P2RX7

Cilia effects upon perturbation of P2RX7

Phenotypes

Mouse phenotype:

decreased circulating glycerol level

Mouse ciliopathy phenotype:

cataract; abnormal lens morphology

Subcellular localization

cilia

Functional category

• Motile cilium & axoneme

Function

Mutations in P2RX7 cause Polycystic Kidney Disease (PMID: 39802450).Primary cilium signaling defects is one of the pathogenic mechanisms of cyst formation in PKD.1 Therefore, we asked whether P2X7 receptors are located in the primary cilia of renal tubular epithelial cells. We performed a double immunocytochemistry for P2X7 and acetyl-α-tubulin in the human kidney epithelial cells (HK-2), and the result showed the expression of P2X7 receptors was indeed localize in the primary cilia (Figure 7), suggesting that P2X7 receptors may participate in the mechanosensory signaling in regulating cyst formation(21636640).