Property Summary

NCBI Gene PubMed Count 79
Grant Count 48
R01 Count 8
Funding $7,130,536.53
PubMed Score 388.76
PubTator Score 209.27

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
malignant mesothelioma 1.200 0.000
astrocytic glioma -1.300 0.047
ependymoma 1.200 0.027
oligodendroglioma 1.400 0.008
osteosarcoma -3.998 0.000
atypical teratoid / rhabdoid tumor -1.400 0.000
glioblastoma -1.700 0.000
medulloblastoma -1.400 0.002
medulloblastoma, large-cell -1.800 0.004
primitive neuroectodermal tumor -1.300 0.008
pediatric high grade glioma -1.300 0.001
Alzheimer's disease 1.300 0.016
Pick disease 1.300 0.000
progressive supranuclear palsy 1.500 0.023
pituitary cancer -2.300 0.000

Gene RIF (64)

PMID Text
26439621 we show that glycogen accumulates in kidneys from mice lacking FLCN and in renal tumors from a BHD patient
26418749 mTOR inhibitor, sirolimus, suppresses the tumor's growth, suggesting that mTOR inhibitors might be effective in control of FLCN-deficient RCC.
26398834 FLCN irregulation in lung cysts of primary spontaneous pneumothorax is not associated with promoter methylation.
26342594 We identified a hitherto unreported pathogenic FLCN frameshift deletion c.563delT (p.Phe188Serfs*35) in a family of a 46-year-old woman presented with macrohematuria due to bilateral chromophobe renal carcinomas
25827758 Case Report: FLCN deletion mutation in members of Indian Birt-Hogg-Dube syndrome family.
25807935 This report documents the first identification of founder mutations in FLCN, as well as expands mutation spectrum of the gene
25594584 FLCN-related renal cell carcinomas showed overexpression of GPNMB and underexpression of FLCN, whereas sporadic tumors showed inverted patterns.
25583493 Two predominant genes, ephrin type A receptor 6 (EPHA6) and folliculin (FLCN), with mutations exclusive to African American CRCs, are by genetic and biological criteria highly likely African American CRC driver genes.
25126726 The FLCN-GABARAP association is modulated by the presence of either folliculin-interacting protein (FNIP)-1 or FNIP2 and further regulated by ULK1.
24996715 Birt-Hogg-Dube (BHD) syndrome is a recently discovered autosomal-dominant disease caused by a mutation in the folliculin gene.
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AA Sequence

MNAIVALCHFCELHGPRTLFCTEVLHAPLPQGDGNEDSPGQGEQAEEEEGGIQMNSRMRAHSPAEGASVE      1 - 70
SSSPGPKKSDMCEGCRSLAAGHPGYISHDKETSIKYVSHQHPSHPQLFSIVRQACVRSLSCEVCPGREGP     71 - 140
IFFGDEQHGFVFSHTFFIKDSLARGFQRWYSIITIMMDRIYLINSWPFLLGKVRGIIDELQGKALKVFEA    141 - 210
EQFGCPQRAQRMNTAFTPFLHQRNGNAARSLTSLTSDDNLWACLHTSFAWLLKACGSRLTEKLLEGAPTE    211 - 280
DTLVQMEKLADLEEESESWDNSEAEEEEKAPVLPESTEGRELTQGPAESSSLSGCGSWQPRKLPVFKSLR    281 - 350
HMRQVLGAPSFRMLAWHVLMGNQVIWKSRDVDLVQSAFEVLRTMLPVGCVRIIPYSSQYEEAYRCNFLGL    351 - 420
SPHVQIPPHVLSSEFAVIVEVHAAARSTLHPVGCEDDQSLSKYEFVVTSGSPVAADRVGPTILNKIEAAL    421 - 490
TNQNLSVDVVDQCLVCLKEEWMNKVKVLFKFTKVDSRPKEDTQKLLSILGASEEDNVKLLKFWMTGLSKT    491 - 560
YKSHLMSTVRSPTASESRN                                                       561 - 579
//

Text Mined References (85)

PMID Year Title
27353360 2016 The FNIP co-chaperones decelerate the Hsp90 chaperone cycle and enhance drug binding.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26439621 2015 FLCN and AMPK Confer Resistance to Hyperosmotic Stress via Remodeling of Glycogen Stores.
26418749 2015 Flcn-deficient renal cells are tumorigenic and sensitive to mTOR suppression.
26398834 2015 Promoter methylation is not associated with FLCN irregulation in lung cyst lesions of primary spontaneous pneumothorax.
26342594 2016 Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.
25827758 2015 Genetic analysis of familial spontaneous pneumothorax in an Indian family.
25807935 2015 FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax.
25594584 2015 Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.
25583493 2015 Novel recurrently mutated genes in African American colon cancers.
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