Synpo2l-flox Mouse

Synpo2l, or synaptopodin 2-like protein, is localized in the sarcomere of cardiomyocytes and is involved in heart morphogenesis. It contributes to actin bundle formation in cardiomyocytes by directly binding to α-actinin, which is crucial for sarcomere formation and maintenance [5].

In terms of diseases, multiple genome-wide association studies (GWAS) have linked Synpo2l to atrial fibrillation (AF). A specific splice site variant in Synpo2l was associated with an increased risk of AF [3]. Also, a missense variant in Synpo2l (rs3812629) at a known AF susceptibility locus showed a significant association with AF, though its causal relationship requires further evaluation [4]. Moreover, Synpo2l is among the genes identified in the GWAS meta-analysis of heart failure, suggesting its role in the pathogenesis of heart failure [2]. In colorectal cancer, Synpo2l is a core gene regulated by m6A. Mettl16 can regulate its mRNA stability, and Synpo2l promotes cancer cell lung metastasis by regulating COL10A1 secretion and attracting cancer-associated fibroblasts [1].

In conclusion, Synpo2l plays essential roles in cardiac structural development and function, with its dysfunction potentially contributing to atrial fibrillation and heart failure. In colorectal cancer, it is involved in the metastatic process. Studies on Synpo2l, especially through genetic models, help in understanding the molecular mechanisms of these diseases and may provide potential therapeutic targets.