ATP2B4 Chromosome 1

ATPase plasma membrane Ca2+ transporting 4
9 variants 9 Health Risk

Upload your DNA to see your personal genotypes for variants in ATP2B4.

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
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
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