Gene: FGFR4

Alternate names for this Gene: CD334|JTK2|TKF

Gene Summary: The protein encoded by this gene is a tyrosine kinase and cell surface receptor for fibroblast growth factors. The encoded protein is involved in the regulation of several pathways, including cell proliferation, cell differentiation, cell migration, lipid metabolism, bile acid biosynthesis, vitamin D metabolism, glucose uptake, and phosphate homeostasis. This protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment, and a cytoplasmic tyrosine kinase domain. The extracellular portion interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.2

Description of this Gene: fibroblast growth factor receptor 4

Type of Gene: protein-coding

rs351855 in FGFR4 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs1966265 in FGFR4 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

rs3135911 in FGFR4 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

rs422421 in FGFR4 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs351855 in FGFR4 gene and Low density lipoprotein cholesterol measurement PMID 29083408 2017 Exome-wide association study of plasma lipids in >300,000 individuals.

rs351855 in FGFR4 gene and Malignant neoplasm of prostate PMID 18756523 2008 Our results indicate that the FGFR4 Arg allele of the Gly388Arg polymorphism and the G allele of the rs2011077 polymorphism have a significant impact on the development of prostate cancer and BPH, and the progression of prostate cancer in a Japanese population.

PMID 21349172 2011 This meta-analysis showed the evidence that FGFR4 Gly388Arg polymorphism was associated with an increased risk of prostate cancer development and progression, suggesting that FGFR4 Gly388Arg polymorphism could be a marker for prostate cancer development and progression.

PMID 20876804 2010 Fibroblast growth factor receptor 4 regulates tumor invasion by coupling fibroblast growth factor signaling to extracellular matrix degradation.

PMID 18670643 2008 Altered fibroblast growth factor receptor 4 stability promotes prostate cancer progression.

rs1057520036 in FGFR4 gene and Mammary Neoplasms PMID 19946327 2010 The FGFR4 Y367C mutant is a dominant oncogene in MDA-MB453 breast cancer cells.

rs1057519792 in FGFR4 gene and Rhabdomyosarcoma PMID 24124571 2013 Targeting wild-type and mutationally activated FGFR4 in rhabdomyosarcoma with the inhibitor ponatinib (AP24534).

PMID 19809159 2009 Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models.

rs1966265 in FGFR4 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.