FGFR4 Chromosome 5

Fibroblast growth factor receptor 4
1 variant 1 Health Risk

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What This Gene Does
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. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"Receptor tyrosine kinases|CD molecules|I-set domain containing"
Locus Type
gene with protein product
Location
5q35.2
Ensembl
ENSG00000160867
Associated Conditions (3)
Cancer progression and tumor cell motility
See cases
FGFR4-related disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS351855 Health Risk Conflicting classifications of pathogenicity Cancer progression and tumor cell motility, See cases, FGFR4-related disorder
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