FGFR3 Recombinant Protein

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009]

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.

Protein type: Protein kinase, TK; Membrane protein, integral; Kinase, protein; Protein kinase, tyrosine (receptor); EC 2.7.10.1; TK group; FGFR family

Chromosomal Location of Human Ortholog: 4p16.3

Cellular Component: Golgi apparatus; internal side of plasma membrane; transport vesicle; cell surface; focal adhesion; endoplasmic reticulum; perinuclear region of cytoplasm; integral to plasma membrane; lysosome; 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; bone mineralization; 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; forebrain development; chondrocyte differentiation; morphogenesis of an epithelium; response to axon injury; skeletal development; negative regulation of epithelial cell proliferation; endochondral ossification; epidermal growth factor receptor signaling pathway; negative regulation of developmental growth; fibroblast growth factor receptor signaling pathway; phosphoinositide-mediated signaling; 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 mitosis; negative regulation of astrocyte differentiation; insulin receptor signaling pathway; innate immune response; lens morphogenesis in camera-type eye; positive regulation of endothelial cell proliferation; positive regulation of cell differentiation

Disease: Bladder Cancer; Achondroplasia; Hypochondroplasia; Muenke Syndrome; Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans; Cervical Cancer; Thanatophoric Dysplasia, Type I; Crouzon Syndrome With Acanthosis Nigricans; Colorectal Cancer; Camptodactyly, Tall Stature, And Hearing Loss Syndrome; Lacrimoauriculodentodigital Syndrome; Thanatophoric Dysplasia, Type Ii; Testicular Germ Cell Tumor; Nevus, Epidermal