ATP2B3

Summary

Gene Symbol: ATP2B3
Description: ATPase plasma membrane Ca2+ transporting 3
Alias: CFAP39, CLA2, OPCA, PMCA3, PMCA3a, SCAX1, plasma membrane calcium-transporting ATPase 3, ATPase, Ca++ transporting, plasma membrane 3, cilia and flagella associated protein 39, plasma membrane calcium ATPase, plasma membrane calcium pump
Species: human
Products:     ATP2B3

Top Publications

  1. Backman S, Akerström T, Maharjan R, Cupisti K, Willenberg H, Hellman P, et al. RNA Sequencing Provides Novel Insights into the Transcriptome of Aldosterone Producing Adenomas. Sci Rep. 2019;9:6269 pubmed publisher
    ..Somatic mutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D and CTNNB1 have been described in ~60% of these tumours...
  2. Fernandes Rosa F, Williams T, Riester A, Steichen O, Beuschlein F, Boulkroun S, et al. Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma. Hypertension. 2014;64:354-61 pubmed publisher
    Primary aldosteronism is the most common form of secondary hypertension. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in aldosterone-producing adenomas (APAs)...
  3. Kenyon K, Bushong E, Mauer A, Strehler E, Weinberg R, Burette A. Cellular and subcellular localization of the neuron-specific plasma membrane calcium ATPase PMCA1a in the rat brain. J Comp Neurol. 2010;518:3169-83 pubmed publisher
    ..In contrast to PMCA2 and PMCA3, which are expressed in significant levels only in the brain and a few other tissues, PMCA1 is ubiquitously ..
  4. Talarico E, Kennedy B, Marfurt C, Loeffler K, Mangini N. Expression and immunolocalization of plasma membrane calcium ATPase isoforms in human corneal epithelium. Mol Vis. 2005;11:169-78 pubmed
    ..analysis of total RNA from hCE yielded PCR DNAs that were identified by sequencing as products of PMCA1, PMCA2, PMCA3, and PMCA4, thus confirming the immunoblot data...
  5. Boczek T, Lisek M, Ferenc B, Kowalski A, Wiktorska M, Zylinska L. Silencing of plasma membrane Ca2+-ATPase isoforms 2 and 3 impairs energy metabolism in differentiating PC12 cells. Biomed Res Int. 2014;2014:735106 pubmed publisher
    ..From four PMCA isoforms, the fastest PMCA2 and PMCA3 are expressed predominantly in excitable cells...
  6. El Zein R, Boulkroun S, Fernandes Rosa F, Zennaro M. Molecular genetics of Conn adenomas in the era of exome analysis. Presse Med. 2018;47:e151-e158 pubmed publisher
    ..Exome analysis of APA has allowed the identification of recurrent somatic mutations in KCNJ5, CACNA1D, ATP1A1, and ATP2B3 in more than 50 % of sporadic cases...
  7. Monticone S, Castellano I, Versace K, Lucatello B, Veglio F, Gomez Sanchez C, et al. Immunohistochemical, genetic and clinical characterization of sporadic aldosterone-producing adenomas. Mol Cell Endocrinol. 2015;411:146-54 pubmed publisher
    ..Recently reported somatic mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D can partially account for these differences...
  8. Vicario M, Zanni G, Vallese F, Santorelli F, Grinzato A, Cieri D, et al. A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia. Neurobiol Dis. 2018;115:157-166 pubmed publisher
    ..association with cadherin 23 mutations have been linked to hearing loss phenotypes, while those occurring in the PMCA3 gene were associated with X-linked congenital cerebellar ataxias...
  9. Zheng F, Zhu L, Nie A, Li X, Lin J, Zhang K, et al. Clinical characteristics of somatic mutations in Chinese patients with aldosterone-producing adenoma. Hypertension. 2015;65:622-8 pubmed publisher
    Recent studies have shown that somatic mutations in the KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes are associated with the pathogenesis of aldosterone-producing adenoma...

