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FGFR2 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: EC; FGFR family; Kinase, protein; Membrane protein, integral; Oncoprotein; Protein kinase, TK; Protein kinase, tyrosine (receptor); TK group
Chromosomal Location of Human Ortholog: 10q26.13
Cellular Component: cell cortex; cell surface; cytoplasm; cytoplasmic vesicle; excitatory synapse; extracellular matrix; Golgi apparatus; integral component of membrane; integral component of plasma membrane; intracellular membrane-bound organelle; membrane; nucleoplasm; nucleus; plasma membrane
Molecular Function: 1-phosphatidylinositol-3-kinase activity; ATP binding; fibroblast growth factor binding; fibroblast growth factor-activated receptor activity; heparin binding; phosphatidylinositol-4,5-bisphosphate 3-kinase activity; protein binding; protein homodimerization activity; protein tyrosine kinase activity; Ras guanyl-nucleotide exchange factor activity
Biological Process: alveolus development; angiogenesis; apoptosis; axonogenesis; bone mineralization; branching morphogenesis of a nerve; cell fate commitment; cell-cell signaling; cellular response to retinoic acid; cellular response to transforming growth factor beta stimulus; embryonic cranial skeleton morphogenesis; embryonic digestive tract morphogenesis; embryonic organ development; embryonic organ morphogenesis; embryonic pattern specification; endochondral bone growth; epidermis morphogenesis; epithelial cell differentiation; epithelial to mesenchymal transition; fibroblast growth factor receptor signaling pathway; gland morphogenesis; gut development; hair follicle morphogenesis; in utero embryonic development; inner ear morphogenesis; lacrimal gland development; limb bud formation; lung development; MAPK cascade; membranous septum morphogenesis; mesenchymal cell differentiation; mesodermal cell differentiation; midbrain development; morphogenesis of embryonic epithelium; multicellular organism growth; negative regulation of epithelial cell proliferation; negative regulation of transcription from RNA polymerase II promoter; odontogenesis; orbitofrontal cortex development; organ growth; organ morphogenesis; otic vesicle formation; outflow tract septum morphogenesis; peptidyl-tyrosine phosphorylation; phosphatidylinositol phosphorylation; positive regulation of canonical Wnt signaling pathway; positive regulation of cardiac muscle cell proliferation; positive regulation of cell cycle; positive regulation of cell division; positive regulation of cell proliferation; positive regulation of epithelial cell proliferation; positive regulation of ERK1 and ERK2 cascade; positive regulation of MAPK cascade; positive regulation of mesenchymal cell proliferation; positive regulation of phospholipase activity; positive regulation of protein kinase B signaling; positive regulation of smooth muscle cell proliferation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of Wnt receptor signaling pathway; post-embryonic development; protein autophosphorylation; pyramidal neuron development; regulation of cell fate commitment; regulation of ERK1 and ERK2 cascade; regulation of fibroblast growth factor receptor signaling pathway; regulation of multicellular organism growth; regulation of osteoblast differentiation; regulation of osteoblast proliferation; regulation of smooth muscle cell differentiation; regulation of smoothened signaling pathway; reproductive structure development; response to ethanol; response to lipopolysaccharide; skeletal morphogenesis; ureteric bud development; ventricular cardiac muscle tissue morphogenesis; ventricular zone neuroblast division; wound healing
Disease: Antley-bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis; Apert Syndrome; Beare-stevenson Cutis Gyrata Syndrome; Bent Bone Dysplasia Syndrome; Crouzon Syndrome; Gastric Cancer; Jackson-weiss Syndrome; Lacrimoauriculodentodigital Syndrome; Pfeiffer Syndrome; Saethre-chotzen Syndrome; Scaphocephaly, Maxillary Retrusion, And Mental Retardation
Reference #:  P21802 (UniProtKB)
Alt. Names/Synonyms: bacteria-expressed kinase; BEK; BEK fibroblast growth factor receptor; BFR-1; CD332; CEK3; CFD1; ECT1; FGF receptor; FGFR-2; FGFR2; Fibroblast growth factor receptor 2; FLJ98662; JWS; K-sam; Keratinocyte growth factor receptor; KGFR; KSAM; protein tyrosine kinase, receptor like 14; soluble FGFR4 variant 4; TK14; TK25
Gene Symbols: FGFR2
Molecular weight: 92,025 Da
Basal Isoelectric point: 5.61  Predict pI for various phosphorylation states
CST Pathways:  Angiogenesis  |  ESC Pluripotency and Differentiation  |  Tyrosine Kinases & Substrates
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