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    ATP2B2 ATPase plasma membrane Ca2+ transporting 2 [ Homo sapiens (human) ]

    Gene ID: 491, updated on 3-Dec-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.

    ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
    Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla ÁG, Jang SS, Juliá-Palacios N, Keren B, Kopajtich R, Lynch SA, Mignot C, Moorwood C, Neuhofer C, Nigro V, Oostra A, Prokisch H, Saillour V, Schuermans N, Torella A, Verloo P, Yazbeck E, Zollino M, Jech R, Winkelmann J, Necpal J, Calì T, Brini M, Zech M.

    12/21/2023
    A V1143F substitution in PMAC2 alters the binding of caslmodulin to the calmodulin-binding domain leading to impaired calcium signaling.

    A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia.
    Vicario M, Zanni G, Vallese F, Santorelli F, Grinzato A, Cieri D, Berto P, Frizzarin M, Lopreiato R, Zonta F, Ferro S, Sandre M, Marin O, Ruzzene M, Bertini E, Zanotti G, Brini M, Calì T, Carafoli E.

    09/7/2019
    PMCA2 loss plays a role in the ataxic phenotype, but can paradoxically also minimise calcium rises in cerebellar Purkinje neurons, thereby ensuring their resilience and survival.

    Survival strategies for mouse cerebellar Purkinje neurons lacking PMCA2.
    Roome CJ, Empson RM.

    02/23/2019
    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.

    PMCA2 pump mutations and hereditary deafness.
    Bortolozzi M, Mammano F.

    02/23/2019
    Loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

    De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
    Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM, Rotteveel LJC, Klein Wassink-Ruiter JS, Free RH, Maas SM, van de Kamp J, Merkus P, DOOFNL Consortium, Koole W, Feenstra I, Admiraal RJC, Lanting CP, Schraders M, Yntema HG, Pennings RJE, Kremer H., Free PMC Article

    02/16/2019
    PMCA2 regulates breast cancer cell proliferation and sensitivity to doxorubicin in basal cell carcinoma.

    The calcium pump plasma membrane Ca(2+)-ATPase 2 (PMCA2) regulates breast cancer cell proliferation and sensitivity to doxorubicin.
    Peters AA, Milevskiy MJ, Lee WC, Curry MC, Smart CE, Saunus JM, Reid L, da Silva L, Marcial DL, Dray E, Brown MA, Lakhani SR, Roberts-Thomson SJ, Monteith GR., Free PMC Article

    02/17/2018
    Cytoskeleton dynamics regulates plasma membrane PMCA2 activity.

    Cortical cytoskeleton dynamics regulates plasma membrane calcium ATPase isoform-2 (PMCA2) activity.
    Dalghi MG, Ferreira-Gomes M, Montalbetti N, Simonin A, Strehler EE, Hediger MA, Rossi JP.

    10/7/2017
    Data show that ATPase, calcium transporting, plasma membrane 2 protein (PMCA2) silencing augmented B-cell leukemia 2 family proteins (Bcl-2) inhibitor ABT-263-mediated MDA-MB-231 breast cancer cell death.

    PMCA2 silencing potentiates MDA-MB-231 breast cancer cell death initiated with the Bcl-2 inhibitor ABT-263.
    Curry M, Roberts-Thomson SJ, Monteith GR.

    06/24/2017
    NHERF1 acts with PMCA2 to regulate HER2 signaling and membrane retention in breast cancers

    The scaffolding protein NHERF1 regulates the stability and activity of the tyrosine kinase HER2.
    Jeong J, VanHouten JN, Kim W, Dann P, Sullivan C, Choi J, Sneddon WB, Friedman PA, Wysolmerski JJ., Free PMC Article

    06/24/2017
    PMCA2 interacts with HER2 in specific actin-rich membrane domains.

    PMCA2 regulates HER2 protein kinase localization and signaling and promotes HER2-mediated breast cancer.
    Jeong J, VanHouten JN, Dann P, Kim W, Sullivan C, Yu H, Liotta L, Espina V, Stern DF, Friedman PA, Wysolmerski JJ., Free PMC Article

    06/28/2016
    PMCA2b resulted in rapid and highly PMCA abundance-sensitive clearance of store-operated Ca2+ entry-mediated Ca2+ transients.

