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 |
---|---|---|---|---|---|
Namefolliculin OMIM IDMIM:607273 Ensembl IDEnsembl:ENSG00000154803 HGNC IDHGNC:HGNC:27310 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 |
Gene expression in normal tissue: FLCN
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FLCN
Gene-Drug: Aster Plot
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 | |
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No matching records found |