ATP2C1 Chromosome 3
ATPase secretory pathway Ca2+ transporting 1
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What This Gene Does
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
ATPases Ca2+ transporting
Locus Type
gene with protein product
Location
3q22.1
Ensembl
ENSG00000017260
Associated Conditions (2)
ATP2C1-related disorder
Familial benign pemphigus
Key Variants
RS117316812
Conflicting classifications of pathogenicity
ATP2C1-related disorder, ATP2C1-related disorder
Health Risk
RS200427297
Conflicting classifications of pathogenicity
Familial benign pemphigus, Familial benign pemphigus
Health Risk
RS576648874
Conflicting classifications of pathogenicity
Familial benign pemphigus, Familial benign pemphigus
Health Risk
RS1048609704
Likely pathogenic
Health Risk
RS2108772656
Likely pathogenic
Health Risk
RS2531028773
Likely pathogenic
Health Risk
RS2531541261
Likely pathogenic
Familial benign pemphigus, Familial benign pemphigus
Health Risk
RS2531541423
Likely pathogenic
Familial benign pemphigus, Familial benign pemphigus
Health Risk
RS893418743
Likely pathogenic
Health Risk
RS963144528
Likely pathogenic
Health Risk
RS997949050
Likely pathogenic
Familial benign pemphigus, Familial benign pemphigus
Health Risk
RS1057517706
Pathogenic
Familial benign pemphigus, Familial benign pemphigus
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117316812 | Health Risk | Conflicting classifications of pathogenicity | ATP2C1-related disorder, ATP2C1-related disorder |
| RS200427297 | Health Risk | Conflicting classifications of pathogenicity | Familial benign pemphigus, Familial benign pemphigus |
| RS576648874 | Health Risk | Conflicting classifications of pathogenicity | Familial benign pemphigus, Familial benign pemphigus |
| RS1048609704 | Health Risk | Likely pathogenic | — |
| RS2108772656 | Health Risk | Likely pathogenic | — |
| RS2531028773 | Health Risk | Likely pathogenic | — |
| RS2531541261 | Health Risk | Likely pathogenic | Familial benign pemphigus, Familial benign pemphigus |
| RS2531541423 | Health Risk | Likely pathogenic | Familial benign pemphigus, Familial benign pemphigus |
| RS893418743 | Health Risk | Likely pathogenic | — |
| RS963144528 | Health Risk | Likely pathogenic | — |
| RS997949050 | Health Risk | Likely pathogenic | Familial benign pemphigus, Familial benign pemphigus |
| RS1057517706 | Health Risk | Pathogenic | Familial benign pemphigus, Familial benign pemphigus |
| RS1057518594 | Health Risk | Pathogenic | — |
| RS1057520634 | Health Risk | Pathogenic | — |
| RS1131691355 | Health Risk | Pathogenic | — |
| RS1196190757 | Health Risk | Pathogenic | — |
| RS137853012 | Health Risk | Pathogenic | Familial benign pemphigus, Familial benign pemphigus |
| RS137853013 | Health Risk | Pathogenic | Familial benign pemphigus, Familial benign pemphigus |
| RS137853014 | Health Risk | Pathogenic | Familial benign pemphigus, Familial benign pemphigus |
| RS137853015 | Health Risk | Pathogenic | Familial benign pemphigus, Familial benign pemphigus |
| RS1553767857 | Health Risk | Pathogenic | — |
| RS1553775581 | Health Risk | Pathogenic | — |
| RS1559971447 | Health Risk | Pathogenic | Familial benign pemphigus, Familial benign pemphigus |
| RS1559982055 | Health Risk | Pathogenic | Familial benign pemphigus, Familial benign pemphigus, Familial benign pemphigus |
| RS1560033613 | Health Risk | Pathogenic | Familial benign pemphigus, Familial benign pemphigus |
| RS1576976863 | Health Risk | Pathogenic | — |
| RS2108346361 | Health Risk | Pathogenic | — |
| RS2108914971 | Health Risk | Pathogenic | — |
| RS2531051260 | Health Risk | Pathogenic | — |
| RS2531132403 | Health Risk | Pathogenic | — |
| RS2531133278 | Health Risk | Pathogenic | — |
| RS2531335042 | Health Risk | Pathogenic | — |
| RS2531628823 | Health Risk | Pathogenic | — |
| RS4289320 | Health Risk | Pathogenic | — |
| RS748204512 | Health Risk | Pathogenic | Familial benign pemphigus, Familial benign pemphigus |
| RS776982434 | Health Risk | Pathogenic | — |
| RS2531133399 | Health Risk | Pathogenic/Likely pathogenic | Familial benign pemphigus, Familial benign pemphigus |