Gene
clcn1b
- ID
- ZDB-GENE-100921-11
- Name
- chloride channel, voltage-sensitive 1b
- Symbol
- clcn1b Nomenclature History
- Previous Names
-
- cr855317.3 (1)
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to have voltage-gated chloride channel activity. Predicted to be involved in chloride transport. Predicted to localize to integral component of plasma membrane. Human ortholog(s) of this gene implicated in myotonia congenita. Is expressed in muscle. Orthologous to human CLCN1 (chloride voltage-gated channel 1).
- 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Becker disease | Alliance | Myotonia congenita, recessive | 255700 |
| Thomsen disease | Alliance | Myotonia congenita, dominant | 160800 |
| Thomsen disease | Alliance | Myotonia levior | 160800 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | CBS domain superfamily | Chloride channel, core | Chloride channel, voltage gated | Voltage-gated chloride channel |
|---|---|---|---|---|---|
|
UniProtKB:F1Q927
|
945 | ||||
|
UniProtKB:A0A8M9P896
|
956 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
clcn1b-201
(1)
|
Ensembl | 3,816 nt | ||
| mRNA |
clcn1b-202
(1)
|
Ensembl | 2,607 nt |
Interactions and Pathways
No data available
Plasmids