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FLASH GENE
Symbol FGFR4 contributors: mct - updated : 21-03-2020
HGNC name fibroblast growth factor receptor 4
HGNC id 3691
ASSOCIATED DISORDERS
corresponding disease(s) DUP5QD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in pancreatic cancer (mediated by an intronic enhancer activated by HNF1alpha)
tumoral     --over  
in lung carcinoma
tumoral     --over  
in all epithelial carcinomas
tumoral       gain of function
in several solid tumors including hepatocellular carcinoma (HCC), breast cancer, oropharyngeal squamous cell carcinoma (OPSCC), and pancreatic cancer (
Susceptibility
  • to cancer invasion
  • to hepatocellular carcinoma coupled with liver cirrhosis
  • Variant & Polymorphism other
  • Gly388Arg polymorphism most likely contributes to susceptibility to cancer
  • -R388 risk variant is a unique inducer of MMP14 and collagen invasion
  • polymorphism in FGFR4 rs351855 may be associated with the risk of HCC coupled with liver cirrhosis
  • Candidate gene for limb malformation in terminal del5q patients
    Marker
  • is a potential prognostic marker for colorectal cancer
  • Therapy target
    SystemTypeDisorderPubmed
    digestiveliver 
    inhibition of FGFR4 activation may be an effective way to prevent or treat nonalcoholic fatty liver disease (NAFLD)
    cancerdigestiveliver
    frequent overexpression in patients renders its inhibition a novel and much needed pharmacological approach against hepatocellular carcinoma
    cancerreproductivebreast
    targeting FGFR4 in breast cancer cells overexpressing FGF19 may represent an effective strategy to suppress cancer development, progression, and metastasis
    cancerdigestivecolon
    therapeutic marker for colorectal cancer
    ANIMAL & CELL MODELS
  • Fgfr4-deficient mice exhibit an elevated bile acid synthesis due to the upregulation of CYP7A1 in the liver, indicating that activation of hepatocyte FGFR4 negatively regulates bile acid synthesis