INVS

Inversin
Identifiers
Symbols	INVS ; NPH2; KIAA0573; INV; MGC133080; MGC133081; NPHP2
External IDs	Template:OMIM5 Template:MGI HomoloGene: 7786
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Inversin, also known as INVS, is a human 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. Two transcript variants encoding distinct isoforms have been identified for this gene.

Further reading

• Yokoyama T, Copeland NG, Jenkins NA; et al. (1993). "Reversal of left-right asymmetry: a situs inversus mutation". Science. 260 (5108): 679–82. PMID 8480178.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Haider NB, Carmi R, Shalev H; et al. (1998). "A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping". Am. J. Hum. Genet. 63 (5): 1404–10. PMID 9792867.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schön P, Tsuchiya K, Lenoir D; et al. (2002). "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. doi:10.1007/s00439-001-0655-5. PMID 11935322.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Morgan D, Goodship J, Essner JJ; et al. (2002). "The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin". Hum. Genet. 110 (4): 377–84. doi:10.1007/s00439-002-0696-4. PMID 11941489.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nürnberger J, Bacallao RL, Phillips CL (2003). "Inversin forms a complex with catenins and N-cadherin in polarized epithelial cells". Mol. Biol. Cell. 13 (9): 3096–106. doi:10.1091/mbc.E02-04-0195. PMID 12221118.CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Otto EA, Schermer B, Obara T; et al. (2003). "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. doi:10.1038/ng1217. PMID 12872123.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Humphray SJ, Oliver K, Hunt AR; et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. doi:10.1038/nature02465. PMID 15164053.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Otto EA, Loeys B, Khanna H; et al. (2005). "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. doi:10.1038/ng1520. PMID 15723066.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Simons M, Gloy J, Ganner A; et al. (2005). "Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways". Nat. Genet. 37 (5): 537–43. doi:10.1038/ng1552. PMID 15852005.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• O'Toole JF, Otto EA, Frishberg Y, Hildebrandt F (2007). "Retinitis pigmentosa and renal failure in a patient with mutations in INVS". Nephrol. Dial. Transplant. 21 (7): 1989–91. doi:10.1093/ndt/gfl088. PMID 16522655.CS1 maint: Multiple names: authors list (link)
• Gilling M, Dullinger JS, Gesk S; et al. (2006). "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. doi:10.1086/503632. PMID 16642442.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Assadi F (2007). "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. doi:10.1007/s00467-006-0412-z. PMID 17216245.