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 |
|---|---|---|---|
| RS863224956 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy |
| RS863224958 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy |
| RS863224959 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature, Muscular dystrophy |
| RS863224960 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS863224961 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature, Muscular dystrophy |
| RS863224963 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS863224964 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS863224965 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS878854364 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS886039597 | 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 |
| RS886041335 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS886042418 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886042439 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS886042557 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS886042573 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886042927 | Health Risk | Pathogenic | — |
| RS886043432 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS886043705 | Health Risk | Pathogenic | — |
| RS886043752 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS886044004 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886044417 | Health Risk | Pathogenic | — |
| RS886044475 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886044527 | 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 |
| RS965032792 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1064793620 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1164215001 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1274808359 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1366387924 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1447774727 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS147764579 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS147774793 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS149095128 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy |
| RS1555420462 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1555420468 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555420475 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555420642 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1555420765 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy |
| RS1555421263 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1555423060 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS1566975090 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1566984441 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1595837172 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1595844413 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1595847257 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS199806879 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS201736037 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy |
| RS2052598246 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS2053442769 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2053446296 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS2053484604 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |