PKD2 is a gene that provides instructions for making a protein called polycystin-2. This protein is primarily found in the kidneys and plays a crucial role in regulating kidney function and maintaining the structure of kidney cells. Mutations in the PKD2 gene can lead to autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder characterized by the formation of fluid-filled cysts in the kidneys. ADPKD can result in kidney enlargement, pain, and eventually kidney failure. The severity of the disease can vary widely among individuals, even within the same family. Early diagnosis and management are essential for improving the quality of life for those affected by PKD2 mutations.