CAPN3 Chromosome 15
Calpain 3
Upload your DNA to see your personal genotypes for variants in CAPN3.
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 |
|---|---|---|---|
| RS867531606 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS869312852 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886042108 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS886042440 | 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 |
| RS886042672 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS886042895 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS886042903 | Health Risk | Likely pathogenic | — |
| RS886044052 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS901764287 | 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 |
| RS939374091 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1051798261 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS121434544 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS121434545 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS121434546 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS121434548 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy |
| RS1275289254 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1278045166 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1293496023 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1301292668 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1320406417 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS1332454949 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS1334369407 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1342955565 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS1345121557 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS138846390 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1391365292 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS141656719 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS142004418 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1445724752 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1457010016 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1459288402 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1476836379 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS148851444 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS149914792 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Limb-girdle muscular dystrophy, Muscular dystrophy |
| RS1555417271 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1555420075 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555420302 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555420507 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1555420634 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555420639 | Health Risk | Pathogenic | — |
| RS1555420647 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555421271 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1555421280 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555421523 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1555421524 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555421532 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555421854 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1555421856 | Health Risk | Pathogenic | Abnormality of the musculature, Abnormality of the musculature |
| RS1555421871 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Lower-limb joint contracture, Muscular dystrophy |
| RS1555422145 | Health Risk | Pathogenic | — |