Gene
clcn7
- ID
- ZDB-GENE-061103-196
- Name
- chloride channel 7
- Symbol
- clcn7 Nomenclature History
- Previous Names
-
- im:7155923
- zgc:153490 (1)
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable chloride transmembrane transporter activity. Acts upstream of or within lysosomal protein catabolic process. Predicted to be located in membrane. Predicted to be active in lysosomal membrane. Is expressed in several structures, including EVL; blastomere; head; periderm; and pleuroperitoneal region. Used to study lysosomal storage disease and osteopetrosis. Human ortholog(s) of this gene implicated in autosomal dominant osteopetrosis 2 and autosomal recessive osteopetrosis 4. Orthologous to human CLCN7 (chloride voltage-gated channel 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7155923 (1 image)
- IMAGE:7154411 (5 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant osteopetrosis 2 | Alliance | Osteopetrosis, autosomal dominant 2 | 166600 |
| autosomal recessive osteopetrosis 4 | Alliance | Osteopetrosis, autosomal recessive 4 | 611490 |
| Hypopigmentation, organomegaly, and delayed myelination and development | 618541 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| lysosomal storage disease | clcn7zh606/zh606; zf2113Tg | standard conditions | Chen et al., 2019 |
| osteopetrosis | AB + MO1-clcn7 | standard conditions | Zhang et al., 2019 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000644 | CBS domain |
| Family | IPR001807 | Chloride channel, voltage gated |
| Family | IPR002249 | Chloride channel ClC-7 |
| Family | IPR051280 | Voltage-gated chloride channel/antiporter |
| Homologous_superfamily | IPR014743 | Chloride channel, core |
| Homologous_superfamily | IPR046342 | CBS domain superfamily |
Domain Details Per Protein
| Protein | Length | CBS domain | CBS domain superfamily | Chloride channel ClC-7 | Chloride channel, core | Chloride channel, voltage gated | Voltage-gated chloride channel/antiporter |
|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QNP3
|
770 | ||||||
|
UniProtKB:A0JMG8
|
795 |
Interactions and Pathways
No data available
Plasmids
No data available