FLCN folliculin [Homo sapiens (human)]
| Gene Symbol | FLCN |
| Entrez Gene ID | 201163 |
| Full Name | folliculin |
| Synonyms | BHD, DKFZp547A118, FLCL, FLJ45004, FLJ99377, MGC17998, MGC23445 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
17 17p11.2 |
| 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]. |
| Disorder | MIM: 607273 Birt-Hogg-Dube syndrome, 135150 (3); Pneumothorax, primary |
| mRNA | NM_144997, 186928861 |
| Protein | NP_659434, 22907034 |
| Product | folliculin isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_144606, 186928862 |
| Protein | NP_653207, 21389403 |
| Product | folliculin isoform 2 |
| RefSeq Status | REVIEWED |
| hsa05211 | Renal cell carcinoma |
| Homo sapiens (human) | FLCN | NP_659434.2 |
| Pan troglodytes (chimpanzee) | FLCN | XP_001160873.1 |
| Canis lupus familiaris (dog) | FLCN | XP_536668.2 |
| Bos taurus (cattle) | FLCN | NP_001030440.1 |
| Mus musculus (house mouse) | Flcn | NP_666130.1 |
| Rattus norvegicus (Norway rat) | Flcn | NP_955422.1 |
| Gallus gallus (chicken) | FLCN | XP_414807.2 |
| Danio rerio (zebrafish) | flcn | NP_001035463.1 |
| Drosophila melanogaster (fruit fly) | BHD | NP_648090.1 |
| Caenorhabditis elegans | F22D3.2 | NP_001022107.1 |
| ID | Name | Evidence |
| GO:0001932 | regulation of protein phosphorylation | IDA |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IDA |
| GO:0005737 | cytoplasm | IDA |
| GO:0005886 | plasma membrane | IDA |
Function
| ID | Name | Evidence |
| GO:0005515 | protein binding | IPI |
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