INVS

Protein-coding gene in the species Homo sapiens

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]
Band	9q31.1	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]
Band	4 B1\|4 26.11 cM	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000119509 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b 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.
^ ^a ^b "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.