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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CAPN6
calpain 6
Chromosome X · Xq23
NCBI Gene: 827Ensembl: ENSG00000077274.10HGNC: HGNC:1483UniProt: Q9Y6Q1
32PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingperinuclear region of cytoplasmspindle microtubulemicrotubule bundle formationNeurodevelopmental delayessential tremorFamilial prostate cancerprostate cancer
✦AI Summary

CAPN6 is a non-proteolytic calpain family member that functions as a microtubule-stabilizing protein and regulator of cytoskeletal dynamics 1. Unlike classical calpains, CAPN6 lacks active-site cysteine residues and does not possess protease activity 2. CAPN6 stabilizes microtubules by forming acetylated α-tubulin-rich bundles and regulates cell movement through Rac1/ARHGEF2-mediated lamellipodial formation 1. The PI3K-Akt signaling pathway regulates CAPN6 expression at transcriptional and post-transcriptional levels 2. CAPN6 has important roles in developmental and pathological contexts. CAPN6 deficiency promotes skeletal muscle differentiation during both embryonic development and adult regeneration 3. Conversely, CAPN6 overexpression promotes tumor progression in multiple contexts: it enhances uterine leiomyoma cell proliferation while suppressing apoptosis via Rac1/PAK1 signaling 4, is overexpressed in all uterine sarcomas and carcinosarcomas 5, and is upregulated in osteosarcoma and other tumors via PI3K/Akt pathway activation 6. In atherosclerosis, CAPN6 induction in inflamed macrophages dysregulates pre-mRNA splicing by sequestering CWC22, suppressing Rac1 signaling and promoting lipid accumulation 7. CAPN6 overexpression also drives chrX kidney disease progression through NF-κB-dependent mechanisms 8. These findings establish CAPN6 as a potential therapeutic target for cancer, atherosclerosis, and kidney disease.

Sources cited
1
CAPN6 is a microtubule-stabilizing protein lacking protease activity that regulates cytoskeletal organization and cell movement
PMID: 17210638
2
PI3K-Akt pathway regulates CAPN6 expression and CAPN6 promotes cancer cell proliferation while inhibiting apoptosis
PMID: 21255642
3
CAPN6 deficiency promotes skeletal muscle differentiation during embryonic development and adult regeneration
PMID: 23935533
4
CAPN6 overexpression in uterine leiomyomas promotes cell proliferation and inhibits apoptosis through Rac1/PAK1 signaling
PMID: 32161009
5
CAPN6 is overexpressed in all uterine sarcomas and carcinosarcomas compared to normal tissue
PMID: 17291261
6
CAPN6 induction in atherosclerotic macrophages dysregulates mRNA splicing by sequestering CWC22, suppressing Rac1 signaling and promoting atherogenicity
PMID: 27525442
7
CAPN6 overexpression promotes chronic kidney disease progression through NF-κB-dependent mechanisms affecting glycolysis
PMID: 37243758
8
CAPN6 is involved in tumorigenesis of uterine tumors and osteosarcoma by promoting cell proliferation and angiogenesis via PI3K/Akt pathway
PMID: 33000175
Disease Associationsⓘ20
Neurodevelopmental delayOpen Targets
0.34Weak
essential tremorOpen Targets
0.26Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
liver cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
chronic kidney diseaseOpen Targets
0.05Suggestive
breast carcinomaOpen Targets
0.04Suggestive
congenital macroglossiaOpen Targets
0.04Suggestive
macroglossiaOpen Targets
0.04Suggestive
cleft palate with or without ankyloglossia, X-linkedOpen Targets
0.04Suggestive
sarcomaOpen Targets
0.04Suggestive
Melkersson-Rosenthal syndromeOpen Targets
0.03Suggestive
van der Woude syndromeOpen Targets
0.03Suggestive
osteosarcomaOpen Targets
0.03Suggestive
Ophthalmoplegia - intellectual disability - lingua scrotalisOpen Targets
0.03Suggestive
ophthalmoplegia-intellectual disability-lingua scrotalis syndromeOpen Targets
0.03Suggestive
Duchenne muscular dystrophyOpen Targets
0.02Suggestive
scrapieOpen Targets
0.01Suggestive
Pathogenic Variants2
NM_014289.4(CAPN6):c.1088_1089del (p.Asp363fs)Pathogenic
Neurodevelopmental delay
★☆☆☆2025→ Residue 363
NM_014289.4(CAPN6):c.860G>A (p.Gly287Glu)Likely pathogenic
Essential tremor
☆☆☆☆2025→ Residue 287
View on ClinVar ↗
Related Genes
CAPNS1Protein interaction97%CAPNS2Protein interaction84%ARHGEF2Protein interaction81%CASTProtein interaction71%PGA4Shared pathway33%PGA3Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Liver
16%
Heart
11%
Lung
6%
Brain
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
CAPN6CAPNS1CAPNS2ARHGEF2CASTPGA4PGA3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y6Q1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.94Intolerant
Observed/Expected LoF0.35 [0.24–0.53]
RankingsWhere CAPN6 stands among ~20K protein-coding genes
  • #11,477of 20,598
    Most Researched32
  • #4,503of 5,498
    Most Pathogenic Variants2
  • #3,300of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedCAPN6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CAPN6 in disease: An emerging therapeutic target (Review).
PMID: 33000175
Int J Mol Med · 2020
1.00
2
Calpain-6 confers atherogenicity to macrophages by dysregulating pre-mRNA splicing.
PMID: 27525442
J Clin Invest · 2016
0.90
3
The PI3K-Akt pathway regulates calpain 6 expression, proliferation, and apoptosis.
PMID: 21255642
Cell Signal · 2011
0.80
4
Advanced glycation end products promote the progression of chronic kidney diseases by targeting calpain 6.
PMID: 37243758
Amino Acids · 2023
0.70
5
CAPN6 Regulates Uterine Leiomyoma Cell Proliferation and Apoptosis through the Rac1-Dependent Signaling Pathway.
PMID: 32161009
Ann Clin Lab Sci · 2020
0.60