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].
Loading, please wait...
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
Loading, please wait...
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
Loading, please wait...
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.