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: Kinase, protein; Protein kinase, tyrosine (receptor); Protein kinase, TK; Membrane protein, integral; EC 22.214.171.124; TK group; FGFR family
Cellular Component: Golgi apparatus; internal side of plasma membrane; cell surface; endoplasmic reticulum; integral to plasma membrane; lysosome; integral to membrane; transport vesicle; membrane; perinuclear region of cytoplasm; cytoplasm; plasma membrane; cytoplasmic vesicle; nucleus
Molecular Function: transferase activity; protein binding; fibroblast growth factor binding; fibroblast growth factor receptor activity; protein-tyrosine kinase activity; transferase activity, transferring phosphorus-containing groups; nucleotide binding; transmembrane receptor protein tyrosine kinase activity; kinase activity; ATP binding; protein kinase activity
Biological Process: peptidyl-tyrosine phosphorylation; somatic stem cell maintenance; apoptosis; protein amino acid autophosphorylation; negative regulation of transcription from RNA polymerase II promoter; protein amino acid phosphorylation; bone mineralization; positive regulation of tyrosine phosphorylation of Stat3 protein; negative regulation of cell proliferation; substantia nigra development; cell-cell signaling; inner ear receptor cell differentiation; positive regulation of MAPKKK cascade; positive regulation of neuron apoptosis; forebrain development; positive regulation of cell proliferation; morphogenesis of an epithelium; response to axon injury; cell differentiation; oligodendrocyte development; inner ear development; skeletal development; negative regulation of epithelial cell proliferation; negative regulation of developmental growth; fibroblast growth factor receptor signaling pathway; myelination in the central nervous system; MAPKKK cascade; positive regulation of phosphoinositide 3-kinase activity; digestive tract morphogenesis; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of tyrosine phosphorylation of Stat1 protein; positive regulation of protein ubiquitination; cartilage development; negative regulation of smoothened signaling pathway; negative regulation of astrocyte differentiation; negative regulation of mitosis; positive regulation of endothelial cell proliferation; lens morphogenesis in camera-type eye; positive regulation of cell differentiation; phosphorylation
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.