ATP2B1 Chromosome 12
ATPase plasma membrane Ca2+ transporting 1
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What This Gene Does
The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ATPases Ca2+ transporting
Locus Type
gene with protein product
Location
12q21.33
Ensembl
ENSG00000070961
Associated Conditions (12)
Neurodevelopmental disorder
Intellectual developmental disorder
autosomal dominant 66
Inborn genetic diseases
ATP2B1-related disorder
Intellectual disability
autosomal dominant 30
Neurodevelopmental delay
Clubfoot
Hypocalcemia
Isolated Pierre-Robin syndrome
Periventricular nodular heterotopia
Key Variants
RS1161061134
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66
Health Risk
RS1433458409
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66
Health Risk
RS2540803952
Conflicting classifications of pathogenicity
Inborn genetic diseases, ATP2B1-related disorder, Inborn genetic diseases
Health Risk
RS1876205424
Likely pathogenic
Intellectual disability, autosomal dominant 30, Intellectual disability
Health Risk
RS1879993052
Likely pathogenic
Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66
Health Risk
RS1883642606
Likely pathogenic
Intellectual developmental disorder, autosomal dominant 66, Intellectual developmental disorder
Health Risk
RS2135942244
Likely pathogenic
Neurodevelopmental delay, Clubfoot, Hypocalcemia
Health Risk
RS2135949570
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2136050284
Likely pathogenic
Intellectual developmental disorder, autosomal dominant 66, Intellectual developmental disorder
Health Risk
RS2136106360
Likely pathogenic
Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66
Health Risk
RS2136158725
Likely pathogenic
Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66
Health Risk
RS2136192267
Likely pathogenic
Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1161061134 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66 |
| RS1433458409 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66 |
| RS2540803952 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ATP2B1-related disorder, Inborn genetic diseases |
| RS1876205424 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS1879993052 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66 |
| RS1883642606 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 66, Intellectual developmental disorder |
| RS2135942244 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Clubfoot, Hypocalcemia |
| RS2135949570 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2136050284 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 66, Intellectual developmental disorder |
| RS2136106360 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66 |
| RS2136158725 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66 |
| RS2136192267 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66 |
| RS2136193860 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66 |
| RS2540763693 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2540804225 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 66, Intellectual developmental disorder |
| RS2540804470 | Health Risk | Likely pathogenic | ATP2B1-related disorder, ATP2B1-related disorder |
| RS370810713 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Clubfoot, Hypocalcemia |
| RS1033577592 | Health Risk | Pathogenic | Neurodevelopmental disorder, Intellectual developmental disorder, autosomal dominant 66 |
| RS1879993574 | Health Risk | Pathogenic | — |
| RS2540803653 | Health Risk | Pathogenic | — |
| RS2540804052 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2540882833 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS902976276 | Health Risk | Pathogenic | — |
| RS1879711772 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |