FLCN


Summary: This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:607273
PHARMGKB IDPA134901005
Map Location17p11.2

GO terms in FLCN


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Term Type
Evidence Type
GO Term ID
GO Des.
BP IDA GO:0000122 negative regulation of transcription by RNA polymerase II
BP IMP GO:0000122 negative regulation of transcription by RNA polymerase II
BP ISS GO:0001701 in utero embryonic development
BP IDA GO:0001932 regulation of protein phosphorylation
BP ISS GO:0001934 positive regulation of protein phosphorylation
BP ISS GO:0007043 cell-cell junction assembly
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Gene expression in normal tissue: FLCN

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in FLCN


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Database
Pathway ID
Pathway Des.
kegg hsa04150 mTOR signaling pathway - Homo sapiens (human)
kegg hsa05211 Renal cell carcinoma - Homo sapiens (human)
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD512 nutlin 3 6
iGMDRD310 Everolimus 4
iGMDRD468 AZ628 1
iGMDRD213 SMR000068650 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in FLCN

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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