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: Protein kinase, tyrosine (receptor); Protein kinase, TK; Membrane protein, integral; Kinase, protein; EC 220.127.116.11; TK group; FGFR family
Cellular Component: Golgi apparatus; cell surface; integral to plasma membrane; cytoplasmic membrane-bound vesicle; integral to membrane; extracellular region; excitatory synapse; cell cortex; extracellular matrix; membrane; cytoplasm; plasma membrane; nucleus
Molecular Function: heparin binding; identical protein binding; protein binding; protein homodimerization activity; fibroblast growth factor binding; fibroblast growth factor receptor activity; protein-tyrosine kinase activity; ATP binding
Biological Process: embryonic pattern specification; post-embryonic development; embryonic organ morphogenesis; morphogenesis of embryonic epithelium; cell-cell signaling; embryonic digestive tract morphogenesis; positive regulation of mesenchymal cell proliferation; midbrain development; 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; 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; protein amino acid autophosphorylation; pyramidal neuron development; negative regulation of transcription from RNA polymerase II promoter; orbitofrontal cortex development; bone mineralization; odontogenesis; negative regulation of cell proliferation; regulation of osteoblast proliferation; epithelial cell differentiation; positive regulation of MAPKKK cascade; ureteric bud development; epidermis morphogenesis; regulation of smooth muscle cell differentiation; positive regulation of cell proliferation; angiogenesis; lacrimal gland development; otic vesicle formation; positive regulation of Wnt receptor signaling pathway; hair follicle morphogenesis; in utero embryonic development; multicellular organism growth; synaptic vesicle transport; regulation of multicellular organism growth; limb bud formation; gut development; axonogenesis; skeletal morphogenesis; regulation of cell fate commitment; insulin receptor signaling pathway; reproductive structure development; lung development; regulation of smoothened signaling pathway
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.