| An arginine/lysine-based motif ([R/K](S)[R/K][R/K]) in the proximal C-terminus regulating the endoplasmic reticulum (ER) export of KCNE1 and KCNE2. | A conserved arginine/lysine-based motif promotes ER export of KCNE1 and KCNE2 to regulate KCNQ1 channel activity.
Hu B, Zeng WP, Li X, Al-Sheikh U, Chen SY, Ding J., Free PMC Article | 07/18/2020 |
| KCNE2 rs8134775 was associated with a decreased atrial fibrillation (AF) risk in the Chinese Han population in the allele model. Minor allele T of GJA5 rs35594137 was associated with a decreased AF risk, and the minor allele G of KCNJ2 rs8079702 was associated with an increased AF risk in the recessive models. Results suggest that KCNE2, KCNJ2, and GJA5 influence the development of AF in the Chinese Han population. | The research of ion channel-related gene polymorphisms with atrial fibrillation in the Chinese Han population.
Liu X, Li Y, Zhang H, Ji Y, Zhao Z, Wang C., Free PMC Article | 07/4/2020 |
| In vitro functional assays showed miR-584-5p depletion decreased HCC cell proliferation, cell migration, and cell invasion. Moreover, miR-584-5p functions by directly targeting KCNE2, and it in turn, mediates the effects of miR-584-5p on HCC cell behaviors. | miR-584-5p regulates hepatocellular carcinoma cell migration and invasion through targeting KCNE2.
Wei H, Wang J, Xu Z, Lu Y, Wu X, Zhuo C, Tan C, Tang Q, Pu J., Free PMC Article | 05/30/2020 |
| On the basis of clinical phenotype, the high allelic frequencies of LQT6 mutations in the Exome Aggregation Consortium database, and absence of previous documentation of genotype-phenotype segregation, our findings suggest that many KCNE2 variants, and perhaps all, have been erroneously designated as LQTS-causative mutations. Instead, KCNE2 variants may confer proarrhythmic susceptibility when provoked by additional envir | Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?
Roberts JD, Krahn AD, Ackerman MJ, Rohatgi RK, Moss AJ, Nazer B, Tadros R, Gerull B, Sanatani S, Wijeyeratne YD, Baruteau AE, Muir AR, Pang B, Cadrin-Tourigny J, Talajic M, Rivard L, Tester DJ, Liu T, Whitman IR, Wojciak J, Conacher S, Gula LJ, Leong-Sit P, Manlucu J, Green MS, Hamilton R, Healey JS, Lopes CM, Behr ER, Wilde AA, Gollob MH, Scheinman MM. | 09/23/2017 |
| These results demonstrate that KCNE2 is required for normal beta-cell electrical activity and insulin secretion, and that Kcne2 deletion causes T2DM. | Kcne2 deletion impairs insulin secretion and causes type 2 diabetes mellitus.
Lee SM, Baik J, Nguyen D, Nguyen V, Liu S, Hu Z, Abbott GW. | 09/16/2017 |
| The identification of Filamin C as a novel KCNE2 ligand not only enhances current understanding of ion channel function and regulation, but also provides valuable information about possible pathways likely to be involved in long-QT syndrome pathogenesis | Filamin C: a novel component of the KCNE2 interactome during hypoxia.
Neethling A, Mouton J, Loos B, Corfield V, de Villiers C, Kinnear C., Free PMC Article | 12/17/2016 |
| KCNE2 has been widely studied since its role in the heart was discovered; it is association with inherited and acquired human Long QT syndrome; physiological analyses together with genetics studies have uncovered a startling array of functions for KCNE2, in the heart, stomach, thyroid and choroid plexus. [Review] | The KCNE2 K⁺ channel regulatory subunit: Ubiquitous influence, complex pathobiology.
Abbott GW., Free PMC Article | 10/24/2015 |
| Women with elevated BMI have enhanced hERG activity as a result of low beta-inhibitory protein expression, which likely contributes to weak contractions and poor labour outcomes. | Diminished hERG K+ channel activity facilitates strong human labour contractions but is dysregulated in obese women.
Parkington HC, Stevenson J, Tonta MA, Paul J, Butler T, Maiti K, Chan EC, Sheehan PM, Brennecke SP, Coleman HA, Smith R. | 07/25/2015 |
| M54T MiRP1 mutation axecerbate drug-induced long QT syndrome and arrhythmia. | In silico screening of the impact of hERG channel kinetic abnormalities on channel block and susceptibility to acquired long QT syndrome.
Romero L, Trenor B, Yang PC, Saiz J, Clancy CE., Free PMC Article | 01/17/2015 |
| The effect of KCNE2 mutations on KV7.1 was abolished in the presence of the major IKs beta-subunit KCNE1, when coexpressed in a 1:1:1 molar ratio. | Gain-of-function mutations in potassium channel subunit KCNE2 associated with early-onset lone atrial fibrillation.
Nielsen JB, Bentzen BH, Olesen MS, David JP, Olesen SP, Haunsø S, Svendsen JH, Schmitt N. | 12/20/2014 |
| Mutations in KCNE2 has been shown to cause familial atrial fibrillation. | Single nucleotide polymorphisms in proximity to K-channel genes are associated with decreased longitudinal QTc variance.
Mints Y, Zipunnikov V, Khurram I, Calkins H, Nazarian S., Free PMC Article | 11/29/2014 |
| The transmembrane domains (TMDs) of KCNE1 and KCNE2 were illustrated to associate with the KCNQ1 channel in different modes. | Differential modulations of KCNQ1 by auxiliary proteins KCNE1 and KCNE2.