More Information

Publications69

  1. Zennaro M, Boulkroun S, Fernandes Rosa F. An update on novel mechanisms of primary aldosteronism. J Endocrinol. 2015;224:R63-77 pubmed publisher
    ..Recurrent somatic mutations in genes coding for ion channels (KCNJ5 and CACNA1D) and ATPases (ATP1A1 and ATP2B3) regulating intracellular ionic homeostasis and cell membrane potential have been identified in APA...
  2. Wang B, Li X, Zhang X, Ma X, Chen L, Zhang Y, et al. Prevalence and characterization of somatic mutations in Chinese aldosterone-producing adenoma patients. Medicine (Baltimore). 2015;94:e708 pubmed publisher
    Recently somatic mutations of KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been identified in patients with aldosterone-producing adenoma (APA)...
  3. Tatsuki F, Sunagawa G, Shi S, Susaki E, Yukinaga H, Perrin D, et al. Involvement of Ca(2+)-Dependent Hyperpolarization in Sleep Duration in Mammals. Neuron. 2016;90:70-85 pubmed publisher
    ..kinases (Camk2a and Camk2b) decrease sleep duration, while impaired plasma membrane Ca(2+) ATPase (Atp2b3) increases sleep duration...
  4. Åkerström T, Maharjan R, Sven Willenberg H, Cupisti K, Ip J, Moser A, et al. Activating mutations in CTNNB1 in aldosterone producing adenomas. Sci Rep. 2016;6:19546 pubmed publisher
    ..1% of the tumors, occurring mutually exclusive from mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D...
  5. Lisek M, Ferenc B, Studzian M, Pulaski L, Guo F, Zylinska L, et al. Glutamate Deregulation in Ketamine-Induced Psychosis-A Potential Role of PSD95, NMDA Receptor and PMCA Interaction. Front Cell Neurosci. 2017;11:181 pubmed publisher
    ..In the same animals, we were able to demonstrate significant inhibition of plasma membrane calcium ATPase (PMCA) activity in cerebellum, hippocampus and striatum...
  6. Boczek T, Ferenc B, Lisek M, Zylinska L. Regulation of GAP43/calmodulin complex formation via calcineurin-dependent mechanism in differentiated PC12 cells with altered PMCA isoforms composition. Mol Cell Biochem. 2015;407:251-62 pubmed publisher
    Several lines of evidence suggest the contribution of age-related decline in plasma membrane calcium pump (PMCA) to the onset of neurodegenerative diseases...
  7. Williams T, Peitzsch M, Dietz A, Dekkers T, Bidlingmaier M, Riester A, et al. Genotype-Specific Steroid Profiles Associated With Aldosterone-Producing Adenomas. Hypertension. 2016;67:139-45 pubmed publisher
    ..Somatic APA mutations have been described in other genes (CACNA1D, ATP1A1, and ATP2B3) albeit at a lower frequency...
  8. Kitamoto T, Suematsu S, Yamazaki Y, Nakamura Y, Sasano H, Matsuzawa Y, et al. Clinical and Steroidogenic Characteristics of Aldosterone-Producing Adenomas With ATPase or CACNA1D Gene Mutations. J Clin Endocrinol Metab. 2016;101:494-503 pubmed publisher
    ..Somatic ATPase and CACNA1D gene mutations were analyzed in 42 APA tissues without KCNJ5 gene mutations. ATP1A1, ATP2B3, and CACNA1D mutations were detected in one, four, and four patients, respectively...
  9. Barresi S, Niceta M, Alfieri P, Brankovic V, Piccini G, Bruselles A, et al. Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. Clin Genet. 2017;91:86-91 pubmed publisher
    ..vermis atrophy in parallel with targeted next-generation sequencing of known ataxia genes (CACNA1A, ITPR1, KCNC3, ATP2B3 and GRM1) in 12 additional patients with a similar phenotype...
