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PMID:20573232

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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

Significance

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

See also

References

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