CAPN13: Calpain 13 Gene
A member of the calpain family of calcium-dependent cysteine proteases, implicated in cellular processes and disease.
Gene Information Card
| Symbol | CAPN13 |
|---|---|
| Full Name | calpain 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 92291 ncbi.nlm.nih.gov/gene/92291 |
| Ensembl ID | ENSG00000162949 |
| UniProt ID | Q6MZZ7 |
| OMIM ID | 610279 |
| HGNC ID | 14807 |
| Aliases | CANP13, calpain-13 |
Description
CAPN13 (calpain 13) is a protein-coding gene that belongs to the calpain family of calcium-dependent cysteine proteases. Calpains are involved in various cellular processes including cell motility, cell cycle progression, and signal transduction. CAPN13 is expressed in multiple tissues and has been implicated in cancer and other diseases through its role in proteolytic regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect cell adhesion and migration via proteolysis of substrates | COSMIC, ClinVar |
| Ovarian cancer | Overexpression and copy number alterations observed; potential role in tumor progression | COSMIC |
| Breast cancer | Mutations and expression changes reported; may influence invasion and metastasis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.6 | Low |
| Thyroid | 4.2 | Low |
| Adipose tissue | 3.8 | Low |
| Brain | 2.1 | Not detected |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.5 | Low expression |
| HeLa | 2.8 | Low expression |
| MCF7 | 4.1 | Low expression |
| A549 | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | Missense | <0.01% | Unknown functional effect |
| c.1573C>T (p.Arg525Trp) | Missense | <0.01% | Unknown functional effect |
| c.1822_1823insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1822_1823insA) are predicted to cause premature truncation and loss of proteolytic activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CAPN13.
Dominant Negative (DN)
No dominant-negative mutations have been described for CAPN13.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent cysteine-type endopeptidase activity | • proteolysis |
| • calcium ion binding | • cytoplasm |
| • cytosol |
Pathways
• Calpain signaling pathway
• Apoptosis
• Cell adhesion
Protein Summary
Calpain-13 is a calcium-dependent cysteine protease composed of a catalytic domain and a calmodulin-like domain. It is involved in limited proteolysis of substrates regulating cell adhesion, migration, and survival. The protein is expressed at low levels in various tissues and may play a role in cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAPN13 Knockout HEK293 Cell Line | EDJ-KQ10145 | Human | 92291 | Details Get a Quote |
| CAPN13 Knockout HeLa Cell Line | EDJ-KQ57833 | Human | 92291 | Details Get a Quote |
| CAPN13 Knockout A-549 Cell Line | EDJ-KQ66331 | Human | 92291 | Details Get a Quote |
| CAPN13 Knockout HCT 116 Cell Line | EDJ-KQ74756 | Human | 92291 | Details Get a Quote |
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