KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2
Gene ID: 9992, updated on 11-Apr-2024Gene type: protein coding
Also known as: LQT5; LQT6; ATFB4; MIRP1
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- Go to complete Gene record for KCNE2
- Go to Variation Viewer for KCNE2 variants
Summary
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Atrial fibrillation, familial, 4 | See labs |
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. GeneReviews: Not available | |
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. GeneReviews: Not available | |
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. GeneReviews: Not available | |
Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
Long QT syndrome MedGen: C0023976GeneReviews: Long QT Syndrome Overview | See labs |
Long QT syndrome 6 | See labs |
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. GeneReviews: Not available |
Genomic context
- Location:
- 21q22.11
- Sequence:
- Chromosome: 21; NC_000021.9 (34364006..34371381)
- Total number of exons:
- 2
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for KCNE2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KCNE2 @ ZAC-GGM
- KCNE2 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
- Variation ViewerRelated Variants
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