Gene

clcn2b

ID

ZDB-GENE-151006-1

Name

chloride channel, voltage-sensitive 2b

Symbol

clcn2b Nomenclature History

Previous Names

clc-2b (1)

Type

protein_coding_gene

Location

Unmapped

Description

Enables chloride channel activity. Predicted to be involved in chloride transport. Predicted to act upstream of or within monoatomic ion transport and 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

None

Comparative Information

Expression

All Expression Data

4 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 clcn2b 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 clcn2b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR002244	Chloride channel ClC-2
Family	IPR050970	Voltage-gated chloride channel
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	Voltage-gated chloride channel
UniProtKB:A0A0G2KI62 InterPro
UniProtKB:A0A098DN12 InterPro	898
UniProtKB:A0A8M3AV80 InterPro	894
UniProtKB:A0A8M3AV81 InterPro	911

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	clcn2b-201 (1) Ensembl	Ensembl		3,222 nt	Select Tool ZFIN BLAST
mRNA	clcn2b-202 (1) Ensembl	Ensembl		6,884 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations