CAPN5 Chromosome 11
Calpain 5
Upload your DNA to see your personal genotypes for variants in CAPN5.
What This Gene Does
Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"C2 domain containing|Calpains"
Locus Type
gene with protein product
Location
11q13.5
Ensembl
ENSG00000149260
Associated Conditions (4)
Inborn genetic diseases
CAPN5-related disorder
Proliferative vitreoretinopathy
Autosomal dominant neovascular inflammatory vitreoretinopathy
Key Variants
RS149132399
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149759840
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151286594
Conflicting classifications of pathogenicity
Inborn genetic diseases, CAPN5-related disorder, Inborn genetic diseases
Health Risk
RS199509115
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199893083
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372227864
Conflicting classifications of pathogenicity
Inborn genetic diseases, CAPN5-related disorder, Inborn genetic diseases
Health Risk
RS372861545
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374146255
Conflicting classifications of pathogenicity
Health Risk
RS374843302
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS534203457
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS538890890
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782125333
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149132399 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149759840 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151286594 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CAPN5-related disorder, Inborn genetic diseases |
| RS199509115 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199893083 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372227864 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CAPN5-related disorder, Inborn genetic diseases |
| RS372861545 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374146255 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374843302 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS534203457 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS538890890 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782125333 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782372843 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782717683 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1950456995 | Health Risk | Pathogenic | Proliferative vitreoretinopathy, Proliferative vitreoretinopathy |
| RS397514601 | Health Risk | Pathogenic | Proliferative vitreoretinopathy, Autosomal dominant neovascular inflammatory vitreoretinopathy, Proliferative vitreoretinopathy |
| RS397514602 | Health Risk | Pathogenic | Proliferative vitreoretinopathy, Proliferative vitreoretinopathy |
| RS886041303 | Health Risk | Pathogenic | Proliferative vitreoretinopathy, Inborn genetic diseases, CAPN5-related disorder |