Entrez gene ID | | 27130 |
Official gene symbol | | INVS |
Full name | | inversin |
Aliases | | ,INV,KIAA0573,MGC133080,MGC133081,NPH2,NPHP2, |
Gene summary | | 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. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] |
Location | | Chromosome: 9 Locus: 9q31 |
Gene position | | 102861511 - 103063426 Map Viewer |
Gene orientation | | plus |
Gene size | | 201916 bp |
Gene sequence |
| |
OMIM ID | | 243305 |
|