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 have chloride transmembrane transporter activity. Predicted to be involved in chloride transport and transmembrane transport. Predicted to localize to intracellular membrane-bounded organelle. Used to study osteopetrosis. Human ortholog(s) of this gene implicated in autosomal dominant osteopetrosis 2 and autosomal recessive osteopetrosis 4. Is expressed in several structures, including EVL; blastomere; head; periderm; and pleuroperitoneal region. 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