INVS

INVS
Identifiers
Aliases	INVS , INV, NPH2, NPHP2, inversin
External IDs	OMIM: 243305; MGI: 1335082; HomoloGene: 7786; GeneCards: INVS; OMA:INVS - orthologs
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q31.1 Start 100,099,243 bp [1] End 100,302,175 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4 B1|4 26.11 cM Start 48,279,760 bp [2] End 48,431,954 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon sural nerve gonad pancreatic ductal cell sperm left ovary right lobe of liver ventricular zone testicle stromal cell of endometrium Top expressed in saccule lumbar spinal ganglion fossa vestibular membrane of cochlear duct pituitary gland tail of embryo Ileal epithelium condyle aortic valve ciliary body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding calmodulin binding Cellular component cytoplasm spindle cell projection cilium microtubule cytoskeleton membrane nucleus Biological process multicellular organism development Wnt signaling pathway negative regulation of canonical Wnt signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 27130 16348 Ensembl ENSG00000119509 ENSMUSG00000028344 UniProt Q9Y283 Q2M1I4 O89019 RefSeq (mRNA) NM_014425 NM_183245 NM_001318381 NM_001318382 NM_001281977 NM_001281978 NM_010569 RefSeq (protein) NP_001305310 NP_001305311 NP_055240 NP_001305310.1 n/a Location (UCSC) Chr 9: 100.1 – 100.3 Mb Chr 4: 48.28 – 48.43 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Inversin is a protein that in humans is encoded by the INVS gene. ^{[5] [6]}

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. ^[6]

Interactions

INVS has been shown to interact with NPHP1. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000119509 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028344 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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 (Aug 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. PMC   3732175 . PMID   12872123.
6. "Entrez Gene: INVS inversin".

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. Bibcode:1993Sci...260..679Y. doi:10.1126/science.8480178. PMID   8480178.
• 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. doi:10.1086/302108. PMC   1377550 . PMID   9792867.
• 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. S2CID   22047620.
• 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. S2CID   30851723.
• 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. PMC   124145 . PMID   12221118.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. Bibcode:2004Natur.429..369H. doi:10.1038/nature02465. PMC   2734081 . PMID   15164053.
• 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. PMC   528928 . PMID   15489334.
• 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. S2CID   4972004.
• 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. PMC   3733333 . PMID   15852005.
• 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• 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.
• 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. PMC   1474032 . PMID   16642442.
• 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. S2CID   10272235.