FLCN Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | FLCN |
| Official Name | folliculin [Source:HGNC Symbol;Acc:HGNC:27310] |
| Ensembl ID | ENSG00000154803 |
| Bio databases IDs | |
| Aliases | folliculin |
| Synonyms | B430214A04RIK, BHD, DENND8B, FLCL, folliculin, LOC100129676 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FLCN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Vesicle coat protein involved in Golgi to plasma membrane transport
- binding protein
- enzyme inhibitor activity
- enzyme binding
- GTPase activator
- protein binding
- Folliculin C-terminal domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- prostate cancer
- epithelial cancer
- epithelial neoplasia
- cancer
- hereditary cancer-predisposing syndrome
- Birt-Hogg-Dubé syndrome
- colorectal cancer
- ovarian cancer
- familial spontaneous pneumothorax
role in cell
- production in
- expression in
- function
- apoptosis
- proliferation
- activation in
- glycolysis in
- transcription in
- differentiation
- phosphorylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- cilia
- Nucleus
- Plasma Membrane
- centrosome
- lysosome
- midbody
- intercellular junctions
- cytosol
- primary cilia
- lysosome membrane
- mitotic spindle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FLCN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of Rho protein signal transduction
- hemopoiesis
- cellular response to amino acid starvation
- transforming growth factor beta receptor signaling pathway
- regulation of Ras protein signal transduction
- negative regulation of glycolysis
- intrinsic apoptotic signaling pathway
- negative regulation of transcription from RNA polymerase II promoter
- protein kinase B signaling cascade
- epithelial cell proliferation
- in utero embryonic development
- energy homeostasis
- regulation of pro-B cell differentiation
- negative regulation of TOR signaling cascade
- positive regulation of TOR signaling cascade
- positive regulation of intrinsic apoptotic signaling pathway
- intracellular signal transduction
- regulation of TOR signaling cascade
- cell-cell junction assembly
- TOR signaling cascade
- cellular response to starvation
- ERK1 and ERK2 cascade
- lysosome localization
- positive regulation of autophagy
- negative regulation of ERK1 and ERK2 cascade
- negative regulation of epithelial cell proliferation
- cell proliferation involved in kidney development
- positive regulation of apoptotic process
- positive regulation of transforming growth factor beta receptor signaling pathway
- negative regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- nucleus
- cell-cell contact zone
- centrosome
- mitotic spindle
- cytoplasm
- cilium
- cytosol
- midbody
- plasma membrane
- lysosomal membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- enzyme inhibitor activity
- GTPase activator activity
- enzyme binding