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FLCN folliculin [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_144606 Homo sapiens folliculin (FLCN), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10
NM_144997 Homo sapiens folliculin (FLCN), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005256515 PREDICTED: Homo sapiens folliculin (FLCN), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006721470 PREDICTED: Homo sapiens folliculin (FLCN), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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Related Services

Gene Symbol FLCN
Entrez Gene ID 201163
Full Name folliculin
Synonyms BHD, FLCL
General protein information
Preferred Names
folliculin
Names
folliculin
birt-Hogg-Dube syndrome protein
BHD skin lesion fibrofolliculoma protein
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, Jul 2008].
Disorder

MIM: 607273

Birt-Hogg-Dube syndrome, 135150 (3); Pneumothorax, primary

mRNA Protein Product Sequence Price Select
NM_144606, 186928862 NP_653207, 21389403 folliculin isoform 2 ORF Sequence $269.00
NM_144997, 186928861 NP_659434, 22907034 folliculin isoform 1 ORF Sequence $700.00
XM_005256515, 530410049 XP_005256572, 530410050 folliculin isoform X2 ORF Sequence $700.00
XM_006721470, 578829760 XP_006721533, 578829761 folliculin isoform X3 ORF Sequence $400.00
KEGG
hsa05211Renal cell carcinoma
Homo sapiens (human)FLCNNP_659434.2
Pan troglodytes (chimpanzee)FLCNXP_001161086.1
Macaca mulatta (Rhesus monkey)FLCNXP_001088928.1
Canis lupus familiaris (dog)FLCNNP_001121083.1
Bos taurus (cattle)FLCNNP_001030440.1
Mus musculus (house mouse)FlcnNP_001258285.1
Rattus norvegicus (Norway rat)FlcnNP_955422.1
Gallus gallus (chicken)FLCNXP_414807.2
Danio rerio (zebrafish)flcnNP_001035463.1
Drosophila melanogaster (fruit fly)BHDNP_648090.1
Caenorhabditis elegansF22D3.2NP_001022107.2
Xenopus (Silurana) tropicalis (western clawed frog)flcnNP_001011353.1
Process
IDNameEvidence
GO:0000122negative regulation of transcription from RNA polymerase II promoterIDA
GO:0000122negative regulation of transcription from RNA polymerase II promoterIMP
GO:0001701in utero embryonic developmentISS
GO:0001932regulation of protein phosphorylationIDA
GO:0001934positive regulation of protein phosphorylationISS
GO:0007043cell-cell junction assemblyISS
GO:0010628positive regulation of gene expressionISS
GO:0010629negative regulation of gene expressionISS
GO:0010823negative regulation of mitochondrion organizationISS
GO:0030097hemopoiesisISS
GO:0030308negative regulation of cell growthIDA
GO:0030336negative regulation of cell migrationIMP
GO:0030511positive regulation of transforming growth factor beta receptor signaling pathwayIDA
GO:0030511positive regulation of transforming growth factor beta receptor signaling pathwayISS
GO:0031929TOR signalingIMP
GO:0032006regulation of TOR signalingISS
GO:0032007negative regulation of TOR signalingISS
GO:0032008positive regulation of TOR signalingISS
GO:0032465regulation of cytokinesisIMP
GO:0035024negative regulation of Rho protein signal transductionIMP
GO:0035065regulation of histone acetylationISS
GO:0043065positive regulation of apoptotic processISS
GO:0045785positive regulation of cell adhesionIMP
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIMP
GO:0051898negative regulation of protein kinase B signalingISS
GO:0070373negative regulation of ERK1 and ERK2 cascadeISS
GO:1900181negative regulation of protein localization to nucleusIDA
GO:1901723negative regulation of cell proliferation involved in kidney developmentISS
GO:2000506negative regulation of energy homeostasisISS
GO:2000973regulation of pro-B cell differentiationISS
GO:2001170negative regulation of ATP biosynthetic processISS
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005737cytoplasmIDA
GO:0005886plasma membraneIDA
GO:0030496midbodyIDA
GO:0044291cell-cell contact zoneIDA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0032403protein complex bindingIDA
GeneCards FLCN
UniProt Q8NFG4
Vega OTTHUMG00000059275
MIM 607273
Ensembl ENSG00000154803
HGNC 27310
HPRD 06278

What is the normal function of the FLCN gene?

The FLCN gene provides instructions for making a protein called folliculin. Researchers have not determined the protein's function, but they believe it may act as a tumor suppressor. Tumor suppressors help control the growth and division of cells.

The folliculin protein is present in many of the body's tissues, including the brain, heart, placenta, testis, skin, lung, and kidney. Researchers have proposed several possible roles for the protein within cells. Folliculin may be important for cells' uptake of foreign particles (endocytosis or phagocytosis). The protein may also play a role in the structural framework that helps to define the shape, size, and movement of a cell (the cytoskeleton) and in interactions between cells. In the lung, it is thought that folliculin plays a role in repairing and re-forming lung tissue following damage.

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