Gene
invs
- ID
- ZDB-GENE-020507-2
- Name
- inversin
- Symbol
- invs Nomenclature History
- Previous Names
-
- wu:fe47e11
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable calmodulin binding activity. Acts upstream of or within several processes, including cloaca development; morphogenesis of an epithelium; and opsin transport. Located in cilium. Used to study ciliopathy. Human ortholog(s) of this gene implicated in hypertension and nephronophthisis 2. Orthologous to human INVS (inversin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Simons et al., 2005
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa2837 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa6435 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa12246 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa12856 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa14224 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36157 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36158 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa36159 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-invs | N/A | (4) |
| MO2-invs | N/A | (7) |
| MO3-invs | N/A | Tobin et al., 2008 |
| MO4-invs | N/A | Schneider et al., 2010 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| nephronophthisis 2 | Alliance | Nephronophthisis 2, infantile | 602088 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| ciliopathy | WT + MO3-invs | control | Tobin et al., 2008 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | Dendritic Spine Regulation and Scaffold | IQ motif, EF-hand binding site |
|---|---|---|---|---|---|---|
| UniProtKB:Q8UVC1 | InterPro | 1021 | ||||
| UniProtKB:A0A8M2B4V4 | InterPro | 1026 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-197H24 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-211I2 | ZFIN Curated Data | |
| Contains | STS | chunp396 | ||
| Encodes | EST | fe47e11 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193661 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_152970 (1) | 3849 nt | ||
| Genomic | GenBank:BX649484 (1) | 196058 nt | ||
| Polypeptide | UniProtKB:A0A8M2B4V4 (1) | 1026 aa |
- Wang, H., Zaiser, F., Eckert, P., Ruf, J., Kayser, N., Veenstra, A.C., Müller, M., Haas, R., Walz, G., Yakulov, T.A. (2023) Inversin (NPHP2) and Vangl2 are required for normal zebrafish cloaca formation. Biochemical and Biophysical Research Communications. 673:9159-15
- Jaffe, K.M., Grimes, D.T., Schottenfeld-Roames, J., Werner, M.E., Ku, T.J., Kim, S.K., Pelliccia, J.L., Morante, N.F., Mitchell, B.J., Burdine, R.D. (2016) c21orf59/kurly Controls Both Cilia Motility and Polarization. Cell Reports. 14(8):1841-9
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Ren, L., Tan, X.J., Xiong, Y.F., Xu, K., Zhou, Y., Zhong, H., Liu, Y., Hong, Y., Liu, S.J. (2014) Transcriptome analysis reveals positive selection on the divergent between topmouth culter and zebrafish. Gene. 552(2):265-71
- Winata, C.L., Kondrychyn, I., Kumar, V., Srinivasan, K.G., Orlov, Y., Ravishankar, A., Prabhakar, S., Stanton, L.W., Korzh, V., and Mathavan, S. (2013) Genome wide analysis reveals zic3 interaction with distal regulatory elements of stage specific developmental genes in zebrafish. PLoS Genetics. 9(10):e1003852
- Fukui, H., Shiba, D., Asakawa, K., Kawakami, K., and Yokoyama, T. (2012) The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish. FEBS letters. 586(16):2273-2279
- Mahuzier, A., Gaudé, H.M., Grampa, V., Anselme, I., Silbermann, F., Leroux-Berger, M., Delacour, D., Ezan, J., Montcouquiol, M., Saunier, S., Schneider-Maunoury, S., and Vesque, C. (2012) Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity. The Journal of cell biology. 198(5):927-940
- Burcklé, C., Gaudé, H.M., Vesque, C., Silbermann, F., Salomon, R., Jeanpierre, C., Antignac, C., Saunier, S., and Schneider-Maunoury, S. (2011) Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros. Human molecular genetics. 20(13):2611-27
- Zhao, C., and Malicki, J. (2011) Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos. The EMBO journal. 30(13):2532-2544
- Schneider, I., Schneider, P.N., Derry, S.W., Lin, S., Barton, L.J., Westfall, T., and Slusarski, D.C. (2010) Zebrafish Nkd1 promotes Dvl degradation and is required for left-right patterning. Developmental Biology. 348(1):22-33
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