Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     Birt-Hogg-Dubé syndrome Several mutations in the FLCN gene have been identified in people with Birt-Hogg-Dubé syndrome, a condition characterized by multiple noncancerous (benign) skin tumors, an increased risk of other tumors, and lung cysts. Most of these mutations insert or delete one or more protein building blocks (amino acids) in the folliculin protein. These mutations lead to the production of an abnormally small, nonfunctional version of this protein. Without folliculin, researchers believe that cells can grow and divide uncontrollably to form cancerous or noncancerous tumors. They have not determined how a loss of folliculin increases the risk of lung abnormalities that are often associated with Birt-Hogg-Dubé syndrome. primary spontaneous pneumothorax At least eight mutations in the FLCN gene have been found to cause primary spontaneous pneumothorax. This condition occurs when air builds up abnormally in the space between the lungs and the chest cavity (plural space), potentially leading to a partial or complete collapse of the lung. Many of these mutations result in the production of a folliculin protein that is abnormally short and nonfunctional. Researchers have not determined how FLCN gene mutations lead to the development of primary spontaneous pneumothorax. One theory is that the altered folliculin protein may trigger inflammation within lung tissue that could lead to the formation of small sacs of air (blebs) in the tissue. These blebs can rupture, causing air to leak into the pleural space. People who have an FLCN gene mutation associated with primary spontaneous pneumothorax all appear to develop blebs, but it is estimated that only 40 percent of those individuals go on to have a primary spontaneous pneumothorax. other cancers Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, called somatic mutations, are not inherited. Somatic mutations in the FLCN gene are probably associated with several types of nonhereditary (sporadic) tumors. Specifically, somatic FLCN mutations have been identified in some cases of clear cell renal cell carcinoma (a type of kidney cancer) and in some colon cancers. These mutations may change the structure of the folliculin protein, disrupting its tumor suppressor function. Researchers do not know how FLCN mutations lead to these particular forms of cancer.

     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.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• p53

Tissue specificity:

Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach.

Developmental stage:

Expressed in fetal lung, kidney, liver, and brain.

Molecular Function:

• Guanyl-Nucleotide Exchange Factor Activity
• Protein Complex Binding

Biological Processes:

• Negative Regulation Of Transcription From Rna Polymerase Ii Promoter
• In Utero Embryonic Development
• Regulation Of Protein Phosphorylation
• Positive Regulation Of Protein Phosphorylation
• Cell-Cell Junction Assembly
• Positive Regulation Of Autophagy
• Negative Regulation Of Gene Expression
• Negative Regulation Of Mitochondrion Organization
• Hemopoiesis
• Negative Regulation Of Cell Growth
• Negative Regulation Of Cell Migration
• Positive Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway
• Tor Signaling
• Regulation Of Tor Signaling
• Negative Regulation Of Tor Signaling
• Positive Regulation Of Tor Signaling
• Regulation Of Cytokinesis
• Negative Regulation Of Rho Protein Signal Transduction
• Regulation Of Histone Acetylation
• Positive Regulation Of Apoptotic Process
• Positive Regulation Of Cell Adhesion
• Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
• Negative Regulation Of Protein Kinase B Signaling
• Negative Regulation Of Erk1 And Erk2 Cascade
• Negative Regulation Of Protein Localization To Nucleus
• Negative Regulation Of Cell Proliferation Involved In Kidney Development
• Negative Regulation Of Energy Homeostasis
• Regulation Of Pro-B Cell Differentiation
• Negative Regulation Of Atp Biosynthetic Process

*synonyms