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)
End	100,302,175 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	48,431,954 bp
RNA expression pattern
	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
	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
	27130
	16348
	ENSG00000119509
	ENSMUSG00000028344
	Q9Y283; Q2M1I4
	O89019
	NM_014425; NM_183245; NM_001318381; NM_001318382
	NM_001281977; NM_001281978; NM_010569
	NP_001305310; NP_001305311; NP_055240; NP_001305310.1
	n/a
	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 2 3 GRCh38: Ensembl release 89: ENSG00000119509 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028344 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 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.
1 2 "Entrez Gene: INVS inversin".

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.

This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000119509 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid12872123-5] 1 2 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.

[entrez-6] 1 2 "Entrez Gene: INVS inversin".

[1]

[2]

[3]

[4]

[5]

[6]

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBSome BBS1 BBS2 BBS4 BBS5 BBS7 BBS8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

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INVS

Interactions

References

Further reading