CAPNS2: Calpain Small Subunit 2
A regulatory subunit of the calpain protease system involved in calcium-dependent signaling and cellular processes.
Gene Information Card
| Symbol | CAPNS2 |
|---|---|
| Full Name | calpain small subunit 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q12.2 |
| NCBI Gene ID | 84290 ncbi.nlm.nih.gov/gene/84290 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q96L46 |
| OMIM ID | 608293 |
| HGNC ID | 24302 |
| Aliases | CAPN4, CAPNS2, calpain small subunit 2 |
Description
CAPNS2 encodes the small regulatory subunit 2 of calpain, a calcium-dependent cysteine protease. The small subunit is essential for calpain activity and stability, regulating calcium sensitivity and substrate specificity. CAPNS2 is expressed in various tissues and is involved in cell motility, apoptosis, and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Liver | 2.1 | Low |
| Kidney | 4.5 | Low |
| Testis | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.9 | RNA expression data from GTEx |
| K562 | 3.2 | RNA expression data from GTEx |
| HeLa | 5.5 | RNA expression data from GTEx |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported mutations | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent cysteine-type endopeptidase activity (GO:0004198) | • calcium ion binding (GO:0005509) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
| • proteolysis (GO:0006508) |
Pathways
• Calpain proteolytic pathway (Reactome: R-HSA-5625740)
Protein Summary
CAPNS2 encodes a 268-amino acid protein (UniProt Q96L46) that forms heterodimers with calpain large subunits (e.g., CAPN1, CAPN2). The small subunit contains a calpain small subunit domain and a penta-EF-hand domain, mediating calcium binding and dimerization. It is ubiquitously expressed but at low levels in most tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAPNS2 Knockout HEK293 Cell Line | EDJ-KQ10057 | Human | 84290 | Details Get a Quote |
| CAPNS2 Knockout HeLa Cell Line | EDJ-KQ57572 | Human | 84290 | Details Get a Quote |
| CAPNS2 Knockout A-549 Cell Line | EDJ-KQ66068 | Human | 84290 | Details Get a Quote |
| CAPNS2 Knockout HCT 116 Cell Line | EDJ-KQ74490 | Human | 84290 | Details Get a Quote |
