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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: 4p16.3
Cellular Component: endoplasmic reticulum; focal adhesion; Golgi apparatus; integral to plasma membrane; plasma membrane; transport vesicle
Molecular Function: 1-phosphatidylinositol-3-kinase activity; fibroblast growth factor binding; fibroblast growth factor receptor activity; phosphatidylinositol-4,5-bisphosphate 3-kinase activity; protein binding; protein-tyrosine kinase activity; Ras guanyl-nucleotide exchange factor activity
Biological Process: bone mineralization; chondrocyte differentiation; endochondral ossification; fibroblast growth factor receptor signaling pathway; JAK-STAT cascade; MAPKKK cascade; negative regulation of developmental growth; peptidyl-tyrosine phosphorylation; phosphoinositide-mediated signaling; positive regulation of cell proliferation; positive regulation of MAPKKK cascade; positive regulation of phosphoinositide 3-kinase activity; positive regulation of tyrosine phosphorylation of STAT protein; protein amino acid autophosphorylation; regulation of phosphoinositide 3-kinase cascade; skeletal development
Disease: Achondroplasia; Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans; Bladder Cancer; Camptodactyly, Tall Stature, And Hearing Loss Syndrome; Cervical Cancer; Colorectal Cancer; Crouzon Syndrome With Acanthosis Nigricans; Hypochondroplasia; Lacrimoauriculodentodigital Syndrome; Muenke Syndrome; Nevus, Epidermal; Testicular Germ Cell Tumor; Thanatophoric Dysplasia, Type I; Thanatophoric Dysplasia, Type Ii
Reference #:  P22607 (UniProtKB)
Alt. Names/Synonyms: ACH; achondroplasia, thanatophoric dwarfism; CD333; CEK2; FGFR-3; FGFR3; Fibroblast growth factor receptor 3; HSFGFR3EX; JTK4; tyrosine kinase JTK4
Gene Symbols: FGFR3
Molecular weight: 87,710 Da
Basal Isoelectric point: 5.59  Predict pI for various phosphorylation states
CST Pathways:  Angiogenesis  |  ESC Pluripotency and Differentiation  |  Tyrosine Kinases & Substrates
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