FGFR2

Fibroblast growth factor receptor 2, also known as FGFR2, is a transmembrane protein encoded by the FGFR2 gene in humans. It belongs to the fibroblast growth factor receptor family, which are receptor tyrosine kinases. FGFR2 plays a crucial role in embryonic development, regulating processes such as bone formation, skin development, and tooth development. It is activated by fibroblast growth factors (FGFs), a family of signaling proteins.

Upon binding of an FGF ligand to FGFR2, the receptor dimerizes and undergoes autophosphorylation, initiating a downstream signaling cascade. This cascade involves various intracellular pathways, including the RAS/MAPK, PI3K/AKT, and PLCγ pathways, which ultimately control cell proliferation, differentiation, migration, and survival. The specific function of FGFR2 is further diversified through alternative splicing of its mRNA, leading to different receptor isoforms with distinct ligand-binding properties and cellular localization.

Dysregulation of FGFR2 signaling is implicated in a variety of human diseases. Mutations in the FGFR2 gene are associated with skeletal dysplasias, such as Apert syndrome, Crouzon syndrome, and Pfeiffer syndrome, which are characterized by craniosynostosis and limb abnormalities. Aberrant FGFR2 expression and activity have also been observed in several types of cancer, including breast, ovarian, and endometrial cancers, where it can promote tumor growth, invasion, and metastasis. Consequently, FGFR2 has emerged as a significant therapeutic target in oncology.