Pkd2l2, a member of the polycystic kidney disease (PKD) gene family in mammals, encodes polycystin-L2 [2]. It is likely involved in ion channel-related functions as it has homology with other polycystins and is predicted to have transmembrane domains similar to ion channel subunits [2]. Pkd2l2 has been associated with spermatogenesis and may play a role in cardiac conduction disorders [1,3].

In a study on spermatogenesis, Pkd2l2 showed a time-dependent expression pattern in postnatal mouse testis. Immunohistochemistry revealed its protein was present in spermatocytes, round spermatids, and elongating spermatids. Overexpression in MDCK cells increased intracellular calcium concentration, suggesting it may be involved in mid-late spermatogenesis by modulating intracellular calcium [1]. In a genetic analysis of cardiac conduction disorders, PKD2L2 was identified as one of the significant loci associated with atrioventricular block, highlighting its potential role in cardiac electrical conduction [3].

In conclusion, Pkd2l2 is implicated in spermatogenesis and potentially in cardiac conduction. The findings from studies on mouse models for spermatogenesis and genetic association studies for cardiac conduction disorders have provided insights into its functions. Understanding Pkd2l2 may contribute to further exploration of these biological processes and related disease mechanisms.

References:

1. Chen, Ye, Zhang, Zheng, Lv, Xiao-Yan, Wei, Yu-Quan, Zhou, Qin. . Expression of Pkd2l2 in testis is implicated in spermatogenesis. In Biological & pharmaceutical bulletin, 31, 1496-500. doi:. https://pubmed.ncbi.nlm.nih.gov/18670078/

2. Guo, L, Schreiber, T H, Weremowicz, S, Lee, C, Zhou, J. . Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization. In Genomics, 64, 241-51. doi:. https://pubmed.ncbi.nlm.nih.gov/10756092/

3. Li, Bingxun, Xu, Hongxuan, Wu, Lin. 2025. Genetic insights into cardiac conduction disorders from genome-wide association studies. In Human genomics, 19, 20. doi:10.1186/s40246-025-00732-x. https://pubmed.ncbi.nlm.nih.gov/40022259/