Gene Review:
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, ...
Baba-Aissa,
Raeymaekers,
Wuytack,
Dode,
Casteels,
Tada,
Yabuki,
Toyofuku,
Kato,
Majeed,
Krause,
Clark,
Kihlström,
Stendahl,
Godic,
Glavac,
Korosec,
Miljković,
Potocnik,
Kansky,
Dode,
Andersen,
Leslie,
Dhitavat,
Vilsen,
Hovnanian,
Petek,
Windpassinger,
Mach,
Rauter,
Scherer,
Wagner,
Kroisel,
Tavadia,
Authi,
Hodgins,
Munro,
Rácz,
Csikós,
Kornsée,
Horváth,
Kárpáti,
Mayuzumi,
Ikeda,
Kawada,
Ogawa,
- 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)
- 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)
- 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)
- 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)
- Molecular genetics of bipolar disorder. Kato, T. Neurosci. Res. (2001)
- 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)
- 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)
- Serotonergic modulation of the hamster wheelrunning rhythm: response to lighting conditions and food deprivation. Morin, L.P., Blanchard, J. Brain Res. (1991)
- 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)
- 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)
- 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)
- Mosaicism for ATP2A2 mutations causes segmental Darier's disease. Sakuntabhai, A., Dhitavat, J., Burge, S., Hovnanian, A. J. Invest. Dermatol. (2000)
- 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)
- 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)
- Comparison of three different humidification systems during prolonged mechanical ventilation. Luchetti, M., Stuani, A., Castelli, G., Marraro, G. Minerva anestesiologica. (1998)
- 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)
- Multiple effects of SERCA2b mutations associated with Darier's disease. Ahn, W., Lee, M.G., Kim, K.H., Muallem, S. J. Biol. Chem. (2003)
- 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)
- 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)
- 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)
- 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)
- 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)
- Identification of a new SERCA2 splice variant regulated during monocytic differentiation. Gélébart, P., Martin, V., Enouf, J., Papp, B. Biochem. Biophys. Res. Commun. (2003)
- 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)
- 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)
- 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)
- 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)
- 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)
- SR Ca(2+)-ATPase/phospholamban in cardiomyocyte function. Tada, M., Toyofuku, T. J. Card. Fail. (1996)
- Molecular regulation of phospholamban function and gene expression. Tada, M., Yabuki, M., Toyofuku, T. Ann. N. Y. Acad. Sci. (1998)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)