CAPN7: Calpain 7
A non-lysosomal cysteine protease involved in cytoskeletal remodeling and endosomal trafficking
Gene Information Card
| Symbol | CAPN7 |
|---|---|
| Full Name | calpain 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p25.1 |
| NCBI Gene ID | 23473 ncbi.nlm.nih.gov/gene/23473 |
| Ensembl ID | ENSG00000163636 |
| UniProt ID | Q9Y6W3 |
| OMIM ID | 606401 |
| HGNC ID | 1480 |
| Aliases | calpain-7, PalBH, nCL-4 |
Description
CAPN7 encodes calpain 7, a non-lysosomal cysteine protease belonging to the calpain family. It contains a calpain catalytic domain and a C-terminal domain with a putative calcium-binding region. CAPN7 is involved in cytoskeletal remodeling, endosomal trafficking, and regulation of cell adhesion. It is ubiquitously expressed with highest levels in testis, heart, and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, colorectal) | Altered CAPN7 expression may affect cell migration and invasion via cytoskeletal regulation. | PubMed: 25605274, 29187737 |
| Neurodegenerative disorders | Potential role in tau cleavage and aggregation; CAPN7 can cleave tau in vitro. | PubMed: 17920015 |
| Endosomal trafficking defects | CAPN7 interacts with ESCRT machinery; loss of function may impair multivesicular body formation. | PubMed: 22467856 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Heart | 9.8 | Medium |
| Skeletal Muscle | 8.4 | Medium |
| Brain | 5.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.3 | Embryonic kidney cells |
| HeLa | 6.1 | Cervical carcinoma cells |
| MCF7 | 5.8 | Breast cancer cells |
| SH-SY5Y | 4.9 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | 0.0001 | Unknown functional effect; reported in dbSNP |
| c.1678C>T (p.Arg560Cys) | Missense | 0.0002 | Potential loss of catalytic activity; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain may reduce protease activity, impairing endosomal trafficking.
Gain of Function (GOF)
Not reported for CAPN7.
Dominant Negative (DN)
Not reported for CAPN7.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ESCRT-mediated multivesicular body sorting (Reactome: R-HSA-917729)
• Calpain-mediated proteolysis of cytoskeletal proteins (KEGG: hsa04141)
Protein Summary
Calpain 7 is a 813-amino acid cysteine protease with a calpain catalytic domain (CysPc) and a C-terminal domain. It is activated by calcium and localizes to endosomes and the cytosol. CAPN7 cleaves cytoskeletal proteins (e.g., talin, vinculin) and participates in ESCRT-dependent endosomal sorting. Its expression is highest in testis, heart, and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAPN7 Knockout HEK293 Cell Line | EDJ-KQ8022 | Human | 23473 | Details Get a Quote |
| CAPN7 Knockout A-549 Cell Line | EDJ-KQ32458 | Human | 23473 | Details Get a Quote |
| CAPN7 Knockout HCT 116 Cell Line | EDJ-KQ33798 | Human | 23473 | Details Get a Quote |
| CAPN7 Knockout HeLa Cell Line | EDJ-KQ33799 | Human | 23473 | Details Get a Quote |
