CASP8AP2

Chr 6

caspase 8 associated protein 2

Also known as: CED-4, FLASH, RIP25

NCBI Gene: 9994ENSG00000118412UniProt: Q9UKL3

This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008]

295
ClinVar variants
13
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CASP8AP2
📋
ClinVar Variants
13 Pathogenic / Likely Pathogenic· 263 VUS of 295 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

295 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13
VUS263
Likely Benign19
13
Pathogenic
263
VUS
19
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
13
0
13
Likely Pathogenic
0
0
0
0
0
VUS
0
250
13
0
263
Likely Benign
0
18
1
0
19
Benign
0
0
0
0
0
Total0268270295

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CASP8AP2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Genomic imbalance analysis provides new insight into prognostic factors in adult and pediatric T-ALL.
Balducci E et al.·Blood
2024Clinical trial
[Research Progress on Expression Regulation, Function and Clinical Significance of CASP8AP2 Gene].
Li ZG et al.·Zhongguo Shi Yan Xue Ye Xue Za Zhi
2015
CRISPRi screening identifies CASP8AP2 as an essential viability factor in lung cancer controlling tumor cell death via the AP-1 pathway.
Myacheva K et al.·Cancer Lett
2023
Expression and prognostic significance of the apoptotic genes BCL2L13, Livin, and CASP8AP2 in childhood acute lymphoblastic leukemia.
Yang YL et al.·Leuk Res
2010
CASP8AP2 is a promising prognostic indicator in pediatric acute lymphoblastic leukemia.
Jiao Y et al.·Leuk Res
2012
[Clinical significance of CASP8AP2 gene methylation in childhood acute lymphoblastic leukemia].
Liu FF et al.·Zhongguo Shi Yan Xue Ye Xue Za Zhi
2015
Prognostic utility of key copy number alterations in T cell acute lymphoblastic leukemia.
Kumari S et al.·Hematol Oncol
2022
High-resolution genomic profiling of childhood T-ALL reveals frequent copy-number alterations affecting the TGF-beta and PI3K-AKT pathways and deletions at 6q15-16.1 as a genomic marker for unfavorable early treatment response.
Remke M et al.·Blood
2009
MAP3K7 is recurrently deleted in pediatric T-lymphoblastic leukemia and affects cell proliferation independently of NF-κB.
Cordas Dos Santos DM et al.·BMC Cancer
2018Clinical trial
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools