-Lopez L., Fragoso R., Mantilla-Capacho J., Barros-Nunez P.
      Clin. Genet. 72:405-410(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CAN GLU-391.
    63. "Patterns of somatic mutation in human cancer genomes."
      Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
      , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
      Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-79; ARG-228; MET-338; LEU-384; ASN-646 AND GLU-650.
    64. "Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors."
      Goriely A., Hansen R.M., Taylor I.B., Olesen I.A., Jacobsen G.K., McGowan S.J., Pfeifer S.P., McVean G.A., Rajpert-De Meyts E., Wilkie A.O.
      Nat. Genet. 41:1247-1252(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TGCT GLU-650.

    Entry informationi

    Entry nameiFGFR3_HUMAN
    AccessioniPrimary (citable) accession number: P22607
    Secondary accession number(s): D3DVP9
    , D3DVQ0, Q14308, Q16294, Q16608, Q59FL9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 1, 1991
    Last sequence update: August 1, 1991
    Last modified: October 1, 2014
    This is version 191 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

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      CD nomenclature of surface proteins of human leucocytes and list of entries
    2. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    8. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3