Gene
nphp3
- ID
- ZDB-GENE-091204-117
- Name
- nephronophthisis 3
- Symbol
- nphp3 Nomenclature History
- Previous Names
-
- si:dkey-56l10.1
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Involved in several processes, including Kupffer's vesicle development; left/right pattern formation; and morphogenesis of an epithelium. Predicted to localize to cilium. Human ortholog(s) of this gene implicated in Meckel syndrome 7; Senior-Loken syndrome; nephronophthisis; nephronophthisis 3; and renal-hepatic-pancreatic dysplasia. Orthologous to human NPHP3 (nephrocystin 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| Meckel syndrome 7 | Alliance | Meckel syndrome 7 | 267010 |
| nephronophthisis 3 | Alliance | Nephronophthisis 3 | 604387 |
| renal-hepatic-pancreatic dysplasia | Alliance | Renal-hepatic-pancreatic dysplasia 1 | 208540 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR051787 | Effector and Ciliary Development-Associated Protein |
| Homologous_superfamily | IPR011990 | Tetratricopeptide-like helical domain superfamily |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Repeat | IPR019734 | Tetratricopeptide repeat |
Domain Details Per Protein
| Protein | Length | Effector and Ciliary Development-Associated Protein | P-loop containing nucleoside triphosphate hydrolase | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat |
|---|---|---|---|---|---|
|
UniProtKB:P0CI65
|
Interactions and Pathways
No data available
Plasmids
No data available