CASP7 (Caspase 7) Gene
Key effector caspase in apoptosis and inflammation
Gene Information Card
| Symbol | CASP7 |
|---|---|
| Full Name | caspase 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 840 ncbi.nlm.nih.gov/gene/840 |
| Ensembl ID | ENSG00000165806 |
| UniProt ID | P55210 |
| OMIM ID | 601761 |
| HGNC ID | 1508 |
| Aliases | CMH-1, ICE-LAP3, MCH3 |
Description
CASP7 (caspase 7) is a member of the cysteine-aspartic acid protease (caspase) family. It functions as an effector caspase, executing the apoptotic program by cleaving key cellular substrates. CASP7 is activated by initiator caspases (e.g., caspase 8, caspase 9) and plays a role in both intrinsic and extrinsic apoptosis pathways. It also participates in inflammation and cell survival regulation. Dysregulation of CASP7 is implicated in cancer, neurodegenerative disorders, and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Reduced CASP7 expression or loss-of-function mutations impair apoptosis, promoting tumorigenesis. | PMID: 15604238, COSMIC |
| Breast Cancer | CASP7 polymorphisms and altered expression linked to poor prognosis and chemoresistance. | PMID: 19584283, ClinVar |
| Alzheimer's Disease | CASP7-mediated cleavage of tau and amyloid precursor protein contributes to neurodegeneration. | PMID: 15339663, NCBI |
| Non-Small Cell Lung Cancer | CASP7 downregulation associated with resistance to apoptosis and disease progression. | PMID: 21159625, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 28.5 | High |
| Spleen | 25.3 | High |
| Bone marrow | 22.1 | High |
| Lung | 12.4 | Medium |
| Colon | 10.8 | Medium |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.7 | Cervical cancer cell line |
| A549 | 15.3 | Lung adenocarcinoma |
| MCF7 | 12.1 | Breast cancer (low CASP7 due to deletion) |
| K562 | 20.4 | Chronic myeloid leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.766G>A (p.Gly256Arg) | Missense | 0.02% (gnomAD) | Reduced catalytic activity; associated with cancer risk |
| c.1079C>T (p.Pro360Leu) | Missense | 0.01% (gnomAD) | Impaired substrate cleavage; reported in colorectal cancer |
| c.1135_1136insA (p.Gln379Glufs*2) | Frameshift | Rare | Loss of function; found in breast cancer (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish caspase 7 proteolytic activity, impairing apoptosis and promoting cancer.
Gain of Function (GOF)
Not well documented; no common gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations (e.g., p.Gly256Arg) may act as dominant-negative by forming inactive heterodimers with wild-type caspase 7.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006508 - proteolysis | • GO:0006915 - apoptotic process |
| • GO:0097190 - apoptotic signaling pathway | • GO:0004197 - cysteine-type endopeptidase activity |
| • GO:0043065 - positive regulation of apoptotic process | • GO:0005634 - nucleus |
Pathways
• Apoptosis (KEGG hsa04210)
• p53 signaling pathway (KEGG hsa04115)
• Extrinsic apoptotic signaling pathway (Reactome R-HSA-109581)
• Intrinsic apoptotic signaling pathway (Reactome R-HSA-109606)
Protein Summary
Caspase 7 (UniProt P55210) is a 303-amino acid protein composed of a prodomain, a large subunit (p20), and a small subunit (p10). It is synthesized as a zymogen and activated by proteolytic cleavage at specific aspartate residues. The active enzyme is a heterotetramer of two large and two small subunits. Caspase 7 cleaves substrates such as PARP1, lamin A, and DFFA, leading to DNA fragmentation and cell disassembly during apoptosis. It is widely expressed in immune tissues and is critical for maintaining tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CASP7 Knockout HEK293 Cell Line | EDJ-KQ1477 | Human | 840 | Details Get a Quote |
| CASP7 Knockout A-549 Cell Line | EDJ-KQ21057 | Human | 840 | Details Get a Quote |
| CASP7 Knockout HCT 116 Cell Line | EDJ-KQ21058 | Human | 840 | Details Get a Quote |
| CASP7 Knockout HeLa Cell Line | EDJ-KQ21059 | Human | 840 | Details Get a Quote |
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