Gene
clcn2a
- ID
- ZDB-GENE-070705-19
- Name
- chloride channel, voltage-sensitive 2a
- Symbol
- clcn2a Nomenclature History
- Previous Names
-
- clc-2a (1)
- clcn2
- si:ch211-117k11.1
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Exhibits chloride channel activity. Predicted to be involved in chloride transport. Localizes to cell junction. Human ortholog(s) of this gene implicated in idiopathic generalized epilepsy 11 and primary hyperaldosteronism. Is expressed in several structures, including eye; gill; heart; liver; and pleuroperitoneal region. Orthologous to human CLCN2 (chloride voltage-gated channel 2).
- Genome Resources
- Note
-
In communications with Alejandro Barrallo Gimeno, it was determined that this gene will be renamed clcn2a in his pending publication.
- 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 |
|---|---|---|---|
| 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:A0A8M9QJE6
|
477 | |||||
|
UniProtKB:F1Q5F4
|
979 | |||||
|
UniProtKB:A0A8M9QJE0
|
940 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
clcn2a-201
(1)
|
Ensembl | 3,380 nt | ||
| mRNA |
clcn2a-203
(1)
|
Ensembl | 1,970 nt | ||
| ncRNA |
clcn2a-002
(1)
|
Ensembl | 800 nt |
Interactions and Pathways
No data available
Plasmids
No data available