Gene
clcn2c
- ID
- ZDB-GENE-050506-73
- Name
- chloride channel 2c
- Symbol
- clcn2c Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have voltage-gated chloride channel activity. Involved in chloride ion homeostasis. 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 extension; gill; ionocyte; mucus secreting cell; and pleuroperitoneal region. Orthologous to human CLCN2 (chloride voltage-gated channel 2).
- Genome Resources
- Note
-
In pre-publication communications with Alejandro Barrallo Gimeno, it was determined that this gene will be called clcn2c in his upcoming publication.
- Comparative Information
-
- All Expression Data
- 17 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6903943 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Wang et al., 2015
- 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, core | Chloride channel, voltage gated | Voltage-gated chloride channel |
|---|---|---|---|---|---|
|
UniProtKB:E7FCE2
|
810 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
clcn2c-201
(1)
|
Ensembl | 2,755 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-clcn2c | Rabbit |
|
1 |
Plasmids
No data available