Gene

clcn1a

ID

ZDB-GENE-060503-333

Name

chloride channel, voltage-sensitive 1a

Symbol

clcn1a Nomenclature History

Previous Names

si:dkey-14o18.5 (1)

Type

protein_coding_gene

Location

Chr: 19 Mapping Details/Browsers

Description

Predicted to have voltage-gated chloride channel activity. Predicted to be involved in chloride transport. Predicted to localize to integral component of plasma membrane. Human ortholog(s) of this gene implicated in myotonia congenita. Is expressed in gill. Orthologous to human CLCN1 (chloride voltage-gated channel 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Wang et al., 2015

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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 clcn1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Becker disease	Alliance	Myotonia congenita, recessive	255700
Thomsen disease	Alliance	Myotonia congenita, dominant	160800
Thomsen disease	Alliance	Myotonia levior	160800

Associated With clcn1a 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

Domain Details Per Protein

Protein	Length	CBS domain superfamily	Chloride channel, core	Chloride channel, voltage gated
UniProtKB:A0A8M6YTZ2 InterPro	968
UniProtKB:A0A0R4ID92 InterPro	945
UniProtKB:A0A8M6Z2F5 InterPro	628
UniProtKB:F1Q5M3 InterPro	1011
UniProtKB:A0A8M9PGL5 InterPro	973