This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene.
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Protein Aliases: Inversin; Inversion of embryo turning homolog; inversion of embryo turning protein; inversion of embryonic turning; nephrocystin 2; Nephrocystin-2
Gene Aliases: INV; INVS; NPH2; NPHP2; RGD1563359
UniProt ID: (Human) Q9Y283
Molecular Function: scaffold/adaptor protein