  10. Tan G, Negro G, Pinggera A, Tizen Laim N, Mohamed Rose I, Ceral J, et al. Aldosterone-Producing Adenomas: Histopathology-Genotype Correlation and Identification of a Novel CACNA1D Mutation. Hypertension. 2017;70:129-136 pubmed publisher
    Mutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D, and CTNNB1 are thought to cause the excessive autonomous aldosterone secretion of aldosterone-producing adenomas (APAs)...
  11. James A, Patel W, Butt Z, Adiamah M, Dakhel R, Latif A, et al. The Plasma Membrane Calcium Pump in Pancreatic Cancer Cells Exhibiting the Warburg Effect Relies on Glycolytic ATP. J Biol Chem. 2015;290:24760-71 pubmed publisher
  12. White K, Gesek F, Nesbitt T, Drezner M, Friedman P. Molecular dissection of Ca2+ efflux in immortalized proximal tubule cells. J Gen Physiol. 1997;109:217-28 pubmed
    ..5 and 5.5 kb for PMCA1 and 8.5 and 7.5 kb for PMCA4, but were negative for PMCA2 and PMCA3. Western analysis with a monoclonal antibody to PMCA showed that all proximal cell lines expressed a reacting ..
  13. Dutta R, Söderkvist P, Gimm O. Genetics of primary hyperaldosteronism. Endocr Relat Cancer. 2016;23:R437-54 pubmed publisher
    ..Several novel susceptibility genes have been found to be mutated in aldosterone-producing adenomas: KCNJ5, ATP1A1, ATP2B3, CTNNB1, CACNA1D, CACNA1H and ARMC5 This review describes the genes currently known to be responsible for primary ..
  14. Murakami M, Yoshimoto T, Minami I, Bouchi R, Tsuchiya K, Hashimoto K, et al. A Novel Somatic Deletion Mutation of ATP2B3 in Aldosterone-Producing Adenoma. Endocr Pathol. 2015;26:328-33 pubmed publisher
    ..Recent studies suggested that somatic mutations in the KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes are involved in the pathogenesis of APA...
  15. Ryan Z, Craig T, Filoteo A, Westendorf J, Cartwright E, Neyses L, et al. Deletion of the intestinal plasma membrane calcium pump, isoform 1, Atp2b1, in mice is associated with decreased bone mineral density and impaired responsiveness to 1, 25-dihydroxyvitamin D3. Biochem Biophys Res Commun. 2015;467:152-6 pubmed publisher
    The physiological importance of the intestinal plasma membrane calcium pump, isoform 1, (Pmca1, Atp2b1), in calcium absorption and homeostasis has not been previously demonstrated in vivo...
  16. Faillot S, Assie G. ENDOCRINE TUMOURS: The genomics of adrenocortical tumors. Eur J Endocrinol. 2016;174:R249-65 pubmed publisher
    ..Exome sequencing identified new major drivers in all tumor types, including KCNJ5, ATP1A1, ATP2B3 and CACNA1D mutations in aldosterone-producing adenomas (APA), PRKACA mutations in cortisol-producing adenomas (..
  17. Wakui H, Sumida K, Fujita M, Ohtomo Y, Ohsawa M, Kobayashi R, et al. Enhancement of intrarenal plasma membrane calcium pump isoform 1 expression in chronic angiotensin II-infused mice. Physiol Rep. 2017;5: pubmed publisher
    b>Plasma membrane calcium pump isoform 1 (PMCA1) is encoded by ATPase plasma membrane Ca2+transporting 1 (ATP2B1), the most likely candidate gene responsible for hypertension...
  18. Cali T, Frizzarin M, Luoni L, Zonta F, Pantano S, Cruz C, et al. The ataxia related G1107D mutation of the plasma membrane Ca2+ ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition process. Biochim Biophys Acta Mol Basis Dis. 2017;1863:165-173 pubmed publisher
    ..We further show that the G1107D replacement impairs the autoinhibition mechanism of the PMCA3 pump as well, as the introduction of a negative charge perturbs the contacts between the CaM-BD and the pump core...
