Dec 25, 2024 · 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 …

Feb 8, 2025 · 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.

Nov 15, 2022 · 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。

May 15, 2012 · 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.

Apr 4, 2024 · 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.

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 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits. Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.