Fibroblast Growth Factor Receptor 3 (FGFR3) ELISA Kit for Human

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

Chromosomal Location of Human Ortholog: 4p16.3

Cellular Component: cell surface; endoplasmic reticulum; extracellular region; focal adhesion; Golgi apparatus; integral to plasma membrane; internal side of plasma membrane; lysosome; nucleus; perinuclear region of cytoplasm; plasma membrane; transport vesicle

Molecular Function: ATP binding; fibroblast growth factor binding; fibroblast growth factor receptor activity; protein binding; protein-tyrosine kinase activity

Biological Process: activation of MAPKK activity; axon guidance; bone mineralization; cell-cell signaling; chondrocyte differentiation; digestive tract morphogenesis; endochondral ossification; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; forebrain development; innate immune response; inner ear receptor cell differentiation; insulin receptor signaling pathway; JAK-STAT cascade; lens morphogenesis in camera-type eye; MAPKKK 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 mitosis; negative regulation of smoothened signaling pathway; negative regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; peptidyl-tyrosine phosphorylation; phosphoinositide-mediated signaling; positive regulation of cell differentiation; positive regulation of cell proliferation; positive regulation of endothelial cell proliferation; positive regulation of MAPKKK cascade; positive regulation of neuron apoptosis; positive regulation of phosphoinositide 3-kinase activity; positive regulation of protein ubiquitination; positive regulation of tyrosine phosphorylation of Stat1 protein; positive regulation of tyrosine phosphorylation of Stat3 protein; protein amino acid autophosphorylation; Ras protein signal transduction; response to axon injury; skeletal development; small GTPase mediated signal transduction; somatic stem cell maintenance; substantia nigra development; vascular endothelial growth factor receptor signaling pathway

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