Gene

clcn2c

ID

ZDB-GENE-050506-73

Name

chloride channel 2c

Symbol

clcn2c Nomenclature History

Previous Names

clc-2c (1)
im:6903943 (1)
si:ch211-229n1.3

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

Expression

All Expression Data

17 figures from 6 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:6903943 (10 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from Wang et al., 2015
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With clcn2c 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 clcn2c 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
Homologous_superfamily	IPR014743	Chloride channel, core
Homologous_superfamily	IPR046342	CBS domain superfamily