CAPN1 Chromosome 11
Calpain 1
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What This Gene Does
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Gene Info
Gene Group
"EF-hand domain containing|Calpains"
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000014216
Associated Conditions (6)
Uveal melanoma
Inborn genetic diseases
Autosomal recessive spastic paraplegia type 76
CAPN1-related disorder
Hereditary spastic paraplegia 11
Gastric cancer
Key Variants
RS17883283
Conflicting classifications of pathogenicity
Uveal melanoma, Uveal melanoma
Health Risk
RS199993600
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS368589277
Conflicting classifications of pathogenicity
Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
Health Risk
RS377259262
Conflicting classifications of pathogenicity
Health Risk
RS542565372
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1033887530
Likely pathogenic
Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
Health Risk
RS1356340954
Likely pathogenic
Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
Health Risk
RS2137318625
Likely pathogenic
Health Risk
RS2539312217
Likely pathogenic
CAPN1-related disorder, CAPN1-related disorder
Health Risk
RS778438052
Likely pathogenic
Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
Health Risk
RS779787878
Likely pathogenic
Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
Health Risk
RS1404239957
Pathogenic
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS17883283 | Health Risk | Conflicting classifications of pathogenicity | Uveal melanoma, Uveal melanoma |
| RS199993600 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368589277 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS377259262 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS542565372 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1033887530 | Health Risk | Likely pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS1356340954 | Health Risk | Likely pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS2137318625 | Health Risk | Likely pathogenic | — |
| RS2539312217 | Health Risk | Likely pathogenic | CAPN1-related disorder, CAPN1-related disorder |
| RS778438052 | Health Risk | Likely pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS779787878 | Health Risk | Likely pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS1404239957 | Health Risk | Pathogenic | — |
| RS1421591415 | Health Risk | Pathogenic | — |
| RS1471188671 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS1590847310 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS1948565964 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS1948582304 | Health Risk | Pathogenic | — |
| RS1948582433 | Health Risk | Pathogenic | — |
| RS1948582497 | Health Risk | Pathogenic | — |
| RS1948630635 | Health Risk | Pathogenic | — |
| RS1948961118 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS1948992593 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS2137318717 | Health Risk | Pathogenic | — |
| RS2539251246 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS2539266663 | Health Risk | Pathogenic | — |
| RS2539266695 | Health Risk | Pathogenic | — |
| RS2539312667 | Health Risk | Pathogenic | — |
| RS756205995 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS756830713 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS758312955 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS776839253 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS778722037 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, CAPN1-related disorder, Autosomal recessive spastic paraplegia type 76 |
| RS781004578 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS781683198 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS875989787 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS875989845 | Health Risk | Pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS1033093801 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spastic paraplegia type 76, Hereditary spastic paraplegia 11, Autosomal recessive spastic paraplegia type 76 |
| RS1428333006 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS1948677308 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS1949027966 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS199559271 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spastic paraplegia type 76, Gastric cancer, Autosomal recessive spastic paraplegia type 76 |
| RS375817528 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |
| RS753019478 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS955142329 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76 |