CAPN5 Gene (Calpain 5): Genetics, Function, and Associated Diseases
Comprehensive resource on CAPN5, including genomic information, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | CAPN5 |
|---|---|
| Full Name | Calpain 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q14.2 |
| NCBI Gene ID | 726 ncbi.nlm.nih.gov/gene/726 |
| Ensembl ID | ENSG00000149269 |
| UniProt ID | O15484 |
| OMIM ID | 602537 |
| HGNC ID | 1482 |
| Aliases | Calpain-5, nCL-3, HTRA3 |
Description
CAPN5 encodes calpain 5, a calcium-dependent cysteine protease belonging to the calpain family. Calpains are involved in various cellular processes including signal transduction, cell proliferation, differentiation, and apoptosis. CAPN5 is expressed in multiple tissues, with notable expression in the retina and brain. Mutations in CAPN5 are associated with autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV), a rare inherited eye disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neovascular inflammatory vitreoretinopathy (ADNIV) | Gain-of-function mutations (e.g., p.Arg243Leu) lead to increased calpain activity, causing retinal inflammation and neovascularization. | ClinVar, OMIM |
| Retinitis pigmentosa (possible) | Altered calpain activity may contribute to photoreceptor degeneration, but evidence is limited. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High | High |
| Brain | Medium | Medium |
| Testis | Medium | Medium |
| Kidney | Low | Low |
| Liver | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Medium | Used in functional studies |
| HeLa | Low | Low expression |
| SH-SY5Y | Medium | Neuronal cell line |
| ARPE-19 | High | Retinal pigment epithelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg243Leu | Missense | Rare | Gain-of-function; associated with ADNIV |
| p.Arg289Trp | Missense | Rare | Likely pathogenic; gain-of-function |
| p.Leu290Pro | Missense | Rare | Uncertain significance |
| p.Gly291Ser | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; no clear loss-of-function mutations reported.
Gain of Function (GOF)
Mutations such as p.Arg243Leu increase calpain activity, leading to ADNIV.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent cysteine-type endopeptidase activity | • proteolysis |
| • calcium ion binding | • cytosol |
| • cytoplasm |
Pathways
• Calpain signaling pathway
• Apoptosis
• Inflammation
Protein Summary
Calpain 5 is a 640-amino acid protein with a typical calpain domain structure including a protease core and calmodulin-like domain. It is activated by calcium and cleaves various substrates involved in cytoskeletal remodeling and signal transduction. In the retina, CAPN5 is implicated in inflammatory responses and vascular homeostasis. Dysregulation due to mutations leads to chronic inflammation and neovascularization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAPN5 Knockout HEK293 Cell Line | EDJ-KQ4164 | Human | 726 | Details Get a Quote |
| CAPN5 Knockout HCT 116 Cell Line | EDJ-KQ25278 | Human | 726 | Details Get a Quote |
| CAPN5 Knockout A-549 Cell Line | EDJ-KQ26608 | Human | 726 | Details Get a Quote |
| CAPN5 Knockout HeLa Cell Line | EDJ-KQ52748 | Human | 726 | Details Get a Quote |
