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. Is expressed in gill. Human ortholog(s) of this gene implicated in myotonia congenita. 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
Thisse Expression Data
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
myotonia congenita Alliance Myotonia congenita, dominant 160800
myotonia congenita Alliance Myotonia congenita, recessive 255700
Myotonia levior, recessive
Associated With clcn1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000644 CBS domain
Family IPR001807 Chloride channel, voltage gated
Homologous_superfamily IPR014743 Chloride channel, core
Domain Details Per Protein
Protein Length CBS domain Chloride channel, core Chloride channel, voltage gated
UniProtKB:F1Q5M3 1011
UniProtKB:A0A0R4ID92 945
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