FGFR4是致癌基因，编码成纤维细胞生长因子受体4，一种受体酪氨酸激酶。FGFR4蛋白与它的同源配体成纤维细胞生长因子（FGFs）相互作用并受到刺激，导致其构象的改变和随后的下游通路的激活，从而调节细胞分裂和分化。FGFR4的体细胞点突变和扩增是癌症中的常见变异形式。这些改变导致受体信号的增加，引起细胞增殖和肿瘤发生。

FGFR4 is a receptor tyrosine kinase that is a member of the fibroblast growth factor receptor (FGFR) family. Binding of FGF ligands to FGFR4 results in the rapid dimerization and activation of downstream signaling pathways including the PI3K/AKT and MAPK pathways. FGFR4 is most highly expressed in liver and lung tissues and FGFR4 signaling contributes to a variety of cellular functions including proliferation, differentiation, and migration. Germline mutations in FGFR4 have been identified in syndromes of craniosynostosis, which are characterized by abnormal bone development. Somatic amplifications and activating mutations are found in rhabdomyosarcomas and rarely in other solid tumor types. In addition, overexpression of FGFR4 is associated with prostate, colon and liver cancer progression. 

GeneCards OncoKB My Cancer Genome