CAPN11 Gene - Calpain 11
A calcium-dependent cysteine protease involved in spermatogenesis and potential cancer biology
Gene Information Card
| Symbol | CAPN11 |
|---|---|
| Full Name | calpain 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p12.1 |
| NCBI Gene ID | 11131 ncbi.nlm.nih.gov/gene/11131 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9BQJ8 |
| OMIM ID | 604221 |
| HGNC ID | 1478 |
| Aliases | CANP11, calpain-11, testis-specific calpain |
Description
CAPN11 (calpain 11) is a member of the calpain family of calcium-dependent cysteine proteases. It is predominantly expressed in the testis and plays a role in spermatogenesis, particularly in sperm maturation and acrosome reaction. The gene is located on chromosome 6p12.1 and encodes a protein of 703 amino acids. CAPN11 has been implicated in male infertility and is also studied in the context of certain cancers due to altered expression patterns.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss of CAPN11 function may impair sperm capacitation and acrosome reaction | Limited; inferred from expression and functional studies in model organisms |
| Cancer (various types) | Altered CAPN11 expression may affect cell adhesion and migration via proteolysis of cytoskeletal targets | COSMIC reports somatic mutations in multiple cancer types; functional significance under investigation |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.5 | High |
| Fallopian tube | 2.1 | Low |
| Prostate | 1.8 | Low |
| Thyroid | 1.2 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 12.3 | Moderate expression |
| MCF7 (breast cancer) | 0.5 | Low expression |
| HEK 293 (embryonic kidney) | 0.2 | Very low expression |
| K562 (leukemia) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.01% (gnomAD) | Unknown; predicted possibly damaging |
| c.1678G>A (p.Gly560Ser) | Missense | 0.005% (gnomAD) | Unknown; predicted benign |
| c.2012_2013insA (p.Glu671GlufsTer12) | Frameshift | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, likely leading to loss of proteolytic activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations in CAPN11.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calpain proteolysis pathway (Reactome: R-HSA-5625740)
• Spermatogenesis (KEGG: hsa04750)
Protein Summary
Calpain 11 is a 703-amino acid calcium-dependent cysteine protease belonging to the calpain family. It contains a catalytic domain with a cysteine active site, a calpain-type beta-sandwich domain, and a penta-EF-hand domain for calcium binding. The protein is predominantly expressed in testis and is involved in sperm function, including capacitation and acrosome reaction. Its proteolytic activity targets cytoskeletal and membrane proteins, modulating cell adhesion and motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAPN11 Knockout HEK293 Cell Line | EDJ-KQ7295 | Human | 11131 | Details Get a Quote |
| CAPN11 Knockout HeLa Cell Line | EDJ-KQ55578 | Human | 11131 | Details Get a Quote |
| CAPN11 Knockout A-549 Cell Line | EDJ-KQ64075 | Human | 11131 | Details Get a Quote |
| CAPN11 Knockout HCT 116 Cell Line | EDJ-KQ72524 | Human | 11131 | Details Get a Quote |
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