Gene
ctns
- ID
- ZDB-GENE-050522-352
- Name
- cystinosin, lysosomal cystine transporter
- Symbol
- ctns Nomenclature History
- Previous Names
-
- zgc:110194
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable L-cystine transmembrane transporter activity. Acts upstream of or within glomerular filtration; regulation of autophagy; and renal absorption. Predicted to be located in membrane. Predicted to be active in lysosomal membrane. Used to study cystinosis. Human ortholog(s) of this gene implicated in cystinosis. Orthologous to human CTNS (cystinosin, lysosomal cystine transporter).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110194 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 27 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cystinosis | Alliance | Cystinosis, atypical nephropathic | 219800 |
| cystinosis | Alliance | Cystinosis, late-onset juvenile or adolescent nephropathic | 219900 |
| cystinosis | Alliance | Cystinosis, nephropathic | 219800 |
| cystinosis | Alliance | Cystinosis, ocular nonnephropathic | 219750 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Lysosomal cystine transporter | PQ-loop repeat |
|---|---|---|---|
|
UniProtKB:Q503T0
|
384 |
Interactions and Pathways
No data available
Plasmids
No data available