CASP2 (Caspase 2) Gene
Key regulator of apoptosis, DNA damage response, and tumor suppression
Gene Information Card
| Symbol | CASP2 |
|---|---|
| Full Name | caspase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 835 ncbi.nlm.nih.gov/gene/835 |
| Ensembl ID | ENSG00000106144 |
| UniProt ID | P42575 |
| OMIM ID | 600639 |
| HGNC ID | 1503 |
| Aliases | ICH-1, NEDD2, CASP-2, ICH1L |
Description
CASP2 (caspase 2) is a member of the cysteine-aspartic acid protease (caspase) family. It plays a central role in the execution phase of apoptosis, particularly in response to DNA damage and cellular stress. Caspase 2 can act as both an initiator and an effector caspase, and it is implicated in tumor suppression, aging, and neurodegeneration. The gene is located on chromosome 7q34 and encodes a protein of 452 amino acids.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Loss of CASP2 expression reduces apoptosis, promoting tumorigenesis | PMID: 19029981; COSMIC |
| Breast Cancer | CASP2 mutations and reduced expression linked to poor prognosis | PMID: 23382219; ClinVar |
| Neuroblastoma | CASP2 (NEDD2) downregulation associated with aggressive disease | PMID: 10402475; NCBI Gene |
| Alzheimer Disease | Caspase 2 cleavage of tau and amyloid precursor protein contributes to pathology | PMID: 24746669; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Spleen | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 8.5 | Embryonic kidney |
| MCF7 | 6.8 | Breast cancer |
| A549 | 7.2 | Lung cancer |
| K562 | 5.9 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.1123G>A (p.Gly375Arg) | Missense | <0.1% | Unknown significance |
| c.1366C>T (p.Arg456Cys) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg349*) lead to truncated, non-functional caspase 2, impairing apoptosis and promoting cancer.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CASP2.
Dominant Negative (DN)
Some missense variants may act as dominant-negative by forming inactive heterodimers, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Apoptosis (KEGG hsa04210)
• p53 signaling pathway (KEGG hsa04115)
• DNA damage response (Reactome R-HSA-73894)
Protein Summary
Caspase 2 is a 452-amino acid protein (UniProt P42575) composed of a prodomain, a large catalytic subunit (p18), and a small catalytic subunit (p12). It is synthesized as a zymogen and activated by dimerization and cleavage. Caspase 2 localizes to the nucleus and cytosol, and it is involved in both intrinsic and extrinsic apoptosis pathways. Its activity is regulated by PIDDosome complex formation (PIDD1, CRADD).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CASP2 Knockout HEK293 Cell Line | EDJ-KQ4194 | Human | 835 | Details Get a Quote |
| CASP2 Knockout A-549 Cell Line | EDJ-KQ26651 | Human | 835 | Details Get a Quote |
| CASP2 Knockout HCT 116 Cell Line | EDJ-KQ26652 | Human | 835 | Details Get a Quote |
| CASP2 Knockout HeLa Cell Line | EDJ-KQ26653 | Human | 835 | Details Get a Quote |
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