  19. Nanba K, Chen A, Omata K, Vinco M, Giordano T, Else T, et al. Molecular Heterogeneity in Aldosterone-Producing Adenomas. J Clin Endocrinol Metab. 2016;101:999-1007 pubmed publisher
    ..regions, and one had two different mutations localized to two histologically distinct CYP11B2-positive regions (ATP2B3 p.L424_V425del, KCNJ5 p.G151R)...
  20. Bortolozzi M, Mammano F. PMCA2 pump mutations and hereditary deafness. Neurosci Lett. 2018;663:18-24 pubmed publisher
    ..These results highlight a critical role played by the PMCA2w/a pump in the control of hair cell function and survival, and provide mechanistic insight into the etiology of deafness and vestibular disorders. ..
  21. Fernandes Rosa F, Boulkroun S, Zennaro M. Somatic and inherited mutations in primary aldosteronism. J Mol Endocrinol. 2017;59:R47-R63 pubmed publisher
    ..Over the past few years, somatic mutations in KCNJ5, CACNA1D, ATP1A1 and ATP2B3 have been proven to be associated with APA development, representing more than 50% of sporadic APA...
  22. Krebs J. The Plasma Membrane Calcium Pump (PMCA): Regulation of Cytosolic Ca2+, Genetic Diversities and Its Role in Sub-plasma Membrane Microdomains. Adv Exp Med Biol. 2017;981:3-21 pubmed publisher
    In this chapter the four different genes of the mammalian plasma membrane calcium ATPase (PMCA) and their spliced isoforms are discussed with respect to the structural and functional properties of PMCA, the tissue distribution of the ..
  23. Daniil G, Fernandes Rosa F, Chemin J, Blesneac I, Beltrand J, Polak M, et al. CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism. EBioMedicine. 2016;13:225-236 pubmed publisher
    Primary aldosteronism (PA) is the most common form of secondary hypertension. Mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D are found in aldosterone producing adenoma (APA) and familial hyperaldosteronism (FH)...
  24. Monticone S, Buffolo F, Tetti M, Veglio F, Pasini B, Mulatero P. GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism. Eur J Endocrinol. 2018;178:R101-R111 pubmed publisher
    ..Somatic mutations in four genes (KCNJ5, ATP1A1, ATP2B3 and CACNA1D), differently implicated in intracellular ion homeostasis, have been identified in nearly ..
  25. Veklich T, Mazur I, Kosterin S. [Mg2+, ATP-dependent plasma membrane calcium pump of smooth muscle cells. I. Structural organization and properties]. Ukr Biochem J. 2015;87:5-20 pubmed
    ..One of key proteins which control Ca2+ concentration in cytoplasm is Mg2+, ATP-dependent plasma membrane calcium pump. Thus, it is important to find compoumds which allowed one to change Mg2+, ATP-dependent plasma ..
  26. Nakajima Y, Okamura T, Horiguchi K, Gohko T, Miyamoto T, Satoh T, et al. GNAS mutations in adrenal aldosterone-producing adenomas. Endocr J. 2016;63:199-204 pubmed publisher
    ..Our results suggest that these mutations, in addition to mutations in the KCNJ5 gene and other genes such as ATP1A1, ATP2B3 and CACNA1D, may be responsible for the tumorigenesis of APAs and CPAs with subclinical Cushing's syndrome.
  27. Boczek T, Lisek M, Ferenc B, Zylinska L. Cross talk among PMCA, calcineurin and NFAT transcription factors in control of calmodulin gene expression in differentiating PC12 cells. Biochim Biophys Acta Gene Regul Mech. 2017;1860:502-515 pubmed publisher
    Brain aging is characterized by progressive loss of plasma membrane calcium pump (PMCA) and its activator - calmodulin (CaM), but the mechanism of this phenomenon remains unresolved...
  28. Hong A, Kim J, Song Y, Lee K, Seo S, Seong M, et al. Genetics of Aldosterone-Producing Adenoma in Korean Patients. PLoS ONE. 2016;11:e0147590 pubmed publisher
    Recently, somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes were found to be associated with the pathogenesis of aldosterone-producing adenoma (APA)...