Li P, Liu H, Lai C, Sun P, Zeng W, Wu F, Zhang L, Wang S, Tian C, Ding J., Free PMC Article | 08/30/2014 |
| study concluded that the variants in KCNQ1, KCNH2, KCNE1 and KCNE2 genes may be correlated with the occurrence of part of sudden unexplained nocturnal death syndrome cases in southern China | Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population.
Liu C, Zhao Q, Su T, Tang S, Lv G, Liu H, Quan L, Cheng J. | 07/26/2014 |
| Subjects with LQT-PM may have longer QTc intervals at rest and at peak exercise and all phases of the recovery period compared to controls. Those with homozygous SNPs (KCNE2 1%) had longer resting QTc intervals when compared to heterozygotes. | Do LQTS gene single nucleotide polymorphisms alter QTc intervals at rest and during exercise stress testing?
Aziz PF, Wieand TS, Ganley J, Henderson J, McBride M, Shah MJ., Free PMC Article | 02/22/2014 |
| Case Report: reduced expression of KCNE2 in surgically excised tissue from human gastric cancer associated with gastritis cystica profunda. | Gastric adenocarcinoma arising in gastritis cystica profunda presenting with selective loss of KCNE2 expression.
Kuwahara N, Kitazawa R, Fujiishi K, Nagai Y, Haraguchi R, Kitazawa S., Free PMC Article | 12/7/2013 |
| KCNE1 and KCNE2, auxiliary subunits of voltage-gated potassium channels, undergo sequential cleavage mediated by either alpha-secretase and presenilin(PS)/gamma-secretase or BACE1 and PS/gamma-secretase in cells. | BACE1 and presenilin/γ-secretase regulate proteolytic processing of KCNE1 and 2, auxiliary subunits of voltage-gated potassium channels.
Sachse CC, Kim YH, Agsten M, Huth T, Alzheimer C, Kovacs DM, Kim DY., Free PMC Article | 08/3/2013 |
| The known interactions of the KCNE2 protein and the resulting functional effects, the effects of mutations in KCNE2 and their clinical role are discussed. [review] | The voltage-gated channel accessory protein KCNE2: multiple ion channel partners, multiple ways to long QT syndrome.
Eldstrom J, Fedida D. | 08/11/2012 |
| KCNE2 can modulate its partner channel function not only by altering channel conductance and/or gating kinetics, but also by affecting protein stability. | KCNE2 protein is more abundant in ventricles than in atria and can accelerate hERG protein degradation in a phosphorylation-dependent manner.
Zhang M, Wang Y, Jiang M, Zankov DP, Chowdhury S, Kasirajan V, Tseng GN., Free PMC Article | 04/21/2012 |
| Backbone assignments of most MiRP1 residues were achieved through a series of triple resonance NMR experiments. | Expression, purification, detergent screening and solution NMR backbone assignment of the human potassium channel accessory subunit MiRP1.
Chen L, Lai C, Lai J, Tian C. | 06/4/2011 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Domperidone treatment for gastroparesis: demographic and pharmacogenetic characterization of clinical efficacy and side-effects.
Parkman HP, Jacobs MR, Mishra A, Hurdle JA, Sachdeva P, Gaughan JP, Krynetskiy E. | 12/5/2010 |
| Results suggest KCNE2 disruption as a possible risk factor for gastric neoplasia. | Targeted deletion of Kcne2 causes gastritis cystica profunda and gastric neoplasia.
Roepke TK, Purtell K, King EC, La Perle KM, Lerner DJ, Abbott GW., Free PMC Article | 10/30/2010 |
| KCNE2 plays a role in normal function of native I(to) channel complex in human heart, M54T and I57T variants lead to gain of function of I(to), contributing to generating potential arrhythmogeneity and pathogenesis for inherited fatal rhythm disorders. | KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders.
Wu J, Shimizu W, Ding WG, Ohno S, Toyoda F, Itoh H, Zang WJ, Miyamoto Y, Kamakura S, Matsuura H, Nademanee K, Brugada J, Brugada P, Brugada R, Vatta M, Towbin JA, Antzelevitch C, Horie M., Free PMC Article | 05/31/2010 |
| in cardiac myocytes the IKs current amplitude is under dynamic control by the availability of KCNE2 subunits in the cell membrane | Dynamic partnership between KCNQ1 and KCNE1 and influence on cardiac IKs current amplitude by KCNE2.
Jiang M, Xu X, Wang Y, Toyoda F, Liu XS, Zhang M, Robinson RB, Tseng GN., Free PMC Article | 01/21/2010 |
| Human MiRP1 slowed Kv2.1 activation and deactivation twofold. Compared to wild-type human MiRP1-Kv2.1 complexes, channels formed with M54T- or I57T-MiRP1 showed greatly slowed activation (tenfold and fivefold, respectively). | Regulation of the Kv2.1 potassium channel by MinK and MiRP1.
McCrossan ZA, Roepke TK, Lewis A, Panaghie G, Abbott GW., Free PMC Article | 01/21/2010 |
| KCNE variants reveal a critical role of the beta subunit carboxyl terminus in PKA-dependent regulation of the IKs potassium channel, KCNQ1. | KCNE variants reveal a critical role of the beta subunit carboxyl terminus in PKA-dependent regulation of the IKs potassium channel.
Kurokawa J, Bankston JR, Kaihara A, Chen L, Furukawa T, Kass RS., Free PMC Article | 01/21/2010 |