Aliases for INVS Gene
External Ids for INVS Gene
Previous HGNC Symbols for INVS Gene
Previous GeneCards Identifiers for INVS Gene
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. [provided by RefSeq, May 2012]
GeneCards Summary for INVS Gene
INVS (Inversin) is a Protein Coding gene. Diseases associated with INVS include Nephronophthisis 2 and Infantile Nephronophthisis. Among its related pathways are Wnt Signaling Pathway and Pluripotency. Gene Ontology (GO) annotations related to this gene include calmodulin binding. An important paralog of this gene is ANK2.
UniProtKB/Swiss-Prot for INVS Gene
Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity).