CASP8AP2
CASP8 Associated Protein 2
Gene Information Card
| Symbol | CASP8AP2 |
|---|---|
| Full Name | CASP8 Associated Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q15 |
| NCBI Gene ID | 9994 ncbi.nlm.nih.gov/gene/9994 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9UKL3 |
| OMIM ID | 606880 |
| HGNC ID | 1510 |
| Aliases | FLASH, CED-3, KIAA1315 |
Description
CASP8AP2 (CASP8 Associated Protein 2) encodes a protein that interacts with caspase-8 and is involved in apoptosis signaling. It also plays a role in chromatin remodeling and transcriptional regulation. The gene is located on chromosome 6q15 and is associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute lymphoblastic leukemia | Altered expression of CASP8AP2 affects apoptosis and drug sensitivity | PMID: 20628055 |
| Colorectal cancer | CASP8AP2 mutations may impair Fas-mediated apoptosis | COSMIC |
| Hepatocellular carcinoma | Downregulation of CASP8AP2 correlates with poor prognosis | PMID: 24141619 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Medium |
| Bone marrow | 6.7 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 10.2 | Leukemia cell line |
| HeLa | 7.8 | Cervical cancer cell line |
| HepG2 | 5.4 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.1% | Unknown significance |
| c.789_790insA | Frameshift | <0.01% | Loss of function |
| p.R456* | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein and loss of apoptotic function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) | • positive regulation of apoptotic process (GO:0043065) |
Pathways
• Fas signaling pathway (CD95)
• Apoptosis - multiple species
• Death receptor signaling
Protein Summary
CASP8AP2 (FLASH) is a 221 kDa nuclear protein that contains a DED (death effector domain) and interacts with caspase-8. It is essential for Fas-mediated apoptosis and also functions in chromatin remodeling via the SRCAP complex. The protein is widely expressed in hematopoietic tissues and is implicated in leukemia and solid tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CASP8AP2 Knockout HEK293 Cell Line | EDJ-KQ12733 | Human | 9994 | Details Get a Quote |
| CASP8AP2 Knockout A-549 Cell Line | EDJ-KQ41833 | Human | 9994 | Details Get a Quote |
| CASP8AP2 Knockout HCT 116 Cell Line | EDJ-KQ41834 | Human | 9994 | Details Get a Quote |
| CASP8AP2 Knockout HeLa Cell Line | EDJ-KQ41835 | Human | 9994 | Details Get a Quote |