  29. Fallo F, Castellano I, Gomez Sanchez C, Rhayem Y, Pilon C, Vicennati V, et al. Histopathological and genetic characterization of aldosterone-producing adenomas with concurrent subclinical cortisol hypersecretion: a case series. Endocrine. 2017;58:503-512 pubmed publisher
    ..Spot regions for mutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D, PRKACA, and CTNNB1 gene sequences were evaluated...
  30. Maniero C, Garg S, Zhao W, Johnson T, Zhou J, Gurnell M, et al. NEFM (Neurofilament Medium) Polypeptide, a Marker for Zona Glomerulosa Cells in Human Adrenal, Inhibits D1R (Dopamine D1 Receptor)-Mediated Secretion of Aldosterone. Hypertension. 2017;70:357-364 pubmed publisher
    ..mutations predominate in large zona fasciculata (ZF)-like APAs; mutations in CACNA1D, ATP1A1, ATP2B3, and CTNNB1 are more likely to be found in small zona glomerulosa (ZG)-like APAs...
  31. Scholl U, Healy J, Thiel A, Fonseca A, Brown T, Kunstman J, et al. Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype. Clin Endocrinol (Oxf). 2015;83:779-89 pubmed publisher
    ..Somatic mutations in KCNJ5, CACNA1D, ATP1A1, ATP2B3 and CTNNB1 have been described in APAs...
  32. Mallon A, Platzer M, Bate R, Gloeckner G, Botcherby M, Nordsiek G, et al. Comparative genome sequence analysis of the Bpa/Str region in mouse and Man. Genome Res. 2000;10:758-75 pubmed
    ..Surprisingly, this region showed an extremely high LINE and low SINE content, low G+C content, and yet a relatively high gene density, in contrast to the low gene density usually associated with such regions. ..
  33. Moreau R, Daoud G, Masse A, Simoneau L, Lafond J. Expression and role of calcium-ATPase pump and sodium-calcium exchanger in differentiated trophoblasts from human term placenta. Mol Reprod Dev. 2003;65:283-8 pubmed
  34. Cali T, Lopreiato R, Shimony J, Vineyard M, Frizzarin M, Zanni G, et al. A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations. J Biol Chem. 2015;290:16132-41 pubmed publisher
    ..Here we describe a novel mutation in the ATP2B3 gene in a patient with global developmental delay, generalized hypotonia and cerebellar ataxia...
  35. Scholl U. Unanswered Questions in the Genetic Basis of Primary Aldosteronism. Horm Metab Res. 2017;: pubmed publisher
    ..discoveries include the role of somatic variants in the KCNJ5, CACNA1D, ATP1A1, and ATP2B3 genes as causes of aldosterone-producing adenomas (APAs), and the recognition of three novel ..
  36. Tauber P, Aichinger B, Christ C, Stindl J, Rhayem Y, Beuschlein F, et al. Cellular Pathophysiology of an Adrenal Adenoma-Associated Mutant of the Plasma Membrane Ca(2+)-ATPase ATP2B3. Endocrinology. 2016;157:2489-99 pubmed publisher
    ..Mutations of the plasma membrane Ca(2+)-ATPase ATP2B3 have been found in APAs with a prevalence of 0.6%-3.1%...
  37. Howard A, Legon S, Walters J. Human and rat intestinal plasma membrane calcium pump isoforms. Am J Physiol. 1993;265:G917-25 pubmed
    ..However, PMCA1 was overwhelmingly predominant in the mucosa of the small intestine, being most abundant in duodenum. These results suggest the involvement of the Ca(2+)-pump isoform PMCA1b in intestinal Ca2+ absorption...
  38. Møller J, Juul B, le Maire M. Structural organization, ion transport, and energy transduction of P-type ATPases. Biochim Biophys Acta. 1996;1286:1-51 pubmed
  39. Ferreira Gomes M, Mangialavori I, Ontiveros M, Rinaldi D, Martiarena J, Verstraeten S, et al. Selectivity of plasma membrane calcium ATPase (PMCA)-mediated extrusion of toxic divalent cations in vitro and in cultured cells. Arch Toxicol. 2018;92:273-288 pubmed publisher
    ..The plasma membrane calcium pump (PMCA) maintains Ca2+ homeostasis in eukaryotic cells by mediating the efflux of this cation ..
