ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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 4 | Alliance | Senior-Loken syndrome 4 | 606996 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | NPHP4, C2-like domain | NPHP4, Ig-like domain 1 | NPHP4, Ig-like domain 2 | NPHP4, Ig-like domain 3 | NPHP4, Ig-like domain 4 | NPHP4, SK-like domain |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PS59 | InterPro | 1036 | ||||||
| UniProtKB:A0A8M9QA20 | InterPro | 914 | ||||||
| UniProtKB:A0AB32TM99 | InterPro | 1008 | ||||||
| UniProtKB:A0AB32TWC1 | InterPro | 1417 | ||||||
| UniProtKB:A0AB32TX87 | InterPro | 1417 | ||||||
| UniProtKB:A0AB32TZ61 | InterPro | 1416 | ||||||
| UniProtKB:A0AC58G9K5 | InterPro | 1390 | ||||||
| UniProtKB:A0AC58G9K7 | InterPro | 1389 | ||||||
| UniProtKB:A0AC58G9K8 | InterPro | 1389 | ||||||
| UniProtKB:A0AC58G9Q6 | InterPro | 1388 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers