2024年12月25日 · KCNJ2 (Potassium Inwardly Rectifying Channel Subfamily J Member 2) is a Protein Coding gene. Diseases associated with KCNJ2 include Andersen Cardiodysrhythmic Periodic Paralysis and Short Qt Syndrome 3. Among its related pathways are Inwardly rectifying K+ channels and Cardiac conduction.

该基因编码的蛋白是一种完整的膜蛋白和内向整流型钾通道。 编码的蛋白质更倾向于让钾流入细胞而不是流出细胞，可能参与建立神经元和肌肉组织的动作电位波形和兴奋性。 该基因的突变与安德森综合症有关，安德森综合症的特征是周期性麻痹、心律失常和畸形特征。 [RefSeq 提供，2008 年 7 月] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses.

The KCNJ2 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged potassium ions out of cells, play key roles in a cell's ability to generate and transmit electrical signals.

Mutation-positive rates of KCNJ2 were 75% in typical ATS, 71% in cardiac phenotype alone, 100% in periodic paralysis, and 7% in CPVT. KCNJ2-D172N mutation leads to accelerated ventricular repolarization and QT interval shortening, facilitating initiation and maintenance of …

2025年2月8日 · The total Kcnj2 (gene for the Kir2.1 potassium channel) mRNA was reduced in Huntington disease skeletal muscle. miR-26 controls the expression of KCNJ2 and may have a role in atrial fibrillation; Stronger expressions of SCN5a, SCN1b and Kir2.1 were observed in ventricular-like and atrial-like cells compared to that of pacemaker-like cardiomyocytes.

2022年11月15日 · 通过绘制 "细胞钾离子平衡"中的基因图谱，他们注意到Kcnj2（编码内向整流K+通道Kir2.1）表达急剧升高。 接着，他们使用全细胞膜片钳记录了Kir2.1 通道活动，并进一步探究了Kcnj2的转录升高与高K+引发的TAM适应之间是否存在任何功能上的关联。

2024年4月4日 · Using genome-wide CRISPR interference screening, we identified a mechanosensory channel, KCNJ2, whose inhibition potently mitigated neurodegenerative processes in vitro and in vivo, including in C9ORF72 ALS/FTD organoids.

2012年5月15日 · Mutations of KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, cause Andersen-Tawil syndrome (ATS), a disease exhibiting ventricular arrhythmia, periodic paralysis, and dysmorphic features.

Clinical resource with information about KCNJ2, A common variant near the KCNJ2 gene is associated with T-peak to T-end interval., A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis., Andersen Tawil syndrome, Atrial fibrillation, familial, 9, Common variants at ten ...

KCNJ2/Kir2.1 modulates cell growth and drug resistance by regulating MRP1/ABCC1 expression and is simultaneously regulated by the Ras/MAPK pathway and miR-7. KCNJ2/Kir2.1 may be a prognostic predictor and a potentially novel target for interfering with chemoresistance in SCLC.