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Isoform 2 is detected in epithelial cells. In 20- to 22-week old fetuses it is expressed at high level in kidney, lung, small intestine and brain, and to a lower degree in spleen, liver, and muscle. Very low or no expression in spleen, heart, and muscle.

Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene.Expressed in brain, kidney and testis. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. 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. FGFR family members differ from one another in their ligand affinities and tissue distribution. The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution.Vermeulen JF, Kornegoor R, van der Wall E, van der Groep P, van Diest PJ.PLoS One. Differential expression of growth factor receptors and membrane-bound tumor markers for imaging in male and female breast cancer.The expression of fibroblast growth factor receptors during early bovine conceptus development and pharmacological analysis of their actions on trophoblast growth in vitro.Katano H, Yamada KJ Stroke Cerebrovasc Dis. Upregulation of ANGPTL4 Messenger RNA and Protein in Severely Calcified Carotid Plaques.Lee HJ, Seo AN, Park SY, Kim JY, Park JY, Yu JH, Ahn JH, Gong GAnn Surg Oncol. Low Prognostic Implication of Fibroblast Growth Factor Family Activation in Triple-negative Breast Cancer Subsets.Mannose phosphate isomerase regulates fibroblast growth factor receptor family signaling and glioma radiosensitivity.Ĭazet A, Charest J, Bennett DC, Sambrooks CL, Contessa JNPLoS One.Grygielewicz P, Dymek B, Bujak A, Gunerka P, Stanczak A, Lamparska-Przybysz M, Wieczorek M, Dzwonek K, Zdzalik DGastric Cancer.