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 enable voltage-gated chloride channel activity. Acts upstream of or within chloride ion homeostasis. Located in cell junction. Is expressed in several structures, including extension; gill; ionocyte; mucus secreting cell; 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 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 |
|---|---|---|---|
| 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 | Length | CBS domain superfamily | Chloride channel, core | 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 |
|
2 |
Plasmids
No data available