Gene
clcn2b
- ID
- ZDB-GENE-151006-1
- Name
- chloride channel, voltage-sensitive 2b
- Symbol
- clcn2b Nomenclature History
- Previous Names
-
- clc-2b (1)
- Type
- protein_coding_gene
- Location
- Unmapped
- Description
- Exhibits chloride channel activity. Predicted to be involved in chloride transport. Localizes to cell junction. Is expressed in several structures, including eye; gill; heart; liver; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in idiopathic generalized epilepsy 11 and primary hyperaldosteronism. Orthologous to human CLCN2 (chloride voltage-gated channel 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 4 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 |
---|---|---|---|
idiopathic generalized epilepsy 11 | Alliance | {Epilepsy, idiopathic generalized, susceptibility to, 11} | 607628 |
idiopathic generalized epilepsy 11 | Alliance | {Epilepsy, juvenile absence, susceptibility to, 2} | 607628 |
idiopathic generalized epilepsy 11 | Alliance | {Epilepsy, juvenile myoclonic, susceptibility to, 8} | 607628 |
primary hyperaldosteronism | Alliance | Hyperaldosteronism, familial, type II | 605635 |
Leukoencephalopathy with ataxia | 615651 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | CBS domain superfamily | Chloride channel ClC-2 | Chloride channel, core | Chloride channel, voltage gated | Voltage-gated chloride channel |
---|---|---|---|---|---|---|
UniProtKB:A0A0G2KI62
|
||||||
UniProtKB:A0A098DN12
|
898 | |||||
UniProtKB:A0A8M3AV80
|
894 | |||||
UniProtKB:A0A8M3AV81
|
911 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance