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ATP2A2  -  ATPase, Ca++ transporting, cardiac muscle,...

Homo sapiens

Synonyms: ATP2B, Calcium pump 2, Calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform, DAR, DD, ...
 
 
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Disease relevance of ATP2A2

 

Psychiatry related information on ATP2A2

 

High impact information on ATP2A2

 

Chemical compound and disease context of ATP2A2

 

Biological context of ATP2A2

 

Anatomical context of ATP2A2

  • Although previous studies have shown acute SERCA2 inactivation to abrogate Ca2+ signaling, we find that chronic inactivation of ATP2A2 in keratinocytes from patients with the similar acantholytic genodermatosis, Darier disease, does not impair the response to raised extracellular Ca2+ levels [20].
  • ATP2A2 encoding the sarco(endo)plasmic reticulum Ca2+ ATPase2 pump has been identified as the defective gene in Darier's disease [21].
  • Here, we show that while both common isoforms of SERCA2 are expressed in the cytoplasm of cultured keratinocytes and fibroblasts, in adult skin sections only the longer isoform, SERCA2b, was expressed abundantly in epidermal structures [16].
  • Immunohistochemistry revealed that CaT-Like is located in the basolateral plasma membrane of acinar cells; while calbindin-2, SERCA-2 and SERCA-3 were found inside the acinar cells; and PMCA-2 was found in the apical membrane and in the secretory canaliculi between the cells [22].
  • These data indicate that the alternative splicing pattern of the 3(') region of the SERCA2 primary transcript is more complex than that previously thought and that this enzyme may be involved in the process of monocyte differentiation [23].
 

Associations of ATP2A2 with chemical compounds

  • The addition of retinoids or corticosteroids to the cell culture inhibited the UVB-induced suppression of both ATP2A2 and ATP2C1 mRNA levels, and UVB-induced suppression of ATP2C1 mRNA was also inhibited by the addition of ciclosporin, tacrolimus and vitamin D(3) [24].
  • RESULTS: Control and HHD keratinocytes displayed approximately the same Ca2+ levels in resting phase, while DD keratinocytes showed elevated Ca2+ levels [25].
  • In parallel, infection of neonatal cardiac myocytes by Adv/asPLB decreased the endogenous PLB level by 54%, which was associated with a 35% increase in Ca(2+) affinity of SERCA2 and 21% faster diastolic Ca(2+) decline [26].
  • We report a patient with severe sporadic DD, who did not respond adequately to repeated courses of orally administered acitretin and isotretinoin [27].
  • In subcellular fractionation studies, SERCA2 and type-1 Ins(1,4,5)P3 receptor co-purified [28].
 

Physical interactions of ATP2A2

  • Mutagenesis studies of phospholamban also demonstrated that the hydrophilic, cytoplasmic region of phospholamban contains a potential binding site for SERCA 2 [29].
  • Studies using photoactivated cross-linker and chimeric Ca-ATPase between SERCA2 and nonmuscle Ca-ATPase (SERCA3) indicated that potential binding residues are located just downstream of the active ATPase site (Asp351) of SERCA2 [30].
 

Co-localisations of ATP2A2

  • Moreover, IP3-R was translocated to and colocalized with EB aggregates and chlamydial inclusions and had a distribution very similar to that of SERCA 2 [31].
 

Regulatory relationships of ATP2A2

  • Phospholamban (PLB) inhibits SERCA2 activity and is therefore a potential target to improve the cardiac performance in heart failure [26].
 

Other interactions of ATP2A2

  • This study demonstrates that defects in ATP2C1 cause HHD and together with the recent identification of ATP2A2 as the defective gene in Darier's disease, provide further evidence of the critical role of Ca(2+)signaling in maintaining epidermal integrity [32].
  • Several known genes including ATP2A2, UBE3B, and VR-OAC that map in the 12q22-q24.1 region are included in the deletion [33].
  • Total RNA was isolated and hybridized with 32P-labeled cDNAs for human PLB and rat SERCA2 [34].
  • SERCA1 is expressed exclusively in fast skeletal muscle; SERCA2 is ubiquitously expressed, whereas SERCA3 is considered to be mainly expressed in cells of the hematopoietic lineage and in some epithelial cells [35].
  • SERCA3 was not expressed in normal or DD epidermis, but was found in eccrine glands and blood vessels [36].
 

Analytical, diagnostic and therapeutic context of ATP2A2

References

  1. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Sakuntabhai, A., Ruiz-Perez, V., Carter, S., Jacobsen, N., Burge, S., Monk, S., Smith, M., Munro, C.S., O'Donovan, M., Craddock, N., Kucherlapati, R., Rees, J.L., Owen, M., Lathrop, G.M., Monaco, A.P., Strachan, T., Hovnanian, A. Nat. Genet. (1999) [Pubmed]
  2. Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease. Dhitavat, J., Fairclough, R.J., Hovnanian, A., Burge, S.M. Br. J. Dermatol. (2004) [Pubmed]
  3. Alterations in the ATP2A2 gene in correlation with colon and lung cancer. Korosec, B., Glavac, D., Rott, T., Ravnik-Glavac, M. Cancer Genet. Cytogenet. (2006) [Pubmed]
  4. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Jacobsen, N.J., Lyons, I., Hoogendoorn, B., Burge, S., Kwok, P.Y., O'Donovan, M.C., Craddock, N., Owen, M.J. Hum. Mol. Genet. (1999) [Pubmed]
  5. Molecular genetics of bipolar disorder. Kato, T. Neurosci. Res. (2001) [Pubmed]
  6. Exclusion of the Darier's disease gene, ATP2A2, as a common susceptibility gene for bipolar disorder. Jacobsen, N.J., Franks, E.K., Elvidge, G., Jones, I., McCandless, F., O'Donovan, M.C., Owen, M.J., Craddock, N. Mol. Psychiatry (2001) [Pubmed]
  7. Absence of a daily neuronal rhythm in the suprachiasmatic nuclei of acircadian Djungarian hamsters. Margraf, R.R., Puchalski, W., Lynch, G.R. Neurosci. Lett. (1992) [Pubmed]
  8. Serotonergic modulation of the hamster wheelrunning rhythm: response to lighting conditions and food deprivation. Morin, L.P., Blanchard, J. Brain Res. (1991) [Pubmed]
  9. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Hu, Z., Bonifas, J.M., Beech, J., Bench, G., Shigihara, T., Ogawa, H., Ikeda, S., Mauro, T., Epstein, E.H. Nat. Genet. (2000) [Pubmed]
  10. Plasticity and adaptation of Ca2+ signaling and Ca2+-dependent exocytosis in SERCA2(+/-) mice. Zhao, X.S., Shin, D.M., Liu, L.H., Shull, G.E., Muallem, S. EMBO J. (2001) [Pubmed]
  11. Calcium extrusion is critical for cardiac morphogenesis and rhythm in embryonic zebrafish hearts. Ebert, A.M., Hume, G.L., Warren, K.S., Cook, N.P., Burns, C.G., Mohideen, M.A., Siegal, G., Yelon, D., Fishman, M.C., Garrity, D.M. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  12. Mosaicism for ATP2A2 mutations causes segmental Darier's disease. Sakuntabhai, A., Dhitavat, J., Burge, S., Hovnanian, A. J. Invest. Dermatol. (2000) [Pubmed]
  13. Sarcoplasmic reticulum Ca2+ pumps in heart and diaphragm of cardiomyopathic hamster: effects of perindopril. Anger, M., Lambert, F., Chemla, D., Desche, P., Scalbert, E., Lompre, A.M., Lecarpentier, Y. Am. J. Physiol. (1995) [Pubmed]
  14. Melatonin secretion in the Mashona mole-rat, Cryptomys darlingi--influence of light on rhythmicity. Vasicek, C.A., Malpaux, B., Fleming, P.A., Bennett, N.C. Physiol. Behav. (2005) [Pubmed]
  15. Comparison of three different humidification systems during prolonged mechanical ventilation. Luchetti, M., Stuani, A., Castelli, G., Marraro, G. Minerva anestesiologica. (1998) [Pubmed]
  16. ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. Ruiz-Perez, V.L., Carter, S.A., Healy, E., Todd, C., Rees, J.L., Steijlen, P.M., Carmichael, A.J., Lewis, H.M., Hohl, D., Itin, P., Vahlquist, A., Gobello, T., Mazzanti, C., Reggazini, R., Nagy, G., Munro, C.S., Strachan, T. Hum. Mol. Genet. (1999) [Pubmed]
  17. Multiple effects of SERCA2b mutations associated with Darier's disease. Ahn, W., Lee, M.G., Kim, K.H., Muallem, S. J. Biol. Chem. (2003) [Pubmed]
  18. Darier's disease associated with bipolar affective disorder: a case report. Wang, S.L., Yang, S.F., Chen, C.C., Tsai, P.T., Chai, C.Y. The Kaohsiung journal of medical sciences. (2002) [Pubmed]
  19. Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region. Monk, S., Sakuntabhai, A., Carter, S.A., Bryce, S.D., Cox, R., Harrington, L., Levy, E., Ruiz-Perez, V.L., Katsantoni, E., Kodvawala, A., Munro, C.S., Burge, S., Larrègue, M., Nagy, G., Rees, J.L., Lathrop, M., Monaco, A.P., Strachan, T., Hovnanian, A. Am. J. Hum. Genet. (1998) [Pubmed]
  20. Activity of the hSPCA1 Golgi Ca2+ pump is essential for Ca2+-mediated Ca2+ response and cell viability in Darier disease. Foggia, L., Aronchik, I., Aberg, K., Brown, B., Hovnanian, A., Mauro, T.M. J. Cell. Sci. (2006) [Pubmed]
