FAS Fas cell surface death receptor
Gene ID: 355, updated on 1-Jul-2024Gene type: protein coding
Also known as: APT1; CD95; FAS1; APO-1; FASTM; ALPS1A; TNFRSF6
- See all available tests in GTR for this gene
- Go to complete Gene record for FAS
- Go to Variation Viewer for FAS variants
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. [provided by RefSeq, Mar 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. GeneReviews: Not available | |
| Autoimmune lymphoproliferative syndrome type 1 | See labs |
| Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-02-08) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2022-02-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 10q23.31
- Sequence:
- Chromosome: 10; NC_000010.11 (88964050..89017059)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FAS variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Autoimmune Lymphoproliferative Syndrome Database (ALPSbase)
- CCHMC - Human Genetics Mutation Database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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