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
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 |
1 - 1 of 1
Domain Details Per Protein
| Protein | Additional Resources | Length | Nephrocystin-4 |
|---|---|---|---|
| UniProtKB:A0A8M9PS59 | InterPro | 1036 | |
| UniProtKB:A0A8M9QA20 | InterPro | 914 | |
| UniProtKB:A0AB32TM99 | InterPro | 1008 | |
| UniProtKB:A0AB32TWC1 | InterPro | 1417 | |
| UniProtKB:A0AB32TX87 | InterPro | 1417 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available