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
![](image/gene_network_legends.png)
Gene-drug targets distribution
Gene Structure: PDB
Models in FLCN