    Plasma membrane Ca²⁺-ATPases can shape the pattern of Ca²⁺ transients induced by store-operated Ca²⁺ entry.
    Pászty K, Caride AJ, Bajzer Ž, Offord CP, Padányi R, Hegedűs L, Varga K, Strehler EE, Enyedi A.

    11/21/2015
    SERCA and PMCA pump activities are strongly affected by the localization of F508del-CFTR protein.

    SERCA and PMCA pumps contribute to the deregulation of Ca2+ homeostasis in human CF epithelial cells.
    Philippe R, Antigny F, Buscaglia P, Norez C, Becq F, Frieden M, Mignen O.

    09/5/2015
    ATP2B2 might play a role in the etiology of autism in Chinese Han population.

    The evidence for association of ATP2B2 polymorphisms with autism in Chinese Han population.
    Yang W, Liu J, Zheng F, Jia M, Zhao L, Lu T, Ruan Y, Zhang J, Yue W, Zhang D, Wang L., Free PMC Article

    11/16/2013
    G293S and V586M mutations in the PMCA2 Calcium Transporting ATPase of the stereocilia are associated with deafness. (Review)

    Hair cells, plasma membrane Ca²⁺ ATPase and deafness.
    Giacomello M, De Mario A, Primerano S, Brini M, Carafoli E.

    07/21/2012
    The human mutant of PMCA2 exacerbated the deafness produced by a cadherin 23 mutation. The human mutant failed to impair the Ca(2+) ejection by the pump.

    Mutations in PMCA2 and hereditary deafness: a molecular analysis of the pump defect.
    Giacomello M, De Mario A, Lopreiato R, Primerano S, Campeol M, Brini M, Carafoli E.

    03/24/2012
    These results provide converging evidence for an association between ATP2B2 gene variants and autism in male subjects

    Converging evidence for an association of ATP2B2 allelic variants with autism in male subjects.
    Carayol J, Sacco R, Tores F, Rousseau F, Lewin P, Hager J, Persico AM.

    02/4/2012
    these data suggest that full polarization is a prerequisite for proper positioning of the PMCA2w variants in the apical membrane domain of polarized cells.

    Apical localization of PMCA2w/b is enhanced in terminally polarized MDCK cells.
    Antalffy G, Caride AJ, Pászty K, Hegedus L, Padanyi R, Strehler EE, Enyedi A., Free PMC Article

    09/10/2011
    It appears that Ca extrusion via the sarcolemmal Ca ATPase occurs only at the t-tubules, and is not regulated by basal PKA activity.

    Ca efflux via the sarcolemmal Ca ATPase occurs only in the t-tubules of rat ventricular myocytes.
    Chase A, Orchard CH.

    05/14/2011
    Report a novel interaction between endogenous plasma membrane calcium ATPase (PMCA) and eNOS in endothelial cells. PMCA may negatively modulate eNOS activity, and NO-dependent signal transduction pathways.

    Endothelial nitric oxide synthase activity is inhibited by the plasma membrane calcium ATPase in human endothelial cells.
    Holton M, Mohamed TM, Oceandy D, Wang W, Lamas S, Emerson M, Neyses L, Armesilla AL., Free PMC Article

    11/6/2010
    Apical scaffolding protein NHERF2 modulates the localization of alternatively spliced plasma membrane Ca2+ pump 2B variants in polarized epithelial cells.

    Apical scaffolding protein NHERF2 modulates the localization of alternatively spliced plasma membrane Ca2+ pump 2B variants in polarized epithelial cells.
    Padányi R, Xiong Y, Antalffy G, Lór K, Pászty K, Strehler EE, Enyedi A., Free PMC Article

    11/6/2010
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article

    09/15/2010
    Observational study of gene-disease association. (HuGE Navigator)

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium., Free PMC Article

    09/15/2010
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches.
    Ikeda M, Tomita Y, Mouri A, Koga M, Okochi T, Yoshimura R, Yamanouchi Y, Kinoshita Y, Hashimoto R, Williams HJ, Takeda M, Nakamura J, Nabeshima T, Owen MJ, O'Donovan MC, Honda H, Arinami T, Ozaki N, Iwata N.

    12/2/2009
    The deaf-waddler isoform of PMCA2, operating at 30% efficacy, showed a significantly decreased ability to rescue the Ca(2+) loading of cells expressing TRPML3(A419P).

    Life and death of sensory hair cells expressing constitutively active TRPML3.
    Grimm C, Jörs S, Heller S., Free PMC Article

    01/21/2010
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