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; Membrane protein, integral; Protein kinase, tyrosine (receptor); EC 126.96.36.199; Protein kinase, TK; TK group; FGFR family
Cellular Component: internal side of plasma membrane; cell surface; focal adhesion; lysosome; endoplasmic reticulum; integral to plasma membrane; perinuclear region of cytoplasm; cytoplasmic membrane-bound vesicle; extracellular region; plasma membrane; nucleus
Molecular Function: protein binding; fibroblast growth factor binding; fibroblast growth factor receptor activity; protein-tyrosine kinase activity; ATP binding
Biological Process: peptidyl-tyrosine phosphorylation; nerve growth factor receptor signaling pathway; somatic stem cell maintenance; protein amino acid autophosphorylation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of tyrosine phosphorylation of Stat3 protein; substantia nigra development; cell-cell signaling; inner ear receptor cell differentiation; positive regulation of MAPKKK cascade; positive regulation of neuron apoptosis; positive regulation of cell proliferation; morphogenesis of an epithelium; chondrocyte differentiation; response to axon injury; skeletal development; endochondral ossification; negative regulation of epithelial cell proliferation; negative regulation of developmental growth; epidermal growth factor receptor signaling pathway; phosphoinositide-mediated signaling; fibroblast growth factor receptor signaling pathway; myelination in the central nervous system; MAPKKK cascade; positive regulation of phosphoinositide 3-kinase activity; digestive tract morphogenesis; JAK-STAT cascade; positive regulation of tyrosine phosphorylation of Stat1 protein; positive regulation of protein ubiquitination; negative regulation of smoothened signaling pathway; negative regulation of astrocyte differentiation; negative regulation of mitosis; insulin receptor signaling pathway; innate immune response; positive regulation of endothelial cell proliferation; lens morphogenesis in camera-type eye; positive regulation of cell differentiation
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.