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
- Description
- Involved in pronephric glomerulus development. Predicted to localize to plasma membrane. Used to study proteinuria. Human ortholog(s) of this gene implicated in nephrotic syndrome type 2. Is expressed in pronephric glomerular basement membrane; pronephric glomerulus; pronephric podocyte; pronephros; and renal glomerulus. Orthologous to human NPHS2 (NPHS2 stomatin family member, podocin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 39 figures from 32 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| nephrotic syndrome type 2 | Alliance | Nephrotic syndrome, type 2 | 600995 |
| 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 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Band 7 domain | Band 7/SPFH domain superfamily | Band-7 stomatin-like | Stomatin/HflK family |
|---|---|---|---|---|---|
|
UniProtKB:A4FVJ0
|
391 |
Interactions and Pathways
No data available
Plasmids