  40. Williams T, Monticone S, Schack V, Stindl J, Burrello J, Buffolo F, et al. Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas. Hypertension. 2014;63:188-95 pubmed publisher
    ..Additional somatic APA mutations were identified recently in 2 other genes, ATP1A1 and ATP2B3, encoding Na(+)/K(+)-ATPase 1 and Ca(2+)-ATPase 3, respectively, at a combined prevalence of 6.8%...
  41. Figueroa K, Paul S, Calì T, Lopreiato R, Karan S, Frizzarin M, et al. Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia. Dis Model Mech. 2016;9:553-62 pubmed publisher
    ..caused an arginine (R) to cysteine (C) change at codon 35 of the ATPase, Ca(2+) transporting, plasma membrane 3 (Atp2b3) gene encoding PMCA3 that has high expression in the cerebellum...
  42. Dutta R, Welander J, Brauckhoff M, Walz M, Alesina P, Arnesen T, et al. Complementary somatic mutations of KCNJ5, ATP1A1, and ATP2B3 in sporadic aldosterone producing adrenal adenomas. Endocr Relat Cancer. 2014;21:L1-4 pubmed publisher
  43. Zanni G, Cali T, Kalscheuer V, Ottolini D, Barresi S, Lebrun N, et al. Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proc Natl Acad Sci U S A. 2012;109:14514-9 pubmed publisher
    ..b>PMCA3 is highly expressed in the cerebellum, particularly in the presynaptic terminals of parallel fibers-Purkinje ..
  44. Ribases M, Bosch R, Hervas A, Ramos Quiroga J, Sánchez Mora C, Bielsa A, et al. Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. Biol Psychiatry. 2009;66:926-34 pubmed publisher
    ..9-fold differential expression between hemispheres (BAIAP2, DAPPER1, LMO4, NEUROD6, ATP2B3, and ID2) and performed a case-control association study in an initial Spanish sample of 587 ADHD patients (270 ..
  45. Martin R, Harvey N, Crozier S, Poole J, Javaid M, Dennison E, et al. Placental calcium transporter (PMCA3) gene expression predicts intrauterine bone mineral accrual. Bone. 2007;40:1203-8 pubmed
    ..b>PMCA3 mRNA expression predicted BA (r=0.28, p=0.02), BMC (r=0.25, p=0.04), placental weight (r=0.26, p=0...
  46. Strehler E, Treiman M. Calcium pumps of plasma membrane and cell interior. Curr Mol Med. 2004;4:323-35 pubmed
  47. Akerström T, Willenberg H, Cupisti K, Ip J, Backman S, Moser A, et al. Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas. Endocr Relat Cancer. 2015;22:735-44 pubmed publisher
    ..More recently, somatic mutations in CACNA1D, ATP1A1 and ATP2B3, also important for membrane potential/intracellular Ca(2) (+) regulation, were observed in APAs...
  48. Brandt P, Neve R, Kammesheidt A, Rhoads R, Vanaman T. Analysis of the tissue-specific distribution of mRNAs encoding the plasma membrane calcium-pumping ATPases and characterization of an alternately spliced form of PMCA4 at the cDNA and genomic levels. J Biol Chem. 1992;267:4376-85 pubmed
    ..PMCA2 was found in liver, adrenal gland, spinal cord, and brain. PMCA3a was present in spinal cord, and PMCA3b in thymus, adrenal gland, spinal cord, and brain...
  49. Fernandes Rosa F, Giscos Douriez I, Amar L, Gomez Sanchez C, Meatchi T, Boulkroun S, et al. Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma. Hypertension. 2015;66:1014-22 pubmed publisher
    Primary aldosteronism is the most common form of secondary hypertension. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D are found in aldosterone-producing adenoma...
