Folliculin

FLCN
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3V42
Identifiers
Aliases	FLCN, BHD, FLCL, Folliculin, DENND8B
External IDs	OMIM: 607273; MGI: 2442184; HomoloGene: 14583; GeneCards: FLCN; OMA:FLCN - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	17,237,188 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	59,700,842 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; right hemisphere of cerebellum; ; apex of heart; ; canal of the cervix; ; gastric mucosa; ; body of uterus; ; left ovary; ; muscle layer of sigmoid colon; ; right ovary; ; oocyte;
	Top expressed in
	submandibular gland; ; pineal gland; ; gastrula; ; iris; ; masseter muscle; ; Rostral migratory stream; ; neural layer of retina; ; left lung lobe; ; ciliary body; ; retinal pigment epithelium;
	More reference expression data
	n/a
Gene ontology
Molecular function	guanyl-nucleotide exchange factor activity; protein binding; protein-containing complex binding;
Cellular component	cytoplasm; cell-cell contact zone; plasma membrane; midbody; lysosome; nucleus; cytosol; cilium;
Biological process	regulation of protein phosphorylation; negative regulation of protein localization to nucleus; regulation of cytokinesis; positive regulation of autophagy; negative regulation of Rho protein signal transduction; negative regulation of cell migration; TOR signaling; negative regulation of cell growth; positive regulation of apoptotic process; positive regulation of cell adhesion; positive regulation of transcription by RNA polymerase II; negative regulation of transcription by RNA polymerase II; in utero embryonic development; positive regulation of protein phosphorylation; cell-cell junction assembly; negative regulation of gene expression; negative regulation of mitochondrion organization; positive regulation of transforming growth factor beta receptor signaling pathway; regulation of TOR signaling; negative regulation of TOR signaling; positive regulation of TOR signaling; regulation of histone acetylation; negative regulation of protein kinase B signaling; negative regulation of ERK1 and ERK2 cascade; negative regulation of cell proliferation involved in kidney development; regulation of pro-B cell differentiation; negative regulation of ATP biosynthetic process; hemopoiesis; energy homeostasis; mitochondrion organization; negative regulation of transcription, DNA-templated; negative regulation of cold-induced thermogenesis; negative regulation of cellular respiration; negative regulation of mitochondrial DNA metabolic process; negative regulation of muscle tissue development; negative regulation of post-translational protein modification; positive regulation of intrinsic apoptotic signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	201163
	216805
	ENSG00000154803
	ENSMUSG00000032633
	Q8NFG4
	Q8QZS3
	NM_144606; NM_144997; NM_001353229; NM_001353230; NM_001353231
	NM_001271356; NM_001271357; NM_146018
	NP_653207; NP_659434; NP_001340158; NP_001340159; NP_001340160
	NP_001258285; NP_001258286; NP_666130
	Wikidata
View/Edit Human	View/Edit Mouse

The tumor suppressor gene FLCN encodes the protein folliculin, also known as Birt–Hogg–Dubé syndrome protein, which functions as an inhibitor of Lactate Dehydrogenase-A and a regulator of the Warburg effect. Folliculin (FLCN) is also associated with Birt–Hogg–Dubé syndrome, which is an autosomal dominant inherited cancer syndrome in which affected individuals are at risk for the development of benign cutaneous tumors (folliculomas), pulmonary cysts (often associated with pneumothorax), and kidney tumors.