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The official name of this gene is “ATPase, Ca++ transporting, plasma membrane 2.”
ATP2B2 is the gene's official symbol. The ATP2B2 gene is also known by other names, listed below.
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 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.
|601386 (http://omim.org/entry/601386)||DEAFNESS, AUTOSOMAL RECESSIVE 12|
|108733 (http://omim.org/entry/108733)||ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 2|
Cytogenetic Location: 3p25.3
Molecular Location on chromosome 3: base pairs 10,324,023 to 10,707,993
The ATP2B2 gene is located on the short (p) arm of chromosome 3 at position 25.3.
More precisely, the ATP2B2 gene is located from base pair 10,324,023 to base pair 10,707,993 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ATP2B2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
alternative splicing ; ATP ; autosomal ; autosomal recessive ; calcium ; cell ; enzyme ; gene ; homeostasis ; hydrolysis ; intracellular ; ions ; ion transport ; isoforms ; phosphate ; plasma ; plasma membrane ; protein ; recessive ; splicing ; tissue ; transcript
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.