  21. Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. Dhitavat, J., Macfarlane, S., Dode, L., Leslie, N., Sakuntabhai, A., MacSween, R., Saihan, E., Hovnanian, A. J. Invest. Dermatol. (2003) [Pubmed]
  22. Calcium transport in human salivary glands: a proposed model of calcium secretion into saliva. Homann, V., Kinne-Saffran, E., Arnold, W.H., Gaengler, P., Kinne, R.K. Histochem. Cell Biol. (2006) [Pubmed]
  23. Identification of a new SERCA2 splice variant regulated during monocytic differentiation. Gélébart, P., Martin, V., Enouf, J., Papp, B. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
  24. Effects of drugs and anticytokine antibodies on expression of ATP2A2 and ATP2C1 in cultured normal human keratinocytes. Mayuzumi, N., Ikeda, S., Kawada, H., Ogawa, H. Br. J. Dermatol. (2005) [Pubmed]
  25. Keratinocytes cultured from patients with Hailey-Hailey disease and Darier disease display distinct patterns of calcium regulation. Leinonen, P.T., Myllylä, R.M., Hägg, P.M., Tuukkanen, J., Koivunen, J., Peltonen, S., Oikarinen, A., Korkiamäki, T., Peltonen, J. Br. J. Dermatol. (2005) [Pubmed]
  26. Effects of mutant and antisense RNA of phospholamban on SR Ca(2+)-ATPase activity and cardiac myocyte contractility. He, H., Meyer, M., Martin, J.L., McDonough, P.M., Ho, P., Lou, X., Lew, W.Y., Hilal-Dandan, R., Dillmann, W.H. Circulation (1999) [Pubmed]
  27. P160L mutation in the Ca(2+) ATPase 2A domain in a patient with severe Darier disease. Godic, A., Glavac, D., Korosec, B., Miljković, J., Potocnik, M., Kansky, A. Dermatology (Basel) (2004) [Pubmed]
  28. Organization of Ca2+ stores in myeloid cells: association of SERCA2b and the type-1 inositol-1,4,5-trisphosphate receptor. Favre, C.J., Jerström, P., Foti, M., Stendhal, O., Huggler, E., Lew, D.P., Krause, K.H. Biochem. J. (1996) [Pubmed]
  29. SR Ca(2+)-ATPase/phospholamban in cardiomyocyte function. Tada, M., Toyofuku, T. J. Card. Fail. (1996) [Pubmed]
  30. Molecular regulation of phospholamban function and gene expression. Tada, M., Yabuki, M., Toyofuku, T. Ann. N. Y. Acad. Sci. (1998) [Pubmed]
  31. Localization of intracellular Ca2+ stores in HeLa cells during infection with Chlamydia trachomatis. Majeed, M., Krause, K.H., Clark, R.A., Kihlström, E., Stendahl, O. J. Cell. Sci. (1999) [Pubmed]
  32. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Sudbrak, R., Brown, J., Dobson-Stone, C., Carter, S., Ramser, J., White, J., Healy, E., Dissanayake, M., Larrègue, M., Perrussel, M., Lehrach, H., Munro, C.S., Strachan, T., Burge, S., Hovnanian, A., Monaco, A.P. Hum. Mol. Genet. (2000) [Pubmed]
  33. Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus. Petek, E., Windpassinger, C., Mach, M., Rauter, L., Scherer, S.W., Wagner, K., Kroisel, P.M. Am. J. Med. Genet. A (2003) [Pubmed]
  34. Messenger RNA expression and immunological quantification of phospholamban and SR-Ca(2+)-ATPase in failing and nonfailing human hearts. Linck, B., Bokník, P., Eschenhagen, T., Müller, F.U., Neumann, J., Nose, M., Jones, L.R., Schmitz, W., Scholz, H. Cardiovasc. Res. (1996) [Pubmed]
  35. Distribution and isoform diversity of the organellar Ca2+ pumps in the brain. Baba-Aissa, F., Raeymaekers, L., Wuytack, F., Dode, L., Casteels, R. Mol. Chem. Neuropathol. (1998) [Pubmed]
  36. Expression of the sarco/endoplasmic reticulum calcium ATPase type 2 and 3 isoforms in normal skin and Darier's disease. Tavadia, S., Authi, K.S., Hodgins, M.B., Munro, C.S. Br. J. Dermatol. (2004) [Pubmed]
  37. Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary. Rácz, E., Csikós, M., Kornsée, Z., Horváth, A., Kárpáti, S. Exp. Dermatol. (2004) [Pubmed]
  38. Dissection of the functional differences between sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses. Dode, L., Andersen, J.P., Leslie, N., Dhitavat, J., Vilsen, B., Hovnanian, A. J. Biol. Chem. (2003) [Pubmed]
  39. Sarco(endo)plasmic reticulum Ca2+ ATPases (SERCA1 and -2) in human extraocular muscles. Kjellgren, D., Ryan, M., Ohlendieck, K., Thornell, L.E., Pedrosa-Domellöf, F. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
 
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