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
- Acts upstream of or within 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
- 40 figures from 33 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