Gene: ATP2B3

Alternate names for this Gene: CFAP39|CLA2|OPCA|PMCA3|PMCA3a|SCAX1

Gene Summary: 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 3. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: ATPase plasma membrane Ca2+ transporting 3

Type of Gene: protein-coding

rs5987017 in ATP2B3 gene and Common Variable Immunodeficiency PMID 21497890 2011 Genome-wide association identifies diverse causes of common variable immunodeficiency.

rs397514619 in ATP2B3 gene and SPINOCEREBELLAR ATAXIA, X-LINKED 1 PMID 22912398 2012 Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.