FGFR3 Back

fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)

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NCBI Description of FGFR3

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described.

Community Annotation of FGFR3 Add / Edit FGFR3: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

FGFR3 is highly significantly mutated in
FGFR3 is significantly mutated in
Bladder
BLCA
8 patients (8%)
combined cohort
PanCan
50 patients (1%)
FGFR3 is near significance in
Neuroblastoma
NB
2 patients (2%)
Multiple myeloma
MM
5 patients (2%)
Lung squamous cell carcinoma
LUSC
4 patients (2%)
Kidney clear cell
KIRC
4 patients (0%)

Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for FGFR3