Gene: FAS

Alternate names for this Gene: ALPS1A|APO-1|APT1|CD95|FAS1|FASTM|TNFRSF6

Gene Summary: The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform.

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.31

Description of this Gene: Fas cell surface death receptor

Type of Gene: protein-coding

rs121913076 in FAS gene and Autoimmune Lymphoproliferative Syndrome PMID 8929361 1996 Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.

PMID 10090885 1999 Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

PMID 10515860 1999 Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations.

PMID 11418480 2001 The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.

PMID 9028957 1997 Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.

PMID 9821419 1998 The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.

PMID 20935634 2010 The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations.

PMID 17336828 2007 Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation.

PMID 9028321 1997 Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.

PMID 10340403 1999 Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease.

PMID 7540117 1995 Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.

PMID 9322534 1997 Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis.

PMID 9927496 1999 The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.

rs7911226 in FAS gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs2147420 in FAS gene and Chronic Lymphocytic Leukemia PMID 23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.

PMID 26956414 2016 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.

rs7069750 in FAS gene and Juvenile pauciarticular chronic arthritis PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs7069750 in FAS gene and Juvenile-Onset Still Disease PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs9658736 in FAS gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1554852244 in FAS gene and Muscle hypotonia PMID 21490157 2011 FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

PMID 21885602 2011 A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.

PMID 20360470 2010 Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.

PMID 25086580 2014 Autoimmune lymphoproliferative syndrome: an update and review of the literature.

PMID 9028321 1997 Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.

PMID 7539157 1995 Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.

PMID 27060458 2016 Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS).

PMID 24398331 2014 Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.

PMID 10709732 2000 Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?

rs7069750 in FAS gene and Oligoarticular Juvenile Idiopathic Arthritis PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs7069750 in FAS gene and Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs121913080 in FAS gene and RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER PMID 9927496 1999 The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.

PMID 10090885 1999 Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

PMID 21490157 2011 FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

PMID 22237435 2012 Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.

PMID 10875918 2000 Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.

PMID 15459303 2004 Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.

PMID 23407489 2013 Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing?

rs7069750 in FAS gene and Rheumatoid Arthritis, Systemic Juvenile PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs9658736 in FAS gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs4406737 in FAS gene and Small Lymphocytic Lymphoma PMID 26956414 2016 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.

PMID 23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.

rs7069750 in FAS gene and Systemic onset juvenile chronic arthritis PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

rs9658736 in FAS gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.