KCNQ3 potassium voltage-gated channel subfamily Q member 3
Gene ID: 3786, updated on 10-Oct-2024Gene type: protein coding
Also known as: EBN2; BFNC2; KV7.3
- See all available tests in GTR for this gene
- Go to complete Gene record for KCNQ3
- Go to Variation Viewer for KCNQ3 variants
Summary
This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetics of coronary artery calcification among African Americans, a meta-analysis. GeneReviews: Not available | |
| Seizures, benign familial neonatal, 2 | See labs |
Genomic context
- Location:
- 8q24.22
- Sequence:
- Chromosome: 8; NC_000008.11 (132120861..132481095, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KCNQ3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KCNQ3 database
- 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
- RIKEE KCNQ2-5-related illness database
- Variation ViewerRelated Variants
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