ZFIN ID: ZDB-GENE-151006-1
Gene Name: chloride channel, voltage-sensitive 2b
Gene Symbol: clcn2b    Nomenclature History

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Previous Name: clc-2b (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Unmapped
Description: Exhibits chloride channel activity. Predicted to be involved in chloride transport. Localizes to 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: Alliance (1),  Gene:100333644 (1),  Ensembl(GRCz11):ENSDARG00000104550 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa30444 Point Mutation Unknown Splice Site ENU
sa30445 Point Mutation Unknown Premature Stop ENU
PHENOTYPE No data available
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
{Epilepsy, juvenile absence, susceptibility to, 2} 607628
{Epilepsy, juvenile myoclonic, susceptibility to, 8} 607628
primary hyperaldosteronism Alliance Hyperaldosteronism, familial, type II 605635
Leukoencephalopathy with ataxia 615651
DISEASE ASSOCIATED WITH clcn2b VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process chloride transport (more)
Cellular Component cell junction (more)
Molecular Function chloride channel activity (more)
GO Terms (all 9)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS No data available
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM clcn2b No data available
MARKER RELATIONSHIPS No data available
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_001316315 (1)
Genomic RefSeq:NW_003336964 (1) Blast at MegaBLAST
Polypeptide UniProtKB:A0A098DN12 (1) 898 aa
Sequence Information (all 30)
ORTHOLOGY for clcn2b ( Unmapped )
CITATIONS (17)