a receptor tyrosine kinase of the highly-conserved FGFR family that binds fibroblast growth factor (FGF). Mutations are associated with thanatophoric dysplasia (TD), craniosynostosis Adelaide type, many craniosynostotic syndromes and bone malformations. Three splice-variant isoforms have been described. Activating point mutations cause dwarfism, including achondroplasia, hypochrondroplasia and thanatophoric dysplasia, and facial and other morphogenetic disorders, including Crouzon syndrome, craniosynostosis Adelaide type, San Diego skeletal displasia and Muenke syndrome. Translocations t(4;14) involving the IgH region are common in multiple myeloma and frequently involve FGFR3. Activated FGFR3 found in 30% of bladder cancers and several cervical cancers, but not in other tumors. Two mutations found in colorectal cancer. Note: This description may include information from UniProtKB.
Protein type: EC 22.214.171.124; FGFR family; Kinase, protein; Membrane protein, integral; Protein kinase, TK; Protein kinase, tyrosine (receptor); TK group
Cellular Component: cell surface; cytoplasm; endoplasmic reticulum; Golgi apparatus; integral to plasma membrane; internal side of plasma membrane; lysosome; nucleus; perinuclear region of cytoplasm; plasma membrane; transport vesicle
Biological Process: bone mineralization; cartilage development; cell differentiation; cell-cell signaling; digestive tract morphogenesis; fibroblast growth factor receptor signaling pathway; forebrain development; inner ear development; inner ear receptor cell differentiation; lens morphogenesis in camera-type eye; MAPKKK cascade; morphogenesis of an epithelium; myelination in the central nervous system; negative regulation of astrocyte differentiation; negative regulation of cell proliferation; negative regulation of developmental growth; negative regulation of epithelial cell proliferation; negative regulation of mitosis; negative regulation of smoothened signaling pathway; negative regulation of transcription from RNA polymerase II promoter; oligodendrocyte development; peptidyl-tyrosine phosphorylation; positive regulation of bone mineralization; positive regulation of cell differentiation; positive regulation of cell proliferation; positive regulation of endothelial cell proliferation; positive regulation of MAPKKK cascade; positive regulation of neuron apoptosis; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of phosphoinositide 3-kinase activity; positive regulation of protein ubiquitination; positive regulation of tyrosine phosphorylation of Stat1 protein; positive regulation of tyrosine phosphorylation of Stat3 protein; protein amino acid autophosphorylation; regulation of bone remodeling; regulation of ossification; regulation of osteoclast differentiation; response to axon injury; somatic stem cell maintenance; substantia nigra development