Property Summary

NCBI Gene PubMed Count 26
PubMed Score 328.63
PubTator Score 43.24

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytoma -1.500 7.1e-24
posterior fossa group B ependymoma -1.700 1.1e-09
oligodendroglioma -1.600 1.0e-18
glioblastoma -1.900 8.6e-12
sonic hedgehog group medulloblastoma -2.100 1.1e-07
atypical teratoid/rhabdoid tumor -1.800 1.2e-09
medulloblastoma, large-cell -1.300 3.5e-04
primitive neuroectodermal tumor -1.600 1.7e-04
pediatric high grade glioma -1.800 3.7e-08
pilocytic astrocytoma -2.200 9.3e-10
subependymal giant cell astrocytoma -2.534 9.4e-03
ovarian cancer 1.400 1.1e-07
psoriasis -2.200 2.9e-18

Gene RIF (10)

PMID Text
26351028 Different mutations (KCNJ5, ATP1A1, ATP2B3, and CACNA1D) are found in different aldosterone-producing nodules from the same adrenal, suggesting that somatic mutations are independent events triggered by mechanisms that remain to be identified.
26285814 Mutations in ATP2B3 gene is associated with aldosterone-producing adenomas.
25953895 Novel PMCA3 missense mutation co-occurring with a heterozygous mutation in LAMA1 impaired cellular Ca2+ homeostasis in patients with Cerebellar Ataxia.
24179102 Somatic mutations found in KCNJ5, ATP1A1, and ATP2B3 appear to be the driving forces for a higher aldosterone production and proliferations of glomerulosa cells.
24082052 ATP2B3 mutations are present in aldosterone-producineg adenomas that result in an increase in CYP11B2 gene expression and may account for the dysregulated aldosterone production in a subset of patients with sporadic primary aldosteronism.
23416519 Somatic mutations in ATP2B3 gene leads to aldosterone-producing adenomas and secondary hypertension.
22912398 Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.
19733838 Observational study of gene-disease association. (HuGE Navigator)
17336174 Expression of the placental calcium transporter PMCA3 mRNA predicts neonatal whole body bone mineral content
12784250 role in the intracellular Ca(2+) extrusion of syncytiotrophoblast-like structure originating from the differentiation of cultured trophoblast cells isolated from human term placenta

AA Sequence

MGDMANSSIEFHPKPQQQRDVPQAGGFGCTLAELRTLMELRGAEALQKIEEAYGDVSGLCRRLKTSPTEG      1 - 70
LADNTNDLEKRRQIYGQNFIPPKQPKTFLQLVWEALQDVTLIILEVAAIVSLGLSFYAPPGEESEACGNV     71 - 140
SGGAEDEGEAEAGWIEGAAILLSVICVVLVTAFNDWSKEKQFRGLQSRIEQEQKFTVIRNGQLLQVPVAA    141 - 210
LVVGDIAQVKYGDLLPADGVLIQANDLKIDESSLTGESDHVRKSADKDPMLLSGTHVMEGSGRMVVTAVG    211 - 280
VNSQTGIIFTLLGAGGEEEEKKDKKGKQQDGAMESSQTKAKKQDGAVAMEMQPLKSAEGGEMEEREKKKA    281 - 350
NAPKKEKSVLQGKLTKLAVQIGKAGLVMSAITVIILVLYFVIETFVVEGRTWLAECTPVYVQYFVKFFII    351 - 420
GVTVLVVAVPEGLPLAVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTTNRMTVVQSYL    421 - 490
GDTHYKEIPAPSALTPKILDLLVHAISINSAYTTKILPPEKEGALPRQVGNKTECALLGFVLDLKRDFQP    491 - 560
VREQIPEDKLYKVYTFNSVRKSMSTVIRMPDGGFRLFSKGASEILLKKCTNILNSNGELRGFRPRDRDDM    561 - 630
VRKIIEPMACDGLRTICIAYRDFSAGQEPDWDNENEVVGDLTCIAVVGIEDPVRPEVPEAIRKCQRAGIT    631 - 700
VRMVTGDNINTARAIAAKCGIIQPGEDFLCLEGKEFNRRIRNEKGEIEQERLDKVWPKLRVLARSSPTDK    701 - 770
HTLVKGIIDSTTGEQRQVVAVTGDGTNDGPALKKADVGFAMGIAGTDVAKEASDIILTDDNFTSIVKAVM    771 - 840
WGRNVYDSISKFLQFQLTVNVVAVIVAFTGACITQDSPLKAVQMLWVNLIMDTFASLALATEPPTESLLL    841 - 910
RKPYGRDKPLISRTMMKNILGHAVYQLAIIFTLLFVGELFFDIDSGRNAPLHSPPSEHYTIIFNTFVMMQ    911 - 980
LFNEINARKIHGERNVFDGIFSNPIFCTIVLGTFGIQIVIVQFGGKPFSCSPLSTEQWLWCLFVGVGELV    981 - 1050
WGQVIATIPTSQLKCLKEAGHGPGKDEMTDEELAEGEEEIDHAERELRRGQILWFRGLNRIQTQIRVVKA   1051 - 1120
FRSSLYEGLEKPESKTSIHNFMATPEFLINDYTHNIPLIDDTDVDENEERLRAPPPPSPNQNNNAIDSGI   1121 - 1190
YLTTHVTKSATSSVFSSSPGSPLHSVETSL                                           1191 - 1220
//

Text Mined References (28)

PMID Year Title
26351028 2015 Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma.
26285814 2015 Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas.
25953895 2015 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 1? Mutations.
24769233 2014 Proteomic analysis of cerebrospinal fluid extracellular vesicles: a comprehensive dataset.
24179102 2014 Complementary somatic mutations of KCNJ5, ATP1A1, and ATP2B3 in sporadic aldosterone producing adrenal adenomas.
24082052 2014 Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.
23416519 2013 Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
22912398 2012 Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.
19733838 2009 Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17336174 2007 Placental calcium transporter (PMCA3) gene expression predicts intrauterine bone mineral accrual.
15772651 2005 The DNA sequence of the human X chromosome.
15101689 2004 Calcium pumps of plasma membrane and cell interior.
15071553 2004 Biology, structure and mechanism of P-type ATPases.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12784250 2003 Expression and role of calcium-ATPase pump and sodium-calcium exchanger in differentiated trophoblasts from human term placenta.
12763866 2003 Characterization of PISP, a novel single-PDZ protein that binds to all plasma membrane Ca2+-ATPase b-splice variants.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11152753 2001 Role of alternative splicing in generating isoform diversity among plasma membrane calcium pumps.
10854409 2000 Comparative genome sequence analysis of the Bpa/Str region in mouse and Man.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8765088 1996 Primary structure of human plasma membrane Ca(2+)-ATPase isoform 3.
8687195 1996 X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq.
8634322 1996 Structural organization, ion transport, and energy transduction of P-type ATPases.
8245032 1993 Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes.
8187550 1994 Localization of two genes encoding plasma membrane Ca2+ ATPases isoforms 2 (ATP2B2) and 3 (ATP2B3) to human chromosomes 3p26-->p25 and Xq28, respectively.
7989379 1994 Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes.
1531651 1992 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.