ZFIN is now using GRCz12tu for Genomic Data
Gene
nphs2
- ID
- ZDB-GENE-051102-2
- Name
- NPHS2 stomatin family member, podocin
- Symbol
- nphs2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Acts upstream of or within glomerular filtration and pronephric glomerulus development. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in pronephric glomerular basement membrane; pronephric glomerulus; pronephric podocyte; pronephros; and renal glomerulus. Used to study proteinuria. Human ortholog(s) of this gene implicated in nephrotic syndrome type 2. Orthologous to human NPHS2 (NPHS2 stomatin family member, podocin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 41 figures from 34 publications
- 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 |
|---|---|---|---|---|---|
| sa24139 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| nephrotic syndrome type 2 | Alliance | Nephrotic syndrome, type 2 | 600995 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| proteinuria | WT + MO1-nphs2 | standard conditions | Kramer-Zucker et al., 2005 |
| proteinuria | AB + MO1-nphs2 | standard conditions | Sun et al., 2017 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Band 7 domain | Band 7/SPFH domain superfamily | Band-7 stomatin-like | Stomatin/HflK family |
|---|---|---|---|---|---|---|
| UniProtKB:A4FVJ0 | InterPro | 391 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(-2.5nphs2:EGFP) |
|
| 1 | (9) | |
| Tg(-2.5nphs2:GCaMP6s-2A-LIFEACT-TagRFPT,cryaa:CFP) |
|
| 1 | Brown et al., 2021 | |
| Tg(-2.5nphs2:KillerRed,cryaa:CFP) |
|
| 1 | Brown et al., 2021 | |
| Tg2(nphs2:GAL4) |
|
| 2 | (2) | |
| Tg(nphs2:Cre-ERT2) |
|
| 1 | Wan et al., 2016 | |
| Tg(nphs2:Eco.NfsB-mCherry) |
|
| 1 | (14) | |
| Tg(nphs2:EGFP) |
|
| 2 | (8) | |
| Tg(nphs2:GAL4) |
|
| 1 | (6) | |
| Tg(nphs2:GAL4-VP16) |
|
| 1 | (5) | |
| Tg(nphs2:GFP) |
|
| 1 | (3) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-171O17 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:162424 | ZFIN Curated Data |
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- Genome Browsers
| Type | Accession # | Genome Assembly | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001018145 (1) | 1479 nt | ||
| Genomic | GenBank:CR381682 (2) | 106921 nt | ||
| Polypeptide | UniProtKB:A4FVJ0 (1) | 391 aa |
- Neelathi, U.M., Ullah, E., George, A., Maftei, M.I., Boobalan, E., Sanchez-Mendoza, D., Adams, C., McGaughey, D., Sergeev, Y.V., Ai Rawi, R., Naik, A., Bender, C., Maumenee, I.H., Michaelides, M., Tan, T.G., Lin, S., Villasmil, R., Blain, D., Hufnagel, R.B., Arno, G., Young, R.M., Guan, B., Brooks, B.P. (2025) Variants in NR6A1 cause a novel oculo vertebral renal syndrome. Nature communications. 16:61116111
- Zhang, X., Gschwind, J., Erben, V., Bennewitz, K., Li, X., Sticht, C., Poschet, G., Hausser, I., Fleming, T., Szendroedi, J., Nawroth, P.P., Kroll, J. (2025) Endogenous acrolein accumulation in akr7a3 mutants causes microvascular dysfunction due to increased arachidonic acid metabolism. Redox Biology. 83:103639103639
- Belcher, B., Vestal, J., Lane, S., Kell, M., Smith, L., Camarata, T. (2023) The zebrafish paralog six2b is required for early proximal pronephros morphogenesis. Scientific Reports. 13:1969919699
- Riedmann, H., Kayser, S., Helmstädter, M., Epting, D., Bergmann, C. (2023) Kif21a deficiency leads to impaired glomerular filtration barrier function. Scientific Reports. 13:1916119161
- Stamellou, E., Agrawal, S., Siegerist, F., Buse, M., Kuppe, C., Lange, T., Buhl, E.M., Alam, J., Strieder, T., Boor, P., Ostendorf, T., Gröne, H.J., Floege, J., Smoyer, W.E., Endlich, N., Moeller, M.J. (2023) Inhibition of the glucocorticoid receptor attenuates proteinuric kidney diseases in multiple species. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 39(7):1181-1193
- Hopfenmüller, V.L., Perner, B., Reuter, H., Bates, T.J.D., Große, A., Englert, C. (2022) The Wilms Tumor Gene wt1a Contributes to Blood-Cerebrospinal Fluid Barrier Function in Zebrafish. Frontiers in cell and developmental biology. 9:809962
- Lee, M.S., Devi, S., He, J.C., Zhou, W. (2022) A zebrafish model of congenital nephrotic syndrome of the Finnish type. Frontiers in cell and developmental biology. 10:976043
- Naylor, R.W., Lemarie, E., Jackson-Crawford, A., Davenport, J.B., Mironov, A., Lowe, M., Lennon, R. (2022) A novel nanoluciferase transgenic reporter measures proteinuria in zebrafish. Kidney International. 102(4):815-827
- Brown, C., Mullins, L.J., Wesencraft, K., McConnell, G., Beltran, M., Henderson, N.C., Conway, B., Hoffmann, S., Rider, S., Mullins, J.J. (2021) scRNA Transcription Profile of Adult Zebrafish Podocytes Using a Novel Reporter Strain. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology. 55:35-47
- Chu, S., Kwon, B.R., Lee, Y.M., Zoh, K.D., Choi, K. (2021) Effects of 2-ethylhexyl-4-methoxycinnamate (EHMC) on thyroid hormones and genes associated with thyroid, neurotoxic, and nephrotoxic responses in adult and larval zebrafish (Danio rerio). Chemosphere. 263:128176
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