CAPN3 Chromosome 15
Calpain 3
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What This Gene Does
Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"EF-hand domain containing|Calpains"
Locus Type
gene with protein product
Location
15q15.1
Ensembl
ENSG00000092529
Associated Conditions (39)
Autosomal recessive limb-girdle muscular dystrophy type 2A
CAPN3-related disorder
Muscular dystrophy
limb-girdle
autosomal dominant 4
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy
Hepatocellular carcinoma
Clear cell carcinoma of kidney
Lymphoma
Familial cancer of breast
Autosomal recessive limb-girdle muscular dystrophy type 2B
Abnormality of the musculature
Glioma susceptibility 1
Acute myeloid leukemia
Melanoma
Limb-girdle muscular dystrophy
Absent Achilles reflex
Myopathy
Muscle weakness
+19 more conditions
Key Variants
RS111525622
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
Health Risk
RS111806046
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2A
Health Risk
RS1131691320
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
Health Risk
RS1159580160
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle
Health Risk
RS138172448
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle
Health Risk
RS138867099
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
Health Risk
RS1391429681
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
Health Risk
RS140425651
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
Health Risk
RS141234995
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
Health Risk
RS143139259
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
Health Risk
RS143942248
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
Health Risk
RS144383442
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2A
Health Risk
All Variants (539)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2141199913 | Health Risk | Pathogenic | — |
| RS2141199970 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141202919 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141203435 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141210355 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS2141216768 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141219910 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141219970 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141221307 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141221357 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141221533 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141225604 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548224423 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548224591 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548224771 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548225046 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548225062 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548225228 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548252687 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548252750 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548255667 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548255670 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548255674 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy |
| RS2548255691 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548255775 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548255981 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548258180 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548260314 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548260454 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548260516 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548260668 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548262056 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548262062 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548262153 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548262198 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548265616 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548267382 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548267387 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548270128 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548270156 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548273864 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548273884 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548276716 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548276741 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548279192 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548279502 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548279560 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548287991 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548290188 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548290249 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |