FGFR2
小结
FGFR2是致癌基因，编码蛋白是一种受体酪氨酸激酶，是成纤维细胞生长因子受体（FGFR）家族的成员。FGF配体与FGFR2的结合导致下游信号传导途径的快速二聚化和激活，包括PI3K/AKT和MAPK途径。FGFR2在外胚层衍生的和内皮组织中表达，并且FGFR2信号传导有助于多种细胞功能，包括体内平衡，有丝分裂，增殖和分化。FGFR2的胚系突变与颅缝早闭综合征有关。在子宫内膜癌，胃癌和乳腺癌以及成釉细胞瘤中鉴定了FGFR2的体细胞突变和扩增。
FGFR2 is a receptor tyrosine kinase that is a member of the fibroblast growth factor receptor (FGFR) family. Binding of FGF ligands to FGFR2 results in the rapid dimerization and activation of downstream signaling pathways including the PI3K/AKT and MAPK pathways. FGFR2 is expressed in ectoderm-derived and endothelial tissues and FGFR2 signaling contributes to a variety of cellular functions including homeostasis, mitogenesis, proliferation and differentiation. Germline mutations in FGFR2 have been identified in syndromes of craniosynostosis, which are characterized by abnormal bone development. Single nucleotide polymorphisms in FGFR2 are linked to the development of ER-positive breast cancer, although the etiology remains unclear. Somatic mutations and amplifications of FGFR2 have been identified in several human tumors including endometrial, gastric, and breast cancer as well as ameloblastomas.