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 |
|---|---|---|---|
| RS2548279479 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548281168 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2548287787 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS28364528 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Glioma susceptibility 1, Acute myeloid leukemia |
| RS28364537 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS368385372 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS370231427 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS370313391 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS371166254 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS371577901 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS372401631 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS372438001 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature, Muscular dystrophy |
| RS372450879 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS374833797 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS377215244 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS530529988 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS541597520 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS542523863 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS546820887 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS557164942 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS567256305 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS569866483 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS587780291 | 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 |
| RS746311413 | 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 |
| RS746311570 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS747026964 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS747819910 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS747895099 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS748032310 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS749863676 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy, Inborn genetic diseases |
| RS751104396 | Health Risk | Conflicting classifications of pathogenicity | Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature |
| RS753686702 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS754375124 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS754761503 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS757482856 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS758795961 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS760196248 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS760344791 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS760626912 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS761637940 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS762223179 | Health Risk | Conflicting classifications of pathogenicity | CAPN3-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder |
| RS763112832 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS764370512 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS764551615 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS765292152 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS765935351 | 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 |
| RS766405190 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS767281996 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS768426565 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |
| RS768447053 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy, limb-girdle |