The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative 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 of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
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Function:
Receptor for basic fibroblast growth factor. Receptor for FGF23 in the presence of KL (By similarity). A shorter form of the receptor could be a receptor for FGF1 (aFGF).
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Cellular Localization:
Cell membrane; Single-pass type I membrane protein. Nucleus. Cytoplasm, cytosol. Cytoplasmic vesicle. After ligand binding, both receptor and ligand are rapidly internalized. Can translocate to the nucleus after internalization, or by translocation from the endoplasmic reticulum or Golgi apparatus to the cytosol, and from there to the nucleus.
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Tissue Expression:
Detected in astrocytoma, neuroblastoma and adrenal cortex cell lines. Some isoforms are detected in foreskin fibroblast cell lines, however isoform 17, isoform 18 and isoform 19 are not detected in these cells.
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Research Areas:
>>MAPK signaling pathway ;
>>Ras signaling pathway ;
>>Rap1 signaling pathway ;
>>Calcium signaling pathway ;
>>PI3K-Akt signaling pathway ;
>>Adherens junction ;
>>Signaling pathways regulating pluripotency of stem cells ;
>>Thermogenesis ;
>>Regulation of actin cytoskeleton ;
>>Parathyroid hormone synthesis, secretion and action ;
>>Pathways in cancer ;
>>Proteoglycans in cancer ;
>>Prostate cancer ;
>>Melanoma ;
>>Breast cancer ;
>>Central carbon metabolism in cancer