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 |
|---|---|---|---|
| RS769688710 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS772580081 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS772886155 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS773318451 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS773547765 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS774114705 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS774273767 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS775453643 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS775742866 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS776793553 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS779701414 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy |
| RS780680647 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS780810538 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS79440238 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS794727082 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS794727615 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS794727895 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS80338802 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS867628179 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886042296 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886042588 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS886042968 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886043143 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886043144 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886043175 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886043191 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS886043220 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS886043333 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886043344 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886043437 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886044427 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS886044480 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS919442493 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS946415346 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS988027905 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1057524468 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS1085307534 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1085307995 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1162942997 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS121434547 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1237444643 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy |
| RS1262587749 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1326483413 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS1335796666 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |
| RS1339644598 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1375420170 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS139836397 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1409503203 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS1432632972 | Health Risk | Likely pathogenic | Abnormality of the musculature, Limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1441359398 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 |