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
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With clcn2a Human Ortholog
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
Associated With clcn2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR001807 Chloride channel, voltage gated
Family IPR002244 Chloride channel ClC-2
Homologous_superfamily IPR014743 Chloride channel, core
Homologous_superfamily IPR046342 CBS domain superfamily
Domain Details Per Protein
Protein Length CBS domain superfamily Chloride channel ClC-2 Chloride channel, core Chloride channel, voltage gated
UniProtKB:A0A8M9QJE6 477
UniProtKB:F1Q5F4 979
UniProtKB:A0A8M9QJE0 940
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations