KCNE gene family: From basic functions to diseases

Figures

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  Figure 1. Schematic diagram of ion transport pathways in cerebrospinal fluid epithelial cells. KCNE2 can form a complex with KCNQ1 and KCNA3, which is responsible for transferring potassium ions into the cerebrospinal fluid. Additionally, KCNE2 can also form a complex with KCNQ and SMIT1, preventing SMIT1 from transferring inositol from the cerebrospinal fluid into the cell. When the KCNE2 gene is knocked out, there is abnormal transport of potassium ions from inside the cell to the blood, accompanied by an abnormal accumulation of chloride ions in the cerebrospinal fluid. The mechanism underlying which ion channels are involved in chloride ion transport remains unclear. Furthermore, with the knockout of the KCNE2 gene, there is a significant decrease in the inositol concentration in the cerebrospinal fluid, leading to increased susceptibility to epilepsy.

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  Figure 2. Schematic diagram of KCNE1 regulation in renal proximal tubular epithelial cells. KCNE1 can form a complex with KCNQ1 to secrete potassium ions from inside the cell into the renal tubule lumen. When KCNE1 is knocked out, the loss of sodium ions, chloride ions, and glucose in the urine increases. However, inhibiting the KCNQ1 channel does not significantly disrupt ion secretion, suggesting that KCNE1 may exert its effects by regulating other ion channels.

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  Figure 3. Knocking out different KCNE genes may lead to multisystem or tissue diseases throughout the body. Knockout of the KCNE gene may cause cardiac conduction abnormalities and congenital long QT syndrome, whereas deletion of the KCNE2 gene may result in abnormal gastric acid secretion and associated gastrointestinal issues. Additionally, the knockout of other KCNE genes could be linked to respiratory dysfunction or neurological disorders. As shown in the figure, the wide-ranging impact of these gene knockouts on multiple systems underscores the critical role of KCNE genes in maintaining normal physiological function.