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P22607

- FGFR3_HUMAN

UniProt

P22607 - FGFR3_HUMAN

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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

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 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
Complete GO annotation...

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 side of plasma membrane Source: Ensembl
  3. cytoplasmic vesicle Source: UniProtKB-KW
  4. endoplasmic reticulum Source: UniProtKB-KW
  5. extracellular region Source: UniProtKB-KW
  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
Complete GO annotation...

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. Lacrimoauriculodentodigital 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

BgeeiP22607.
CleanExiHS_FGFR3.
ExpressionAtlasiP22607. baseline and differential.
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. 36 interactions.
DIPiDIP-4016N.
IntActiP22607. 27 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 45-76, 150-399, 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.
GeneTreeiENSGT00760000118923.
HOGENOMiHOG000263410.
HOVERGENiHBG000345.
InParanoidiP22607.
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

        10         20         30         40         50
MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV
60 70 80 90 100
FGSGDAVELS CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS
110 120 130 140 150
HEDSGAYSCR QRLTQRVLCH FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA
160 170 180 190 200
PYWTRPERMD KKLLAVPAAN TVRFRCPAAG NPTPSISWLK NGREFRGEHR
210 220 230 240 250
IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT YTLDVLERSP
260 270 280 290 300
HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
310 320 330 340 350
DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH
360 370 380 390 400
SAWLVVLPAE EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS
410 420 430 440 450
PPKKGLGSPT VHKISRFPLK RQVSLESNAS MSSNTPLVRI ARLSSGEGPT
460 470 480 490 500
LANVSELELP ADPKWELSRA RLTLGKPLGE GCFGQVVMAE AIGIDKDRAA
510 520 530 540 550
KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN LLGACTQGGP
560 570 580 590 600
LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
610 620 630 640 650
VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK
660 670 680 690 700
TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV
710 720 730 740 750
EELFKLLKEG HRMDKPANCT HDLYMIMREC WHAAPSQRPT FKQLVEDLDR
760 770 780 790 800
VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS SSSGDDSVFA HDLLPPAPPS

SGGSRT
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 45-76, 150-399, 459-776.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108552. 36 interactions.
DIPi DIP-4016N.
IntActi P22607. 27 interactions.
MINTi MINT-1034697.
STRINGi 9606.ENSP00000260795.

Chemistry

BindingDBi P22607.
ChEMBLi CHEMBL2742.
DrugBanki DB00039. Palifermin.
DB06589. Pazopanib.
DB08901. Ponatinib.
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. Lacrimoauriculodentodigital 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.
GeneTreei ENSGT00760000118923.
HOGENOMi HOG000263410.
HOVERGENi HBG000345.
InParanoidi P22607.
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

Bgeei P22607.
CleanExi HS_FGFR3.
ExpressionAtlasi P22607. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 192 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

  1. Human cell differentiation molecules
    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