Gene
CASP8
caspase 8
- HGNC 1509(opens in a new tab)
- Ensembl gene ENSG00000064012(opens in a new tab)
- NCBI Gene 841(opens in a new tab)
Summary
- Cytogenetic location
- 2q33.1
- Coordinates
- Chromosome 2: 201,260,536–201,287,709 (GRCh38)
- Exons
- 9 exons across 27.2 kb
- Protein
- 479 amino acids
- Also known as
- MCH5, MACH, FLICE, Casp-8
- MANE Select transcript
- ENST00000673742.1NM_001372051.1
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Autoimmune Disease
A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
Autoimmune Lymphoproliferative Syndrome (ALPS)
- Autoimmune lymphoproliferative syndrome
Chronic lymph node and spleen enlargement, autoimmune cytopenias and raised double-negative T cells caused by changes in FAS, FASLG, CASP10 and related apoptosis genes.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Diagnosis allows sirolimus or other immunosuppression for cytopenias, avoidance of unnecessary splenectomy, lymphoma vigilance and family testing.
Broader groupings
Other Inborn Errors of Immunity
- Inborn error of immunity
One of 114 genes linked to it
Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
How CASP8 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.7 kb of the gene's 27.2 kb; 1,440 of those bases code for the protein.
How a genome test reads CASP8
21
positions in CASP8 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 27.2 kb of CASP8, introns included, not only the 2.7 kb of exons.
Traits linked to CASP8
The Human Phenotype Ontology lists these as features of the rare conditions CASP8 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CASP8 gene: caspase 8. Retrieved 16 October 2026, from https://dantelabs.com/genes/casp8
Dante Labs. CASP8 gene: caspase 8 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/casp8
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