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 |
|---|---|---|---|
| RS2548261988 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548262138 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548265609 | Health Risk | Likely pathogenic | — |
| RS2548270143 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548270229 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548270234 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548273843 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548274050 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548276360 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548276512 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548277487 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548279211 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548279601 | Health Risk | Likely pathogenic | — |
| RS2548279629 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548284438 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS2548287742 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548288015 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS2548290164 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548291183 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548291710 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548291784 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548292755 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548293398 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548294312 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548294425 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548294450 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548294490 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548294503 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2548294565 | Health Risk | Likely pathogenic | — |
| RS2548297262 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS371784007 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS376107921 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS727503838 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS745967703 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS752046508 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS752155690 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS752397587 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS754930571 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS757469887 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS760919949 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS761430243 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS763449646 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS766917640 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS767106920 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy |
| RS767477904 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS777636094 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS786205490 | Health Risk | Likely pathogenic | — |
| RS786205491 | Health Risk | Likely pathogenic | — |
| RS863224962 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS863224966 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |