The gene INVS encodes a protein localized to the primary cilia of the renal epithelium. The Inversin protein, made up of two IQ calmodulin-binding domains and multiple Ankyrin domains, is responsible for the negative regulation of the canonical Wnt signaling pathway. It forms a complex with NEK8, ANKS6 and NPHP3, and it is believed to be involved in renal development as well as left-right axis determination.
The gene is associated with Infantile Nephronophthisis 2, an autosomal recessive disorder characterized by enlarged, hyperechogenic kidneys, chronic tubulointerstitial nephritis, hypertension and eventually renal failure by the age of 3-years.