Version: 8.0.0Date: Tue Jan 28 2025
Gene
CASP8
- Species
- Homo sapiens
- Symbol
- CASP8
- Name
- caspase 8
- Synonyms
- ALPS2B
- apoptotic cysteine protease
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including death effector domain binding activity; scaffold protein binding activity; and ubiquitin protein ligase binding activity. Involved in several processes, including cellular response to mechanical stimulus; proteolysis; and regulation of canonical NF-kappaB signal transduction. Located in cytosol; lamellipodium; and nucleoplasm. Part of CD95 death-inducing signaling complex and ripoptosome. Is active in cytoplasm. Implicated in several diseases, including autoimmune lymphoproliferative syndrome type 2B; breast cancer; endocrine gland cancer (multiple); esophagus adenocarcinoma; and lung cancer. Biomarker of Alzheimer's disease; Huntington's disease; autoimmune disease; and esophagus squamous cell carcinoma.
- RGD Description
- This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR48169
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
- Chr2:201233443...201361836 + (128.39 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.