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
- Enables chloride channel activity. Acts upstream of or within chloride transmembrane transport. Located in 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
-
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 |
|---|---|---|---|
| primary hyperaldosteronism | Alliance | Hyperaldosteronism, familial, type II | 605635 |
| Leukoencephalopathy with ataxia | 615651 | ||
| {Epilepsy, idiopathic generalized, susceptibility to, 11} | 607628 | ||
| {Epilepsy, juvenile absence, susceptibility to, 2} | 607628 | ||
| {Epilepsy, juvenile myoclonic, susceptibility to, 8} | 607628 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | CBS domain superfamily | Chloride channel | Chloride channel ClC-2 | Chloride channel, core | Voltage-gated chloride channel |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9QJE6 | InterPro | 477 | |||||
| UniProtKB:F1Q5F4 | InterPro | 979 | |||||
| UniProtKB:A0A8M9QJE0 | InterPro | 940 | |||||
| UniProtKB:A0AB32TSQ3 | InterPro | 962 |
| 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