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]
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

[edit]

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

## References

[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119509 - Ensembl, May 2017
2. ^ a b c 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. ^ 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 12872123.413-20&rft.date=2003-08&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3732175#id-name=PMC&rft_id=info:pmid/12872123&rft_id=info:doi/10.1038/ng1217&rft.aulast=Otto&rft.aufirst=EA&rft.au=Schermer,+B&rft.au=Obara,+T&rft.au=O'Toole,+JF&rft.au=Hiller,+KS&rft.au=Mueller,+AM&rft.au=Ruf,+RG&rft.au=Hoefele,+J&rft.au=Beekmann,+F&rft.au=Landau,+D&rft.au=Foreman,+JW&rft.au=Goodship,+JA&rft.au=Strachan,+T&rft.au=Kispert,+A&rft.au=Wolf,+MT&rft.au=Gagnadoux,+MF&rft.au=Nivet,+H&rft.au=Antignac,+C&rft.au=Walz,+G&rft.au=Drummond,+IA&rft.au=Benzing,+T&rft.au=Hildebrandt,+F&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3732175&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
6. ^ a b "Entrez Gene: INVS inversin".

## Further reading

[edit]

* 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 8480178.679-82&rft.date=1993&rft_id=info:pmid/8480178&rft_id=info:doi/10.1126/science.8480178&rft_id=info:bibcode/1993Sci...260..679Y&rft.aulast=Yokoyama&rft.aufirst=T&rft.au=Copeland,+NG&rft.au=Jenkins,+NA&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
* 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 9792867.1404-10&rft.date=1998&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377550#id-name=PMC&rft_id=info:pmid/9792867&rft_id=info:doi/10.1086/302108&rft.aulast=Haider&rft.aufirst=NB&rft.au=Carmi,+R&rft.au=Shalev,+H&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377550&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
* 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 22047620.157-65&rft.date=2002&rft_id=https://api.semanticscholar.org/CorpusID:22047620#id-name=S2CID&rft_id=info:pmid/11935322&rft_id=info:doi/10.1007/s00439-001-0655-5&rft.aulast=Schön&rft.aufirst=P&rft.au=Tsuchiya,+K&rft.au=Lenoir,+D&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
* 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 30851723.377-84&rft.date=2002&rft_id=https://api.semanticscholar.org/CorpusID:30851723#id-name=S2CID&rft_id=info:pmid/11941489&rft_id=info:doi/10.1007/s00439-002-0696-4&rft.aulast=Morgan&rft.aufirst=D&rft.au=Goodship,+J&rft.au=Essner,+JJ&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
* 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 12221118.3096-106&rft.date=2003&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC124145#id-name=PMC&rft_id=info:pmid/12221118&rft_id=info:doi/10.1091/mbc.E02-04-0195&rft.aulast=Nürnberger&rft.aufirst=J&rft.au=Bacallao,+RL&rft.au=Phillips,+CL&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC124145&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
* 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 12477932.16899-903&rft.date=2003&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241#id-name=PMC&rft_id=info:pmid/12477932&rft_id=info:doi/10.1073/pnas.242603899&rft_id=info:bibcode/2002PNAS...9916899M&rft.aulast=Strausberg&rft.aufirst=RL&rft.au=Feingold,+EA&rft.au=Grouse,+LH&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
* 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 15164053.369-74&rft.date=2004&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2734081#id-name=PMC&rft_id=info:pmid/15164053&rft_id=info:doi/10.1038/nature02465&rft_id=info:bibcode/2004Natur.429..369H&rft.aulast=Humphray&rft.aufirst=SJ&rft.au=Oliver,+K&rft.au=Hunt,+AR&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2734081&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
* 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 15489334.2121-7&rft.date=2004&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928#id-name=PMC&rft_id=info:pmid/15489334&rft_id=info:doi/10.1101/gr.2596504&rft.aulast=Gerhard&rft.aufirst=DS&rft.au=Wagner,+L&rft.au=Feingold,+EA&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
* 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 4972004.282-8&rft.date=2005&rft_id=https://api.semanticscholar.org/CorpusID:4972004#id-name=S2CID&rft_id=info:pmid/15723066&rft_id=info:doi/10.1038/ng1520&rft.aulast=Otto&rft.aufirst=EA&rft.au=Loeys,+B&rft.au=Khanna,+H&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
* 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 15852005.537-43&rft.date=2005&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733333#id-name=PMC&rft_id=info:pmid/15852005&rft_id=info:doi/10.1038/ng1552&rft.aulast=Simons&rft.aufirst=M&rft.au=Gloy,+J&rft.au=Ganner,+A&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733333&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
* 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 4427026.1173-8&rft.date=2005&rft_id=info:doi/10.1038/nature04209&rft_id=https://api.semanticscholar.org/CorpusID:4427026#id-name=S2CID&rft_id=info:pmid/16189514&rft_id=info:bibcode/2005Natur.437.1173R&rft.aulast=Rual&rft.aufirst=JF&rft.au=Venkatesan,+K&rft.au=Hao,+T&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
* 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 16522655.1989-91&rft.date=2007&rft_id=info:doi/10.1093/ndt/gfl088&rft_id=info:pmid/16522655&rft.aulast=O'Toole&rft.aufirst=JF&rft.au=Otto,+EA&rft.au=Frishberg,+Y&rft.au=Hildebrandt,+F&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
* 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 16642442.878-83&rft.date=2006&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474032#id-name=PMC&rft_id=info:pmid/16642442&rft_id=info:doi/10.1086/503632&rft.aulast=Gilling&rft.aufirst=M&rft.au=Dullinger,+JS&rft.au=Gesk,+S&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474032&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">
* 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 10272235.750-2&rft.date=2007&rft_id=https://api.semanticscholar.org/CorpusID:10272235#id-name=S2CID&rft_id=info:pmid/17216245&rft_id=info:doi/10.1007/s00467-006-0412-z&rft.au=Assadi+F&rfr_id=info:sid/en.wikipedia.org:INVS" class="Z3988">

* v
* t
* e

Ciliary proteins

Nephrocystin|

* NPHP1
* INVS
* NPHP3
* NPHP4
* IQCB1
* CEP290
* GLIS2
* RPGRIP1L

Basal body|

BBsome
BBS1
BBS2
BBS4
BBS5
BBS7
TTC8
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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