CLCN2 chloride voltage-gated channel 2
Gene ID: 1181, updated on 2-Nov-2024Gene type: protein coding
Also known as: CLC2; ECA2; ECA3; EGI3; EGMA; EJM6; EJM8; FHA2; FHII; CIC-2; EGI11; HALD2; LKPAT; clC-2
- See all available tests in GTR for this gene
- Go to complete Gene record for CLCN2
- Go to Variation Viewer for CLCN2 variants
Summary
This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Epilepsy, idiopathic generalized, susceptibility to, 11 | not available |
| Familial hyperaldosteronism type II | not available |
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema | not available |
Genomic context
- Location:
- 3q27.1
- Sequence:
- Chromosome: 3; NC_000003.12 (184346185..184361605, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CLCN2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CLCN2 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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