FAS | SelfDecode | Genome Analysis

Summary of FAS

This gene encodes a protein that helps with cell signaling. Mutations can cause cancer (R).

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The Function of FAS

Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).

Protein names

Recommended name:

Tumor necrosis factor receptor superfamily member 6

Alternative name(s):

Apo-1 antigen
Apoptosis-mediating surface antigen FAS
FASLG receptor
CD antigen CD95

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RS1800682 (FAS) ??
RS2234978 (FAS) ??
RS2296603 (FAS) ??
RS4406737 (FAS) ??
RS7920888 (FAS) ??

Top Gene-Substance Interactions

FAS Interacts with These Diseases

Disease	Score

Substances That Increase FAS

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Substances	Interaction	Organism	Category

Substances That Decrease FAS

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Substances	Interaction	Organism	Category

Advanced Summary

autoimmune lymphoproliferative syndrome More than 100 mutations in the FAS gene have been identified in people with a disorder of the immune system called autoimmune lymphoproliferative syndrome (ALPS). ALPS is characterized by the production of an abnormally large number of immune system cells (lymphocytes), resulting in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly). Autoimmune disorders, in which the immune system malfunctions and attacks the body's own tissues and organs, are also common in ALPS. People with ALPS have an increased risk of developing cancer of the immune system cells (lymphoma) and may also be at increased risk of developing other cancers. When the immune system is activated to fight an infection, large numbers of lymphocytes are produced. Normally, these lymphocytes undergo apoptosis when they are no longer required. FAS gene mutations result in an abnormal trimer that interferes with the initiation of apoptosis. Excess lymphocytes accumulate in the body's tissues and organs and often begin attacking them, leading to autoimmune disorders. Interference with apoptosis allows cells to multiply without control, leading to the lymphomas and other cancers that occur in people with this disorder. cancers Studies have associated certain FAS gene variations with increased risk of developing cancer, including cancers of the lung, breast, and esophagus. Researchers believe that these variations may affect the signaling that initiates apoptosis, increasing the risk that cells will multiply out of control and result in cancer.

The FAS gene provides instructions for making a protein that is involved in signaling. Three FAS proteins group together to form a structure called a trimer, which then interacts with other molecules to perform its signaling function. This signaling initiates a process called a caspase cascade. The caspase cascade is a series of steps that results in the self-destruction of cells (apoptosis) when they are not needed.

Conditions with Increased Gene Activity

Experimental Variables:

Condition	Change (log₂fold)	Comparison	Species	Experimental variables	Experiment name

Conditions with Decreased Gene Activity

Experimental Variables:

Condition	Change (log₂fold)	Comparison	Species	Experimental variables	Experiment name

Technical

The following transcription factors affect gene expression:

Tissue specificity:

Isoform 1 and isoform 6 are expressed at equal levels in resting peripheral blood mononuclear cells. After activation there is an increase in isoform 1 and decrease in the levels of isoform 6.

Gene Pathways:

Molecular Function:

Biological Processes:

*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

FAS (Fas cell surface death receptor)

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