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A few cases of non-Hodgkins lymphomas and duct carcinomas of breast displayed moderate to strong cytoplasmic positivity. Remaining malignant tissues were negative.
Skin cancers as well as several cases of cervical, lung, urothelial and liver cancers displayed moderate to strong immunoreactivity. Remaining cancer tissues were in general negative.
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. 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 is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. 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. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Biotech drugs Small molecule drugs Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000165 [MAPK cascade] GO:0000186 [activation of MAPKK activity] GO:0001525 [angiogenesis] GO:0001657 [ureteric bud development] GO:0001701 [in utero embryonic development] GO:0002053 [positive regulation of mesenchymal cell proliferation] GO:0003148 [outflow tract septum morphogenesis] GO:0003149 [membranous septum morphogenesis] GO:0004713 [protein tyrosine kinase activity] GO:0005007 [fibroblast growth factor-activated receptor activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005576 [extracellular region] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0005794 [Golgi apparatus] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0005938 [cell cortex] GO:0006915 [apoptotic process] GO:0007173 [epidermal growth factor receptor signaling pathway] GO:0007264 [small GTPase mediated signal transduction] GO:0007265 [Ras protein signal transduction] GO:0007267 [cell-cell signaling] GO:0007409 [axonogenesis] GO:0007411 [axon guidance] GO:0008201 [heparin binding] GO:0008284 [positive regulation of cell proliferation] GO:0008286 [insulin receptor signaling pathway] GO:0008543 [fibroblast growth factor receptor signaling pathway] GO:0008589 [regulation of smoothened signaling pathway] GO:0009791 [post-embryonic development] GO:0009880 [embryonic pattern specification] GO:0009887 [organ morphogenesis] GO:0009986 [cell surface] GO:0010453 [regulation of cell fate commitment] GO:0010518 [positive regulation of phospholipase activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016023 [cytoplasmic membrane-bounded vesicle] GO:0016331 [morphogenesis of embryonic epithelium] GO:0017134 [fibroblast growth factor binding] GO:0018108 [peptidyl-tyrosine phosphorylation] GO:0021769 [orbitofrontal cortex development] GO:0021847 [ventricular zone neuroblast division] GO:0021860 [pyramidal neuron development] GO:0022612 [gland morphogenesis] GO:0030177 [positive regulation of Wnt signaling pathway] GO:0030282 [bone mineralization] GO:0030324 [lung development] GO:0030855 [epithelial cell differentiation] GO:0030901 [midbrain development] GO:0030916 [otic vesicle formation] GO:0031012 [extracellular matrix] GO:0031069 [hair follicle morphogenesis] GO:0032808 [lacrimal gland development] GO:0033688 [regulation of osteoblast proliferation] GO:0035264 [multicellular organism growth] GO:0035265 [organ growth] GO:0035602 [fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow] GO:0035603 [fibroblast growth factor receptor signaling pathway involved in hemopoiesis] GO:0035604 [fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow] GO:0035607 [fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development] GO:0038095 [Fc-epsilon receptor signaling pathway] GO:0040014 [regulation of multicellular organism growth] GO:0040036 [regulation of fibroblast growth factor receptor signaling pathway] GO:0042472 [inner ear morphogenesis] GO:0042476 [odontogenesis] GO:0042803 [protein homodimerization activity] GO:0043231 [intracellular membrane-bounded organelle] GO:0043410 [positive regulation of MAPK cascade] GO:0045087 [innate immune response] GO:0045165 [cell fate commitment] GO:0045667 [regulation of osteoblast differentiation] GO:0045787 [positive regulation of cell cycle] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046777 [protein autophosphorylation] GO:0048010 [vascular endothelial growth factor receptor signaling pathway] GO:0048011 [neurotrophin TRK receptor signaling pathway] GO:0048015 [phosphatidylinositol-mediated signaling] GO:0048286 [lung alveolus development] GO:0048557 [embryonic digestive tract morphogenesis] GO:0048562 [embryonic organ morphogenesis] GO:0048565 [digestive tract development] GO:0048568 [embryonic organ development] GO:0048608 [reproductive structure development] GO:0048701 [embryonic cranial skeleton morphogenesis] GO:0048705 [skeletal system morphogenesis] GO:0048730 [epidermis morphogenesis] GO:0048755 [branching morphogenesis of a nerve] GO:0048762 [mesenchymal cell differentiation] GO:0050679 [positive regulation of epithelial cell proliferation] GO:0051150 [regulation of smooth muscle cell differentiation] GO:0051781 [positive regulation of cell division] GO:0055010 [ventricular cardiac muscle tissue morphogenesis] GO:0060045 [positive regulation of cardiac muscle cell proliferation] GO:0060076 [excitatory synapse] GO:0060174 [limb bud formation] GO:0060348 [bone development] GO:0060349 [bone morphogenesis] GO:0060442 [branching involved in prostate gland morphogenesis] GO:0060445 [branching involved in salivary gland morphogenesis] GO:0060449 [bud elongation involved in lung branching] GO:0060463 [lung lobe morphogenesis] GO:0060484 [lung-associated mesenchyme development] GO:0060501 [positive regulation of epithelial cell proliferation involved in lung morphogenesis] GO:0060512 [prostate gland morphogenesis] GO:0060523 [prostate epithelial cord elongation] GO:0060527 [prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis] GO:0060529 [squamous basal epithelial stem cell differentiation involved in prostate gland acinus development] GO:0060595 [fibroblast growth factor receptor signaling pathway involved in mammary gland specification] GO:0060601 [lateral sprouting from an epithelium] GO:0060615 [mammary gland bud formation] GO:0060664 [epithelial cell proliferation involved in salivary gland morphogenesis] GO:0060667 [branch elongation involved in salivary gland morphogenesis] GO:0060670 [branching involved in labyrinthine layer morphogenesis] GO:0060687 [regulation of branching involved in prostate gland morphogenesis] GO:0060688 [regulation of morphogenesis of a branching structure] GO:0060915 [mesenchymal cell differentiation involved in lung development] GO:0060916 [mesenchymal cell proliferation involved in lung development] GO:0070372 [regulation of ERK1 and ERK2 cascade] GO:0070374 [positive regulation of ERK1 and ERK2 cascade] GO:0090263 [positive regulation of canonical Wnt signaling pathway]
Predicted intracellular proteins RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)