Version: 8.0.0Date: Tue Jan 28 2025
Gene
FAS
- Species
- Homo sapiens
- Symbol
- FAS
- Name
- Fas cell surface death receptor
- Synonyms
- ALPS1A
- APO-1
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including calmodulin binding activity; identical protein binding activity; and tumor necrosis factor receptor activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of metabolic process; and regulation of signal transduction. Acts upstream of or within apoptotic process. Located in several cellular components, including cell surface; membrane raft; and nuclear body. Part of CD95 death-inducing signaling complex. Implicated in several diseases, including autoimmune disease (multiple); cystic fibrosis; hematologic cancer (multiple); pre-eclampsia (multiple); and urinary system cancer (multiple). Biomarker of several diseases, including autoimmune disease (multiple); carcinoma (multiple); eye disease (multiple); hematologic cancer (multiple); and neurodegenerative disease (multiple).
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR46874
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr10:88953813...89029605 + (75.79 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.