ATP2A1 Chromosome 16
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
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What This Gene Does
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
Gene Info
Gene Group
ATPases Ca2+ transporting
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000196296
Associated Conditions (4)
Brody myopathy
ATP2A1-related disorder
Inborn genetic diseases
Familial cancer of breast
Key Variants
RS1057522931
Conflicting classifications of pathogenicity
Brody myopathy, Brody myopathy
Health Risk
RS113803159
Conflicting classifications of pathogenicity
Brody myopathy, ATP2A1-related disorder, Brody myopathy
Health Risk
RS117350233
Conflicting classifications of pathogenicity
Brody myopathy, ATP2A1-related disorder, Brody myopathy
Health Risk
RS138565447
Conflicting classifications of pathogenicity
Brody myopathy, ATP2A1-related disorder, Brody myopathy
Health Risk
RS138880727
Conflicting classifications of pathogenicity
Brody myopathy, Brody myopathy
Health Risk
RS145043756
Conflicting classifications of pathogenicity
Brody myopathy, Brody myopathy
Health Risk
RS148925426
Conflicting classifications of pathogenicity
Brody myopathy, ATP2A1-related disorder, Brody myopathy
Health Risk
RS150068594
Conflicting classifications of pathogenicity
Brody myopathy, ATP2A1-related disorder, Brody myopathy
Health Risk
RS150721350
Conflicting classifications of pathogenicity
Brody myopathy, Inborn genetic diseases, ATP2A1-related disorder
Health Risk
RS186012808
Conflicting classifications of pathogenicity
Brody myopathy, Brody myopathy
Health Risk
RS199557273
Conflicting classifications of pathogenicity
Brody myopathy, Brody myopathy
Health Risk
RS200285714
Conflicting classifications of pathogenicity
Brody myopathy, Brody myopathy
Health Risk
All Variants (81)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1964119065 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS1964121186 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS201738416 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS2152196826 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS2152196866 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS2152213646 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS2506280469 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS2506332789 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS371090069 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS398124554 | Health Risk | Pathogenic | — |
| RS559067146 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS569683468 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS745337023 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS748241465 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS752371826 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS756940046 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS759847914 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS770239154 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS772363145 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy, Brody myopathy |
| RS895911431 | Health Risk | Pathogenic | Brody myopathy, Brody myopathy |
| RS1555516994 | Health Risk | Pathogenic/Likely pathogenic | Brody myopathy, Brody myopathy |
| RS1567479853 | Health Risk | Pathogenic/Likely pathogenic | Brody myopathy, Brody myopathy |
| RS1963456518 | Health Risk | Pathogenic/Likely pathogenic | Brody myopathy, Brody myopathy, Brody myopathy |
| RS368234110 | Health Risk | Pathogenic/Likely pathogenic | Brody myopathy, Brody myopathy, Brody myopathy |
| RS371058445 | Health Risk | Pathogenic/Likely pathogenic | Brody myopathy, Brody myopathy |
| RS398124555 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS551660089 | Health Risk | Pathogenic/Likely pathogenic | Brody myopathy, Familial cancer of breast, Brody myopathy |
| RS751365374 | Health Risk | Pathogenic/Likely pathogenic | Brody myopathy, ATP2A1-related disorder, Brody myopathy |
| RS755227074 | Health Risk | Pathogenic/Likely pathogenic | Brody myopathy, Brody myopathy |
| RS897301304 | Health Risk | Pathogenic/Likely pathogenic | Brody myopathy, Brody myopathy |
| RS972494690 | Health Risk | Pathogenic/Likely pathogenic | Brody myopathy, Brody myopathy |