FGFR3 (Fibroblast Growth Factor Receptor 3)
1998-02-01 Jacky Bonaventure AffiliationUnité INSERM 393, Hopital Necker-Enfants Malades, 149 rue de Sèvres 75743, Paris Cedex 15, France
Identity
HGNC
LOCATION
4p16.3
LOCUSID
ALIAS
ACH,CD333,CEK2,HSFGFR3EX,JTK4
FUSION GENES
DNA/RNA
c-FGFR3 (4p16.3) in normal cells: PAC 1054L13 (above) and PAC 1174P18 (below) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Description
16.5 Kb; 19 exons; exon 1 unknown in human
Transcription
4.0 Kb mRNA; large 3 untranslated region (1.4 kb);
alternative splicing of exons 7 and 8 gives rise to two isoforms IIIb and
IIIc
Proteins
Protein Diagram
Description
806 amino acids; 115 kDa; tyrosine kinase receptor; contains
three major domains: an extracellular domain with 3 Ig-like loops, a highly
hydrophobic transmembrane domain (22 amino acids) and an intracellular
domain with tyrosine kinase activity
Expression
mostly in brain, cartilage, liver, inner ear, kidney
Localisation
plasma membrane
Function
FGF receptor with tyrosine kinase activity; binding of ligand
(FGF) induces receptor dimerization, autophosphorylation and signal
transduction
Homology
with other FGFR (1, 2 and 4); Cek 2 in chicken
Implicated in
Entity name
Disease
plasma cell leukaemia and multiple myeloma
Prognosis
unknown: found in 11 cases, but with no data on clinics
Fusion protein
no fusion protein, but promoter exchange between both partner genes
Oncogenesis
overexpression and activation of FGFR 3 provides an oncogenic signal
Entity name
squeletal dysplasia (inborn diseases)
Disease
hypochondroplasia, achondroplasia, thanatophoric dwarfism (TD I and II), Crouzon syndrome with acanthosis nigricans and coronal craniosynostosis; endochondral and membranous ossification defects are caused by recurrent missense mutations
Breakpoints
Note
Chromosome 4 breakpoints are clustured in a 50-70 kb region centromeric
to FGFR 3
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9207791 | 1997 | 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 et al |
| 9354676 | 1997 | A novel chromosomal translocation t(4; 14)(p16.3; q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene. | Richelda R et al |
| 8078586 | 1994 | Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. | Rousseau F et al |
| 9154000 | 1997 | FGFR activation in skeletal disorders: too much of a good thing. | Webster MK et al |
Other Information
Locus ID:
NCBI: 2261
MIM: 134934
HGNC: 3690
Ensembl: ENSG00000068078
Variants:
dbSNP: 2261
ClinVar: 2261
TCGA: ENSG00000068078
COSMIC: FGFR3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA162373099 | Skeletal Dysplasia | Disease | MultilinkAnnotation | associated | 26555758 | ||
| PA164924492 | brivanib | Chemical | Pathway | associated | 20124951 | ||
| PA166182720 | erdafitinib | Chemical | LabelAnnotation | associated | |||
| PA26880 | CRK | Gene | Pathway | associated | 20124951 | ||
| PA28115 | FGF2 | Gene | Pathway | associated | 20124951 | ||
| PA33304 | PIK3C2A | Gene | Pathway | associated | 20124951 | ||
| PA33305 | PIK3C2B | Gene | Pathway | associated | 20124951 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38084010 | 2024 | Non-Small Cell Lung Carcinoma With Clear Cell Features and FGFR3::TACC3 Gene Rearrangement : Clinicopathologic and Next Generation Sequencing Study of 7 Cases. | 1 |
| 38196202 | 2024 | Associations of TACSTD2/TROP2 and NECTIN-4/NECTIN-4 with molecular subtypes, PD-L1 expression, and FGFR3 mutational status in two advanced urothelial bladder cancer cohorts. | 2 |
| 38244702 | 2024 | N-glycan on N262 of FGFR3 regulates the intracellular localization and phosphorylation of the receptor. | 0 |
| 38411226 | 2024 | Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias. | 0 |
| 38677755 | 2024 | Muscle-Invasive Bladder Cancer With Hydronephrosis Exhibits a High Frequency of Mutations in Fibroblast Growth Factor Receptor 3 Gene. | 0 |
| 38084010 | 2024 | Non-Small Cell Lung Carcinoma With Clear Cell Features and FGFR3::TACC3 Gene Rearrangement : Clinicopathologic and Next Generation Sequencing Study of 7 Cases. | 1 |
| 38196202 | 2024 | Associations of TACSTD2/TROP2 and NECTIN-4/NECTIN-4 with molecular subtypes, PD-L1 expression, and FGFR3 mutational status in two advanced urothelial bladder cancer cohorts. | 2 |
| 38244702 | 2024 | N-glycan on N262 of FGFR3 regulates the intracellular localization and phosphorylation of the receptor. | 0 |
| 38411226 | 2024 | Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias. | 0 |
| 38677755 | 2024 | Muscle-Invasive Bladder Cancer With Hydronephrosis Exhibits a High Frequency of Mutations in Fibroblast Growth Factor Receptor 3 Gene. | 0 |
| 36256257 | 2023 | Autoantibodies Against Trisulfated Heparin Disaccharide and Fibroblast Growth Factor Receptor-3 May Play a Role in the Pathogenesis of Neuropathic Corneal Pain. | 1 |
| 36261652 | 2023 | Evaluation of Volumetric Bone Mineral Density, Bone Microarchitecture, and Bone Strength in Patients with Achondroplasia Caused by FGFR3 c.1138G > A Mutation. | 1 |
| 36273937 | 2023 | FGFR3 Mutational Activation Can Induce Luminal-like Papillary Bladder Tumor Formation and Favors a Male Sex Bias. | 3 |
| 36530080 | 2023 | Infiltrating gliomas with FGFR alterations: Histologic features, genetic alterations, and potential clinical implications. | 3 |
| 36675289 | 2023 | Genetic Interference of FGFR3 Impedes Invasion of Upper Tract Urothelial Carcinoma Cells by Alleviating RAS/MAPK Signal Activity. | 3 |
Citation
Jacky Bonaventure
FGFR3 (Fibroblast Growth Factor Receptor 3)
Atlas Genet Cytogenet Oncol Haematol. 1998-02-01
Online version: http://atlasgeneticsoncology.org/gene/99/fgfr3
