CAPN6: Calpain 6 Gene
A non-proteolytic calpain implicated in cytoskeletal regulation, cell motility, and tumorigenesis
Gene Information Card
| Symbol | CAPN6 |
|---|---|
| Full Name | Calpain 6 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq23 |
| NCBI Gene ID | 827 ncbi.nlm.nih.gov/gene/827 |
| Ensembl ID | ENSG00000177238 |
| UniProt ID | Q9Y6Q1 |
| OMIM ID | 300560 |
| HGNC ID | 1483 |
| Aliases | Calpamodulin, CANPX, CAPNX, calpain-6 |
Description
CAPN6 encodes calpain 6, a member of the calpain family of calcium-dependent cysteine proteases. Unlike most calpains, CAPN6 lacks proteolytic activity due to critical substitutions in the catalytic triad. It functions as a cytoskeletal regulator, modulating microtubule dynamics and cell migration. CAPN6 is predominantly expressed in the placenta and is also found in various cancers, where it influences tumor progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | CAPN6 overexpression promotes cell migration and invasion via cytoskeletal remodeling and EMT induction. | NCBI Gene, COSMIC |
| Placental development disorders | CAPN6 is essential for trophoblast differentiation and placental vascularization; dysregulation linked to preeclampsia. | NCBI Gene, UniProt |
| Ovarian cancer | High CAPN6 expression correlates with poor prognosis and increased metastatic potential. | COSMIC, ClinVar |
| Breast cancer | CAPN6 upregulation associated with aggressive subtypes and tamoxifen resistance. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 45.2 | High |
| Testis | 8.1 | Medium |
| Lung | 3.5 | Low |
| Ovary | 2.9 | Low |
| Breast | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| MCF7 | 9.7 | Breast cancer cell line |
| A549 | 6.3 | Lung cancer cell line |
| OVCAR3 | 15.1 | Ovarian cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Unknown; predicted benign |
| c.454C>T (p.Arg152Trp) | Missense | <0.01% | Unknown; predicted damaging |
| c.789_790insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, likely leading to loss of cytoskeletal regulatory function.
Gain of Function (GOF)
Not well characterized; overexpression in cancer suggests potential gain-of-function via increased cell motility.
Dominant Negative (DN)
No evidence for dominant-negative effects currently reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calpain signaling pathway
• Cytoskeletal regulation by Rho GTPase
• Epithelial-to-mesenchymal transition (EMT)
Protein Summary
Calpain 6 (CAPN6) is a 703-amino acid protein with a calpain catalytic domain but lacking proteolytic activity due to substitutions in the active site (Cys105Ser, His262Ala, Asn286Ala). It contains a calmodulin-like domain and a microtubule-binding region. CAPN6 localizes to the cytoplasm and cytoskeleton, where it stabilizes microtubules and promotes cell migration. It is highly expressed in placenta and upregulated in several cancers, contributing to invasion and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAPN6 Knockout HEK293 Cell Line | EDJ-KQ4191 | Human | 827 | Details Get a Quote |
| CAPN6 Knockout HeLa Cell Line | EDJ-KQ52787 | Human | 827 | Details Get a Quote |
| CAPN6 Knockout A-549 Cell Line | EDJ-KQ61256 | Human | 827 | Details Get a Quote |
| CAPN6 Knockout HCT 116 Cell Line | EDJ-KQ69752 | Human | 827 | Details Get a Quote |
