ATP2B4 Chromosome 1
ATPase plasma membrane Ca2+ transporting 4
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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 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"ATPases Ca2+ transporting|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000058668
Associated Conditions (1)
ATP2B4-related disorder
Key Variants
RS138521935
Conflicting classifications of pathogenicity
Health Risk
RS138580420
Conflicting classifications of pathogenicity
ATP2B4-related disorder, ATP2B4-related disorder
Health Risk
RS143974450
Conflicting classifications of pathogenicity
Health Risk
RS375107873
Conflicting classifications of pathogenicity
Health Risk
RS530220412
Conflicting classifications of pathogenicity
Health Risk
RS567340474
Conflicting classifications of pathogenicity
Health Risk
RS61825652
Conflicting classifications of pathogenicity
ATP2B4-related disorder, ATP2B4-related disorder
Health Risk
RS766543785
Conflicting classifications of pathogenicity
Health Risk
RS772008567
Conflicting classifications of pathogenicity
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138521935 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138580420 | Health Risk | Conflicting classifications of pathogenicity | ATP2B4-related disorder, ATP2B4-related disorder |
| RS143974450 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375107873 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS530220412 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS567340474 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61825652 | Health Risk | Conflicting classifications of pathogenicity | ATP2B4-related disorder, ATP2B4-related disorder |
| RS766543785 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772008567 | Health Risk | Conflicting classifications of pathogenicity | — |