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FGFR3 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; FGFR family; Kinase, protein; Membrane protein, integral; Protein kinase, TK; Protein kinase, tyrosine (receptor); TK group
Chromosomal Location of Human Ortholog: 5 B2|5 17.83 cM
Cellular Component: cell surface; cytoplasm; cytoplasmic side of plasma membrane; cytoplasmic vesicle; endoplasmic reticulum; Golgi apparatus; integral component of membrane; integral component of plasma membrane; lysosome; membrane; nucleus; perinuclear region of cytoplasm; plasma membrane; transport vesicle
Molecular Function: ATP binding; fibroblast growth factor binding; fibroblast growth factor-activated receptor activity; identical protein binding; kinase activity; nucleotide binding; protein binding; protein kinase activity; protein tyrosine kinase activity; transferase activity; transmembrane receptor protein tyrosine kinase activity
Biological Process: apoptosis; bone maturation; bone mineralization; cartilage development; cell differentiation; cell-cell signaling; cochlea development; digestive tract morphogenesis; epithelial cell fate commitment; ERK1 and ERK2 cascade; fibroblast growth factor receptor apoptotic signaling pathway; fibroblast growth factor receptor signaling pathway; forebrain development; inner ear development; inner ear receptor cell differentiation; lens fiber cell development; lens morphogenesis in camera-type eye; MAPK 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 gene expression; negative regulation of mitosis; negative regulation of smoothened signaling pathway; negative regulation of transcription from RNA polymerase II promoter; oligodendrocyte development; p38MAPK cascade; peptidyl-tyrosine phosphorylation; phosphorylation; positive regulation of bone mineralization; positive regulation of canonical Wnt signaling pathway; positive regulation of cell differentiation; positive regulation of cell proliferation; positive regulation of cell proliferation in bone marrow; positive regulation of endothelial cell proliferation; positive regulation of ERK1 and ERK2 cascade; positive regulation of MAPK cascade; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway; positive regulation of neuron apoptotic process; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of phosphatidylinositol 3-kinase activity; positive regulation of phospholipase activity; positive regulation of protein ubiquitination; positive regulation of tyrosine phosphorylation of STAT protein; protein amino acid phosphorylation; protein autophosphorylation; regulation of bone remodeling; regulation of collagen metabolic process; regulation of ossification; regulation of osteoclast differentiation; response to axon injury; somatic stem cell maintenance; substantia nigra development
Reference #:  Q61851 (UniProtKB)
Alt. Names/Synonyms: FGFR-3; Fgfr3; Fibroblast growth factor receptor 3; HBGFR; Heparin-binding growth factor receptor; Mfr3; Sam3
Gene Symbols: Fgfr3
Molecular weight: 87,758 Da
Basal Isoelectric point: 5.89  Predict pI for various phosphorylation states
CST Pathways:  Angiogenesis  |  ESC Pluripotency and Differentiation  |  Tyrosine Kinases & Substrates
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