INVS explained

Inversin is a protein that in humans is encoded by the INVS gene.^[1]

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.^[2]

Interactions

INVS has been shown to interact with NPHP1.

Further reading

• Yokoyama T, Copeland NG, Jenkins NA, etal . Reversal of left-right asymmetry: a situs inversus mutation. . Science . 260 . 5108 . 679–82 . 1993 . 8480178 . 10.1126/science.8480178 . 1993Sci...260..679Y .
• Haider NB, Carmi R, Shalev H, etal . A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping . Am. J. Hum. Genet. . 63 . 5 . 1404–10 . 1998 . 9792867 . 10.1086/302108 . 1377550 .
• Schön P, Tsuchiya K, Lenoir D, etal . Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia . Hum. Genet. . 110 . 2 . 157–65 . 2002 . 11935322 . 10.1007/s00439-001-0655-5 . 22047620 .
• Morgan D, Goodship J, Essner JJ, etal . The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin . Hum. Genet. . 110 . 4 . 377–84 . 2002 . 11941489 . 10.1007/s00439-002-0696-4 . 30851723 .
• Nürnberger J, Bacallao RL, Phillips CL . Inversin Forms a Complex with Catenins and N-Cadherin in Polarized Epithelial Cells . Mol. Biol. Cell . 13 . 9 . 3096–106 . 2003 . 12221118 . 10.1091/mbc.E02-04-0195 . 124145 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Humphray SJ, Oliver K, Hunt AR, etal . DNA sequence and analysis of human chromosome 9 . Nature . 429 . 6990 . 369–74 . 2004 . 15164053 . 10.1038/nature02465 . 2734081 . 2004Natur.429..369H .
• Gerhard DS, Wagner L, Feingold EA, etal . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Otto EA, Loeys B, Khanna H, etal . Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin . Nat. Genet. . 37 . 3 . 282–8 . 2005 . 15723066 . 10.1038/ng1520 . 4972004 .
• Simons M, Gloy J, Ganner A, etal . Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways . Nat. Genet. . 37 . 5 . 537–43 . 2005 . 15852005 . 10.1038/ng1552 . 3733333 .
• Rual JF, Venkatesan K, Hao T, etal . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
• O'Toole JF, Otto EA, Frishberg Y, Hildebrandt F . Retinitis pigmentosa and renal failure in a patient with mutations in INVS . Nephrol. Dial. Transplant. . 21 . 7 . 1989–91 . 2007 . 16522655 . 10.1093/ndt/gfl088 .
• Gilling M, Dullinger JS, Gesk S, etal . Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans . Am. J. Hum. Genet. . 78 . 5 . 878–83 . 2006 . 16642442 . 10.1086/503632 . 1474032 .
• Assadi F . Lack of NPHP2 mutations in a newborn infant with Joubert syndrome-related disorder presenting as end-stage renal disease . Pediatr. Nephrol. . 22 . 5 . 750–2 . 2007 . 17216245 . 10.1007/s00467-006-0412-z . 10272235 .

Notes and References

1. Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F . Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination . Nat Genet . 34 . 4 . 413–20 . Aug 2003 . 12872123 . 3732175. 10.1038/ng1217 .
2. Web site: Entrez Gene: INVS inversin.