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Gene Review

ATP2B3  -  ATPase, Ca++ transporting, plasma membrane 3

Homo sapiens

Synonyms: CFAP39, CLA2, OPCA, PMCA3, PMCA3a, ...
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Disease relevance of ATP2B3

  • The genes for several neurological and neuromuscular diseases have been assigned to the distal portion of Xq, and ATP2B3 is a candidate gene for these diseases [1].

High impact information on ATP2B3

  • The effects were much greater with the neuron-specific PMCA2 and PMCA3 than with the ubiquitously expressed isoforms 1 and 4 [2].
  • Unexpectedly, the truncated PMCA3 and PMCA4 were as effective as the full-length variants in influencing the homeostasis of Ca2+ in the cytosol and the organelles [2].
  • Novel splicing variants not described previously for human genes were detected for hPMCA3 and 4 at site A and for hPMCA1, 2, and 3 at site C [3].
  • Only chimaeras containing the N-terminal segment of SERCA1 were located in the endoplasmic reticulum (ER), whereas chimaeras containing the N-terminal segment from PMCA3 were able to escape from the ER and enter the endomembrane pathway en route for the plasma membrane [4].
  • These chimaeras have been constructed from the fast-twitch SERCA1 and the plasma-membrane calcium ATPase PMCA3 [4].

Biological context of ATP2B3


Anatomical context of ATP2B3


Other interactions of ATP2B3

  • Our results therefore support the exclusion of ATP2B3 as the causal disease gene of XLMTM [8].

Analytical, diagnostic and therapeutic context of ATP2B3

  • PMCA3 was not detected at protein or mRNA level in any human lens sample or cell culture, but was detected in the rat brain cortex used as a control [7].
  • The complete primary structure of a novel isoform (hPMCA3) has been determined by molecular cloning and nucleotide sequencing of its corresponding cDNA [9].
  • Specific probes detect major mRNA species of 5.6 kilobases for hPMCA1, and of 7.5 kilobases for hPMCA3, on Northern blots of human K562 erythroleukemic cell RNA [9].


  1. Localization of two genes encoding plasma membrane Ca2+ ATPases isoforms 2 (ATP2B2) and 3 (ATP2B3) to human chromosomes 3p26-->p25 and Xq28, respectively. Wang, M.G., Yi, H., Hilfiker, H., Carafoli, E., Strehler, E.E., McBride, O.W. Cytogenet. Cell Genet. (1994) [Pubmed]
  2. A comparative functional analysis of plasma membrane Ca2+ pump isoforms in intact cells. Brini, M., Coletto, L., Pierobon, N., Kraev, N., Guerini, D., Carafoli, E. J. Biol. Chem. (2003) [Pubmed]
  3. Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. Stauffer, T.P., Hilfiker, H., Carafoli, E., Strehler, E.E. J. Biol. Chem. (1993) [Pubmed]
  4. Sarco/endoplasmic-reticulum calcium ATPase SERCA1 is maintained in the endoplasmic reticulum by a retrieval signal located between residues 1 and 211. Newton, T., Black, J.P., Butler, J., Lee, A.G., Chad, J., East, J.M. Biochem. J. (2003) [Pubmed]
  5. Characterization and expression of plasma membrane Ca2+ ATPase (PMCA3) in the crayfish Procambarus clarkii antennal gland during molting. Gao, Y., Wheatly, M.G. J. Exp. Biol. (2004) [Pubmed]
  6. Expression and immunolocalization of plasma membrane calcium ATPase isoforms in human corneal epithelium. Talarico, E.F., Kennedy, B.G., Marfurt, C.F., Loeffler, K.U., Mangini, N.J. Mol. Vis. (2005) [Pubmed]
  7. Plasma membrane Ca2+-ATPase expression in the human lens. Marian, M.J., Li, H., Borchman, D., Paterson, C.A. Exp. Eye Res. (2005) [Pubmed]
  8. Detection of a new polymorphism in the plasma-membrane Ca2+ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1). Smolenicka, Z., Guerini, D., Carafoli, E., Kress, W., Liechti-Gallati, S. Hum. Genet. (1996) [Pubmed]
  9. Peptide sequence analysis and molecular cloning reveal two calcium pump isoforms in the human erythrocyte membrane. Strehler, E.E., James, P., Fischer, R., Heim, R., Vorherr, T., Filoteo, A.G., Penniston, J.T., Carafoli, E. J. Biol. Chem. (1990) [Pubmed]
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