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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| folliculin | MIM:607273 | Ensembl:ENSG00000154803 | HGNC:HGNC:27310 | PA134901005 | 17p11.2 |
GO terms in FLCN
| 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 |
| BP | IMP | GO:0010508 | positive regulation of autophagy |
| BP | ISS | GO:0010629 | negative regulation of gene expression |
| BP | ISS | GO:0010823 | negative regulation of mitochondrion organization |
| BP | ISS | GO:0030097 | hemopoiesis |
| BP | IDA | GO:0030308 | negative regulation of cell growth |
| BP | IMP | GO:0030336 | negative regulation of cell migration |
| BP | IDA | GO:0030511 | positive regulation of transforming growth factor beta receptor signaling pathway |
| BP | ISS | GO:0030511 | positive regulation of transforming growth factor beta receptor signaling pathway |
| BP | IMP | GO:0031929 | TOR signaling |
| BP | ISS | GO:0032006 | regulation of TOR signaling |
| BP | ISS | GO:0032007 | negative regulation of TOR signaling |
| BP | ISS | GO:0032008 | positive regulation of TOR signaling |
| BP | IMP | GO:0032465 | regulation of cytokinesis |
| BP | IMP | GO:0035024 | negative regulation of Rho protein signal transduction |
| BP | ISS | GO:0035065 | regulation of histone acetylation |
| BP | ISS | GO:0043065 | positive regulation of apoptotic process |
| BP | IMP | GO:0045785 | positive regulation of cell adhesion |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0051898 | negative regulation of protein kinase B signaling |
| BP | ISS | GO:0070373 | negative regulation of ERK1 and ERK2 cascade |
| BP | ISS | GO:0097009 | energy homeostasis |
| BP | IDA | GO:1900181 | negative regulation of protein localization to nucleus |
| BP | ISS | GO:1901723 | negative regulation of cell proliferation involved in kidney development |
| BP | ISS | GO:2000973 | regulation of pro-B cell differentiation |
| BP | ISS | GO:2001170 | negative regulation of ATP biosynthetic process |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005764 | lysosome |
| CC | IDA | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005929 | cilium |
| CC | IDA | GO:0030496 | midbody |
| CC | IDA | GO:0044291 | cell-cell contact zone |
| MF | IEA | GO:0005085 | guanyl-nucleotide exchange factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0044877 | protein-containing complex binding |
Gene expression in normal tissue: FLCN
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FLCN
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04150 | mTOR signaling pathway - Homo sapiens (human) |
| kegg | hsa05211 | Renal cell carcinoma - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD512 | nutlin 3 | 6 |
| iGMDRD310 | Everolimus | 4 |
| iGMDRD468 | AZ628 | 1 |
| iGMDRD213 | SMR000068650 | 3 |
| iGMDRD232 | FTI-277 | 1 |
| iGMDRD536 | PLX-4720 | 1 |
| iGMDRD152 | 179324-69-7 | 1 |
| iGMDRD366 | PI-103 | 3 |
| iGMDRD132 | (-)-gallocatechin-3-O-gallate | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FLCN
CLASSFICATION
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