AAM22079.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
85,083 Da
NCBI Official Full Name
fibroblast growth factor receptor 3, partial
NCBI Official Synonym Full Names
fibroblast growth factor receptor 3
NCBI Official Synonym Symbols
ACH; CEK2; JTK4; CD333; HSFGFR3EX [Similar Products]
NCBI Protein Information
fibroblast growth factor receptor 3
UniProt Protein Name
Fibroblast growth factor receptor 3
UniProt Synonym Protein Names
CD_antigen: CD333
UniProt Synonym Gene Names
UniProt Entry Name
FGFR3_HUMAN
NCBI Summary for FGFR3
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]
UniProt Comments for FGFR3
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; Kinase, protein; Membrane protein, integral; EC 2.7.10.1; Protein kinase, tyrosine (receptor); TK group; FGFR family
Chromosomal Location of Human Ortholog: 4p16.3
Cellular Component: Golgi apparatus; transport vesicle; internal side of plasma membrane; cell surface; focal adhesion; integral to plasma membrane; perinuclear region of cytoplasm; lysosome; endoplasmic reticulum; 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; positive regulation of MAPKKK cascade; cell-cell signaling; inner ear receptor cell differentiation; positive regulation of neuron apoptosis; forebrain development; positive regulation of cell proliferation; chondrocyte differentiation; morphogenesis of an epithelium; response to axon injury; skeletal development; endochondral ossification; negative regulation of epithelial cell proliferation; 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; Colorectal Cancer; Crouzon Syndrome With Acanthosis Nigricans; Lacrimoauriculodentodigital Syndrome; Camptodactyly, Tall Stature, And Hearing Loss Syndrome; Thanatophoric Dysplasia, Type Ii; Testicular Germ Cell Tumor; Nevus, Epidermal
Research Articles on FGFR3
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Pathways associated with FGFR3 elisa kit
Diseases associated with FGFR3 elisa kit
Organs/Tissues associated with FGFR3 elisa kit
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