PMID:20573232

Citation	Hong, SB, Oh, H, Valera, VA, Stull, J, Ngo, DT, Baba, M, Merino, MJ, Linehan, WM and Schmidt, LS (2010) Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling. Mol. Cancer 9:160
Abstract	Germline mutations in the FLCN gene are responsible for the development of fibrofolliculomas, lung cysts and renal neoplasia in Birt-Hogg-Dube' (BHD) syndrome. The encoded protein folliculin (FLCN) is conserved across species but contains no classic motifs or domains and its function remains unknown. Somatic mutations or loss of heterozygosity in the remaining wild type copy of the FLCN gene have been found in renal tumors from BHD patients suggesting that FLCN is a classic tumor suppressor gene.
Links	PubMed PMC2907329 Online version:10.1186/1476-4598-9-160
Keywords	Animals; Cell Line, Tumor; Gene Expression Regulation/physiology; Genes, Tumor Suppressor; Genetic Vectors; Humans; Kidney Neoplasms/genetics; Kidney Neoplasms/pathology; Lentivirus/genetics; Mice; Oligonucleotide Array Sequence Analysis; Proto-Oncogene Proteins/genetics; Proto-Oncogene Proteins/physiology; Signal Transduction/physiology; Transforming Growth Factor beta/metabolism; Tumor Suppressor Proteins/genetics; Tumor Suppressor Proteins/physiology
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Annotations

Gene product	Qualifier	GO Term	Evidence Code	with/from	Aspect	Extension	Notes	Status
HUMAN:TGFB1	involved_in	GO:0007182: common-partner SMAD protein phosphorylation	ECO:0000314: direct assay evidence used in manual assertion		P	has_participant:(UniProtKB:P84022)	Seeded From UniProt	complete
HUMAN:INHBA	involved_in	GO:0030308: negative regulation of cell growth	ECO:0000314: direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
HUMAN:INHBA	involved_in	GO:0042493: response to drug	ECO:0000314: direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
HUMAN:BMP4	involved_in	GO:0007182: common-partner SMAD protein phosphorylation	ECO:0000314: direct assay evidence used in manual assertion		P	has_participant:(UniProtKB:Q99717)|has_participant:(UniProtKB:Q15797)|has_participant:(UniProtKB:P84022)	Seeded From UniProt	complete
HUMAN:TGFB2	involved_in	GO:0030307: positive regulation of cell growth	ECO:0000314: direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
HUMAN:TGFB2	involved_in	GO:0042493: response to drug	ECO:0000314: direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
HUMAN:FLCN	involved_in	GO:0030511: positive regulation of transforming growth factor beta receptor signaling pathway	ECO:0000314: direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
HUMAN:FLCN	involved_in	GO:0030308: negative regulation of cell growth	ECO:0000314: direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
HUMAN:FLCN	involved_in	GO:0000122: negative regulation of transcription by RNA polymerase II	ECO:0000314: direct assay evidence used in manual assertion		P	has_input:(UniProtKB:O60565)	Seeded From UniProt	complete
HUMAN:FLCN	involved_in	GO:0045944: positive regulation of transcription by RNA polymerase II	ECO:0000314: direct assay evidence used in manual assertion		P	has_input:(UniProtKB:P61812)|has_input:(UniProtKB:P08476)|has_input:(UniProtKB:P84022)|has_input:(UniProtKB:P07996)	Seeded From UniProt	complete
HUMAN:TGFB1	involved_in	GO:0007182: common-partner SMAD protein phosphorylation	ECO:0000314: direct assay evidence used in manual assertion		P	has_participant:(UniProtKB:P84022)	Seeded From UniProt	complete
HUMAN:BMP4	involved_in	GO:0007182: common-partner SMAD protein phosphorylation	ECO:0000314: direct assay evidence used in manual assertion		P	has_participant:(UniProtKB:Q99717)|has_participant:(UniProtKB:Q15797)|has_participant:(UniProtKB:P84022)	Seeded From UniProt	complete

References

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