KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1
Gene ID: 3753, updated on 2-Nov-2024Gene type: protein coding
Also known as: ISK; JLNS; LQT5; MinK; JLNS2; LQT2/5
- See all available tests in GTR for this gene
- Go to complete Gene record for KCNE1
- Go to Variation Viewer for KCNE1 variants
Summary
The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available | |
| Jervell and Lange-Nielsen syndrome 2 | See labs |
| Long QT syndrome MedGen: C0023976GeneReviews: Long QT Syndrome Overview | See labs |
| Long QT syndrome 5 | See labs |
| Several common variants modulate heart rate, PR interval and QRS duration. GeneReviews: Not available |
Genomic context
- Location:
- 21q22.12
- Sequence:
- Chromosome: 21; NC_000021.9 (34446688..34512210, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KCNE1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCHMC - Human Genetics Mutation Database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KCNE1 @ ZAC-GGM
- 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.