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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KCNE5
potassium voltage-gated channel subfamily E regulatory subunit 5
Chromosome X · Xq23
NCBI Gene: 23630Ensembl: ENSG00000176076.7HGNC: HGNC:6241UniProt: Q9UJ90
21PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of potassium ion export across plasma membraneregulation of potassium ion transmembrane transportnegative regulation of potassium ion transmembrane transportpositive regulation of potassium ion transmembrane transportBrugada syndromeAlport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeAlport syndrome - intellectual disability - midface hypoplasia - elliptocytosisFamilial progressive cardiac conduction defect
✦AI Summary

KCNE5 is an X-linked ancillary subunit of voltage-gated potassium channels that modulates cardiac repolarization 1. As a beta-subunit, KCNE5 forms heteromeric complexes with alpha-pore-forming Kv channel subunits, most notably KCNQ1, where it induces time- and voltage-dependent modulation of potassium currents 2. KCNE5 shifts the KCNQ1 activation curve positively by >140 mV and regulates delayed rectifier potassium current (IKs) kinetics at physiological temperatures 2. KCNE5 also interacts with KV2.1 at intercalated discs, controlling its intracellular localization and ventricular outward potassium currents 3. Mutations in KCNE5 are associated with cardiac arrhythmias including atrial fibrillation and Brugada syndrome 13. The AF-associated L65F mutation causes a gain-of-function in IKs by abolishing KCNE5's normal current-suppressing effect 4. In mice, Kcne5 deletion increases ventricular potassium current density and susceptibility to polymorphic ventricular tachycardia 3. Notably, KCNE5 mutations were not identified in a large long QT syndrome cohort, suggesting limited involvement in congenital LQTS 5. KCNE5 is also expressed in placental tissue, where it may regulate vascular reactivity during fetal development 6.

Sources cited
1
KCNE5 is an X-linked Kv channel ancillary subunit associated with cardiac arrhythmias including atrial fibrillation and Brugada syndrome
PMID: 27484720
2
KCNE5 induces time- and voltage-dependent modulation of KCNQ1 current, shifting activation curve by >140 mV and altering gating kinetics
PMID: 12324418
3
Kcne5 deletion increases ventricular potassium currents (IKslow,1, IKslow,2, Ito,f), increases susceptibility to ventricular tachycardia, and KCNE5 regulates KV2.1 intracellular localization
PMID: 30289750
4
KCNE5-L65F mutation associated with atrial fibrillation causes gain-of-function in IKs by losing the normal current-suppressing effect of wild-type KCNE5
PMID: 18313602
5
KCNE5 coding region mutations were not identified in long QT syndrome patients, suggesting limited involvement in congenital LQTS
PMID: 15193977
6
KCNE5 mRNA and protein are expressed in first trimester placental tissue, suggesting roles in vascular development
PMID: 26105295
7
KCNE5 is downregulated in heart tissue from cases of infectious death in infancy, with variants associated with Brugada syndrome and sudden death
PMID: 32299088
Disease Associationsⓘ21
Brugada syndromeOpen Targets
0.22Weak
Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosisOpen Targets
0.19Weak
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeOpen Targets
0.19Weak
Familial progressive cardiac conduction defectOpen Targets
0.10Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.10Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.10Suggestive
Romano-Ward syndromeOpen Targets
0.09Suggestive
Idiopathic ventricular fibrillation, not Brugada typeOpen Targets
0.09Suggestive
sudden cardiac arrestOpen Targets
0.09Suggestive
hypertrophic cardiomyopathyOpen Targets
0.09Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.09Suggestive
atrial fibrillationOpen Targets
0.09Suggestive
cardiac conduction defectOpen Targets
0.08Suggestive
Familial short QT syndromeOpen Targets
0.08Suggestive
catecholaminergic polymorphic ventricular tachycardia 4Open Targets
0.08Suggestive
ventricular fibrillation, paroxysmal familial, type 1Open Targets
0.08Suggestive
familial atrial fibrillationOpen Targets
0.08Suggestive
arrhythmogenic right ventricular dysplasia 5Open Targets
0.08Suggestive
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndromeOpen Targets
0.08Suggestive
arrhythmogenic right ventricular dysplasia 1Open Targets
0.08Suggestive
AMME complexUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COL4A5Protein interaction87%ACSL4Protein interaction87%KCNJ8Protein interaction83%GUCY2FProtein interaction80%AMMECR1Protein interaction80%NXT2Protein interaction80%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
85%
Ovary
31%
Heart
30%
Lung
25%
Liver
11%
Gene Interaction Network
Click a node to explore
KCNE5COL4A5ACSL4KCNJ8GUCY2FAMMECR1NXT2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UJ90
View on AlphaFold ↗
RankingsWhere KCNE5 stands among ~20K protein-coding genes
  • #13,939of 20,598
    Most Researched21
Genes detectedKCNE5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
KCNE4 and KCNE5: K(+) channel regulation and cardiac arrhythmogenesis.
PMID: 27484720
Gene · 2016
1.00
2
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
PMID: 15840476
Heart Rhythm · 2005
0.90
3
OS081. Novel KCNQ3/KCNE5 isoform protein and mRNA expression in first trimester human placentae.
PMID: 26105295
Pregnancy Hypertens · 2012
0.80
4
Deletion in mice of X-linked, Brugada syndrome- and atrial fibrillation-associated Kcne5 augments ventricular K
PMID: 30289750
FASEB J · 2019
0.70
5
KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current.
PMID: 12324418
Biophys J · 2002
0.60