a receptor tyrosine kinase of the highly-conserved FGFR family that binds fibroblast growth factor (FGF). Mutations are associated with many craniosynostotic syndromes and bone malformations. Mutations cause syndromes with defects in facial and limb development, including Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Apert syndrome, and Jackson-Weiss syndrome. Somatic mutations seen in gastric cancer. Amplified in gastric, breast and some B cell cancers, but deleted in glioblastoma Twenty splice-variant isoforms have been described. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; EC 184.108.40.206; Kinase, protein; Protein kinase, TK; Protein kinase, tyrosine (receptor); TK group; FGFR family
Chromosomal Location of Human Ortholog: 10q26
Cellular Component: Golgi apparatus; cell surface; intracellular membrane-bound organelle; integral to plasma membrane; cytoplasmic membrane-bound vesicle; integral to membrane; extracellular region; excitatory synapse; cell cortex; extracellular matrix; membrane; cytoplasm; nucleolus; plasma membrane; nucleus
Molecular Function: heparin binding; protein binding; fibroblast growth factor binding; protein homodimerization activity; fibroblast growth factor receptor activity; protein-tyrosine kinase activity; ATP binding
Biological Process: nerve growth factor receptor signaling pathway; mesodermal cell differentiation; embryonic pattern specification; post-embryonic development; embryonic organ morphogenesis; morphogenesis of embryonic epithelium; cell-cell signaling; embryonic digestive tract morphogenesis; midbrain development; positive regulation of mesenchymal cell proliferation; ventricular cardiac muscle morphogenesis; neuromuscular junction development; positive regulation of cardiac muscle cell proliferation; inner ear morphogenesis; fibroblast growth factor receptor signaling pathway; cell fate commitment; regulation of osteoblast differentiation; regulation of fibroblast growth factor receptor signaling pathway; positive regulation of cell cycle; embryonic cranial skeleton morphogenesis; neuroblast division in the ventricular zone; organ growth; organ morphogenesis; mesenchymal cell differentiation; positive regulation of cell division; negative regulation of mitosis; embryonic organ development; gland morphogenesis; positive regulation of transcription from RNA polymerase II promoter; alveolus development; positive regulation of epithelial cell proliferation; peptidyl-tyrosine phosphorylation; branching morphogenesis of a nerve; apoptosis; positive regulation of smooth muscle cell proliferation; protein amino acid autophosphorylation; pyramidal neuron development; negative regulation of transcription from RNA polymerase II promoter; orbitofrontal cortex development; bone mineralization; odontogenesis; regulation of osteoblast proliferation; positive regulation of MAPKKK cascade; epithelial cell differentiation; ureteric bud development; epidermis morphogenesis; positive regulation of cell proliferation; regulation of smooth muscle cell differentiation; lacrimal gland development; angiogenesis; otic vesicle formation; positive regulation of Wnt receptor signaling pathway; negative regulation of epithelial cell proliferation; epidermal growth factor receptor signaling pathway; phosphoinositide-mediated signaling; hair follicle morphogenesis; in utero embryonic development; multicellular organism growth; synaptic vesicle transport; regulation of multicellular organism growth; limb bud formation; axonogenesis; gut development; skeletal morphogenesis; regulation of cell fate commitment; insulin receptor signaling pathway; innate immune response; epithelial to mesenchymal transition; reproductive structure development; regulation of smoothened signaling pathway; lung development
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.