Ask about this productRelated genes to: KCNIP2 antibody
- Gene:
- KCNIP2 NIH gene
- Name:
- potassium voltage-gated channel interacting protein 2
- Previous symbol:
- -
- Synonyms:
- KCHIP2
- Chromosome:
- 10q24.32
- Locus Type:
- gene with protein product
- Date approved:
- 2001-05-23
- Date modifiied:
- 2016-02-04
Related products to: KCNIP2 antibody
Related articles to: KCNIP2 antibody
- Sudden unexpected death in epilepsy (SUDEP) is one of the most frequent causes of death in patients with epilepsy, though the pathogenesis of SUDEP has not been well elucidated. Here, we report novel heterozygous KCND3 variants, p.V401L and p.V401M, identified in young patients with refractory epilepsy (RE) and neurodevelopmental disorders, and the functional properties of these variants. We aimed to investigate the electrophysiological changes in de novo KCND3 variants and analyse the pharmacological effects of quinidine on these variants. Chinese hamster ovary (CHO) cells were transiently co-transfected with wild-type (WT) and/or variant KCND3 and Kcnip2. Transient outward potassium currents (I) were recorded using the whole-cell patch-clamp method. The inhibitory effect of quinidine on I was evaluated. In electrophysiological analysis, CHO cells expressing the variant channels showed a significant increase in current density compared with those expressing WT channels. The I activation curves were shifted significantly to the left, and significantly slower inactivation time constants were observed in both variant channels. Recovery from inactivation of the variant channels was significantly slower than that of WT. Quinidine suppressed I in a concentration-dependent manner and accelerated the slow inactivation of variant channels. In conclusion, de novo KCND3 variants identified in patients with RE and neurodevelopmental disorders showed gain and loss of function effects on I. These patients may be at risk of developing early repolarization syndrome, leading to SUDEP. Increased I was suppressed by quinidine, suggesting that it may be an effective therapy for RE and possibly for preventing SUDEP. - Source: PubMed
Publication date: 2025/11/05
Tserenlkham ByambajavTakayama KoichiroZankov Dimitar PGallentine William BCuddapah Vishnu AnandCohen StaceySonoda KeikoHorie MinoruOhno Seiko - : Gliomas are complex and heterogeneous brain tumors characterized by an unfavorable clinical course and a fatal prognosis, which can be improved by an early determination of tumor kind. Here, we developed explainable machine learning (ML) models for classifying three major glioma subtypes (astrocytoma, oligodendroglioma, and glioblastoma) and predicting survival rates based on RNA-seq data. : We analyzed publicly available datasets and applied feature selection techniques to identify key biomarkers. Using various ML models, we performed classification and survival analysis to develop robust predictive models. The best-performing models were then interpreted using Shapley additive explanations (SHAP). : Thirteen key genes (, , , , , , , , , , , , and ) proved to be closely associated with glioma subtypes as well as survival. Support Vector Machine (SVM) turned out to be the optimal classification model with the balanced accuracy of 0.816 and the area under the receiver operating characteristic curve (AUC) of 0.896 for the test datasets. The Case-Control Cox regression model (CoxCC) proved best for predicting survival with the Harrell's C-index of 0.809 and 0.8 for the test datasets. Using SHAP we revealed the gene expression influence on the outputs of both models, thus enhancing the transparency of the prediction generation process. : The results indicated that the developed models could serve as a valuable practical tool for clinicians, assisting them in diagnosing and determining optimal treatment strategies for patients with glioma. - Source: PubMed
Publication date: 2025/08/09
Vershinina OlgaTurubanova VictoriaKrivonosov MikhailTrukhanov ArseniyIvanchenko Mikhail - KCNIP2 (Kv Channel Interacting Protein 2), a regulatory protein of potassium channels, has been the focus of research in the context of cardiac electrophysiology and cardiac diseases. Recent studies have revealed that KCNIP2 expression has a significant impact on tumourigenesis. This review discusses the structure and function of KCNIP2, its involvement in cardiac electrical activity, and recent advancements in understanding its role in cardiac diseases, including myocardial hypertrophy, heart failure, and arrhythmias. It also reviews recent research on KCNIP2's role in tumors, offering insights into the molecular mechanisms underlying. - Source: PubMed
Publication date: 2025/06/07
Wang YihaoWang RuiZhang WeisongGuo RongqiLi YangyangWang HaoLi XiaSong Jianxiang - Decrease in repolarizing K+ currents, particularly the fast component of transient outward K+ current (Ito,f), prolongs action potential duration (APD) and predisposes the heart to ventricular arrhythmia during cardiac hypertrophy. Histone deacetylases (HDACs) have been suggested to participate in the development of cardiac hypertrophy, and Class I HDAC inhibition has been found to attenuate pathological remodelling. This study investigated the potential therapeutic effects of HDAC2 on ventricular arrhythmia in pressure overload-induced cardiac hypertrophy. - Source: PubMed
Liu WenjuanLiu JianpingWang GangCheng WanwenGong HaochenSong YujuanSong MingZhuge YixinLi YingLiu Jie - Obesity is associated with abnormal repolarization manifested by QT interval prolongation, and oxidative stress is an important link between obesity and arrhythmias. However, the underlying electrophysiological and molecular mechanisms remain unclear. The aim of this study is to evaluate the role of obesity in potassium current in ventricular myocytes and the potential mechanism of NADPH oxidase 2 (Nox2). We investigated the effect of Nox2 on cardiac repolarization without compromising its expression and function in other systems using mice with conditional cardiac-specific deletions of Nox2 (knockout [KO]). Wild-type, KO, and Flox littermate mice were randomized to either the control or high-fat diet (HFD) groups. Surface electrocardiograms were recorded to analyze repolarization in vivo. Whole-cell patch-clamp techniques were used to evaluate the electrophysiological phenotype of isolated myocytes in vitro. Western blotting was performed to assess protein expression levels. Compared with the control mice, the HFD group had a prolonged QTc. The consequences of an HFD were not attributed to delayed rectifier K+ and inward-rectifier K+ currents but were associated with reduced peak outward KV and fast transient outward K+ currents. Downregulated expression of KV4.2 and KChIP2, comprising functional Ito channel pore-forming (α) and accessory (β) subunits, was detected in HFD mice. Nox2-KO reversed the effect of obesity on Ipeak and Ito amplitude. Our data demonstrate that obesity mediates impaired cardiac repolarization in mice, manifested by QTc at the whole organism level and action potential duration at the cellular level, and correlated with Nox2. The electrophysiological and molecular aspects of this phenomenon were mediated by repolarizing outward K+ currents. - Source: PubMed
Publication date: 2024/12/31
Li BinChen YatingZhao MaoxiangChen ZhijieLin ZhuhuiLiu JieWang XuepingZhang JianchengLi Yang