Gene
nphp4
- ID
- ZDB-GENE-060503-715
- Name
- nephronophthisis 4
- Symbol
- nphp4 Nomenclature History
- Previous Names
-
- si:ch211-55k22.1
- si:ch211-55k22.2
- si:dkey-202c5.1
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including determination of left/right symmetry; pronephros development; and regulation of Wnt signaling pathway. Predicted to be located in cytoskeleton. Predicted to be active in several cellular components, including ciliary basal body; ciliary base; and ciliary transition zone. Is expressed in blastomere. Human ortholog(s) of this gene implicated in Joubert syndrome 4; Senior-Loken syndrome; congenital heart disease; nephronophthisis; and nephronophthisis 4. Orthologous to human NPHP4 (nephrocystin 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 21 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa1369 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa7132 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38686 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa41188 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| uab21 | Allele with one deletion | Exon 4 | Frameshift, Premature Stop | CRISPR | |
| zf3931 | Allele with one deletion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-nphp4 | (2) | |
| CRISPR2-nphp4 | Kayser et al., 2022 | |
| MO1-nphp4 | N/A | (7) |
| MO2-nphp4 | N/A | Burcklé et al., 2011 |
| MO3-nphp4 | N/A | (3) |
| MO4-nphp4 | N/A | French et al., 2012 |
| MO5-nphp4 | N/A | French et al., 2012 |
| MO6-nphp4 | N/A | French et al., 2012 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| nephronophthisis 4 | Alliance | Nephronophthisis 4 | 606966 |
| Senior-Loken syndrome | Alliance | Senior-Loken syndrome 4 | 606996 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR029775 | Nephrocystin-4 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Nephrocystin-4 |
|---|---|---|---|
| UniProtKB:A0A8M9PS59 | InterPro | 1036 | |
| UniProtKB:A0A8M9QA20 | InterPro | 914 |
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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 | CH211-55K22 | ZFIN Curated Data | |
| Contained in | BAC | CH211-57D2 | ZFIN Curated Data | |
| Contained in | BAC | CH211-105H13 | ZFIN Curated Data | |
| Contained in | BAC | CH211-147A11 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-78C7 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-202C5 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-231P15 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-283N20 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193808 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193820 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001130775 (1) | 690 nt | ||
| Genomic | RefSeq:NW_018394722 (1) | 275410 nt | ||
| Polypeptide | UniProtKB:A0A8M9PS59 (1) | 1036 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
- Epting, D., Decker, E., Ott, E., Eisenberger, T., Bader, I., Bachmann, N., Bergmann, C. (2022) The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. Human molecular genetics. 31(14):2295-2306
- Garcia, H., Serafin, A.S., Silbermann, F., Porée, E., Viau, A., Mahaut, C., Billot, K., Birgy, É., Garfa-Traore, M., Roy, S., Ceccarelli, S., Mehraz, M., Rodriguez, P.C., Deleglise, B., Furio, L., Jabot-Hanin, F., Cagnard, N., Del Nery, E., Fila, M., Sin-Monnot, S., Antignac, C., Lyonnet, S., Krug, P., Salomon, R., Annereau, J.P., Benmerah, A., Delous, M., Briseño-Roa, L., Saunier, S. (2022) Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies. Proceedings of the National Academy of Sciences of the United States of America. 119:e2115960119
- Kayser, N., Zaiser, F., Veenstra, A.C., Wang, H., Göcmen, B., Eckert, P., Franz, H., Köttgen, A., Walz, G., Yakulov, T.A. (2022) Clock genes rescue nphp mutations in zebrafish. Human molecular genetics. 31(24):4143-4158
- Wang, J., Thomas, H.R., Thompson, R.G., Waldrep, S.C., Fogerty, J., Song, P., Li, Z., Ma, Y., Santra, P., Hoover, J.D., Yeo, N.C., Drummond, I.A., Yoder, B.K., Amack, J.D., Perkins, B., Parant, J.M. (2022) Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. Disease models & mechanisms. 15(12):
- Bentley-Ford, M.R., LaBonty, M., Thomas, H.R., Haycraft, C.J., Scott, M., LaFayette, C., Croyle, M.J., Andersen, R.S., Parant, J.M., Yoder, B.K. (2021) Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes. Genetics. 220(1):
- 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
- Choksi, S.P., Babu, D., Lau, D., Yu, X., Roy, S. (2014) Systematic discovery of novel ciliary genes through functional genomics in the zebrafish. Development (Cambridge, England). 141:3410-9
- Borgal, L., Habbig, S., Hatzold, J., Liebau, M.C., Dafinger, C., Sacarea, I., Hammerschmidt, M., Benzing, T., and Schermer, B. (2012) The Ciliary Protein Nephrocystin-4 Translocates the Canonical Wnt-Regulator Jade-1 to the Nucleus to Negatively Regulate Beta-Catenin Signaling. The Journal of biological chemistry. 287(30):25370-25380
- French, V.M., van de Laar, I.M., Wessels, M.W., Rohe, C., Roos-Hesselink, J.W., Wang, G., Frohn-Mulder, I.M., Severijnen, L.A., de Graaf, B.M., Schot, R., Breedveld, G., Mientjes, E., van Tienhoven, M., Jadot, E., Jiang, Z., Verkerk, A., Swagemakers, S., Venselaar, H., Rahimi, Z., Najmabadi, H., Meijers-Heijboer, H., de Graaff, E., Helbing, W.A., Willemsen, R., Devriendt, K., Belmont, J.W., Oostra, B.A., Amack, J.D., and Bertoli-Avella, A.M. (2012) NPHP4 Variants Are Associated With Pleiotropic Heart Malformations. Circulation research. 110(12):1564-1574
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