  50. Strehler E, Zacharias D. Role of alternative splicing in generating isoform diversity among plasma membrane calcium pumps. Physiol Rev. 2001;81:21-50 pubmed
  51. Brown B, Hilfiker H, DeMarco S, Zacharias D, Greenwood T, Guerini D, et al. Primary structure of human plasma membrane Ca(2+)-ATPase isoform 3. Biochim Biophys Acta. 1996;1283:10-3 pubmed
    The complete coding sequence of the human plasma membrane calcium ATPase (PMCA) isoform 3 was determined from overlapping genomic and cDNA clones...
  52. Illarioshkin S, Tanaka H, Markova E, Nikolskaya N, Ivanova Smolenskaya I, Tsuji S. X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq. Ann Neurol. 1996;40:75-83 pubmed
    ..66 at the locus DXS1059 (Xq23). This is the first example of the genetic mapping of a pure congenital cerebellar hypoplasia syndrome. ..
  53. Stauffer T, Hilfiker H, Carafoli E, Strehler E. Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. J Biol Chem. 1993;268:25993-6003 pubmed
    ..options and the quantitative tissue distribution of the transcripts of the four currently known human plasma membrane calcium pump (PMCA) genes have been analyzed in seven tissues (cerebral cortex, skeletal and heart muscle, stomach, ..
  54. van Beek N, Patsatsi A, Gupta Y, Möller S, Freitag M, Lemcke S, et al. A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?. PLoS ONE. 2015;10:e0121253 pubmed publisher
    ..7 additional SNPs in 4 ATPase genes (ATP9B, ATP11A, ATP2B3 and ATP13A5) were identified...
  55. Vicario M, Cali T, Cieri D, Vallese F, Bortolotto R, Lopreiato R, et al. A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect. Biochim Biophys Acta Mol Basis Dis. 2017;1863:3303-3312 pubmed publisher
    ..Several function-affecting genetic mutations in the PMCA3 pump associated to X-linked congenital cerebellar ataxias have indeed been described...
  56. Linde C, Di Leva F, Domi T, Tosatto S, Brini M, Carafoli E. Inhibitory interaction of the 14-3-3 proteins with ubiquitous (PMCA1) and tissue-specific (PMCA3) isoforms of the plasma membrane Ca2+ pump. Cell Calcium. 2008;43:550-61 pubmed
    ..The investigation has been extended to the other tissue-restricted pump (PMCA3) and to the other ubiquitous pump (PMCA1)...
  57. Soekmadji C, Rockstroh A, Ramm G, Nelson C, Russell P. Extracellular Vesicles in the Adaptive Process of Prostate Cancer During Inhibition of Androgen Receptor Signalling by Enzalutamide. Proteomics. 2017;: pubmed publisher
    ..We found that treatment with enzalutamide alters the secretion of EVs, one of which is a plasma membrane calcium pump, ATP2B1/PMCA ATPase, as an AR-regulated EV protein...
  58. Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen H, Lichtenauer U, et al. Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat Genet. 2013;45:440-4, 444e1-2 pubmed publisher
    ..We identified somatic hotspot mutations in the ATP1A1 (encoding an Na(+)/K(+) ATPase α subunit) and ATP2B3 (encoding a Ca(2+) ATPase) genes in three and two of the nine APAs, respectively...
  59. Wang M, Yi H, Hilfiker H, Carafoli E, Strehler E, McBride O. Localization of two genes encoding plasma membrane Ca2+ ATPases isoforms 2 (ATP2B2) and 3 (ATP2B3) to human chromosomes 3p26-->p25 and Xq28, respectively. Cytogenet Cell Genet. 1994;67:41-5 pubmed
    ..FISH), analysis of somatic cell hybrids, and genetic linkage analyses, we now report localization of ATP2B3 (PMCA isoform 3) to human chromosome Xq28, and confirm the recent localization of ATP2B2 (PMCA isoform 2) to ..
  60. Stauffer T, Hilfiker H, Carafoli E, Strehler E. Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. J Biol Chem. 1994;269:32022 pubmed