Gene Gene information from NCBI Gene database.
Entrez ID 3753
Gene name Potassium voltage-gated channel subfamily E regulatory subunit 1
Gene symbol KCNE1
Synonyms (NCBI Gene)
ISKJLNSJLNS2LQT2/5LQT5MinK
Chromosome 21
Chromosome location 21q22.12
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
SNPs SNP information provided by dbSNP.
23
SNP ID Visualize variation Clinical significance Consequence
rs1805128 C>T Pathogenic, risk-factor, likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, other Missense variant, coding sequence variant
rs28933384 G>A Pathogenic, not-provided Missense variant, coding sequence variant
rs74315445 C>T Pathogenic, uncertain-significance, likely-pathogenic Missense variant, coding sequence variant
rs74315446 G>A,C Pathogenic, uncertain-significance, not-provided Missense variant, coding sequence variant
rs79654911 C>A,T Uncertain-significance, not-provided, likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
113
miRTarBase ID miRNA Experiments Reference
MIRT002924 hsa-miR-1-3p Luciferase reporter assayWestern blot5'RACEReal time RT-PCR 17443681
MIRT002924 hsa-miR-1-3p Luciferase reporter assayWestern blot5'RACEReal time RT-PCR 17443681
MIRT002924 hsa-miR-1-3p Luciferase reporter assayWestern blot5'RACEReal time RT-PCR 17443681
MIRT002924 hsa-miR-1-3p Luciferase reporter assayWestern blot5'RACEReal time RT-PCR 17443681
MIRT002924 hsa-miR-1-3p Luciferase reporter assayWestern blot 17443681
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67
GO ID Ontology Definition Evidence Reference
GO:0002070 Process Epithelial cell maturation IEA
GO:0005249 Function Voltage-gated potassium channel activity IDA 9230439
GO:0005249 Function Voltage-gated potassium channel activity IDA 17289006
GO:0005251 Function Delayed rectifier potassium channel activity IBA
GO:0005251 Function Delayed rectifier potassium channel activity IDA 8900283, 9354802, 10400998, 11299204, 12522251, 19646991
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176261 6240 ENSG00000180509
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P15382
Protein name Potassium voltage-gated channel subfamily E member 1 (Delayed rectifier potassium channel subunit IsK) (IKs producing slow voltage-gated potassium channel subunit beta Mink) (Minimal potassium channel) (MinK)
Protein function Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. KCNE1 beta subunit modulates the gatin
PDB 2K21
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02060 ISK_Channel 2 126 Slow voltage-gated potassium channel Family
Tissue specificity TISSUE SPECIFICITY: Expressed in lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Expressed in the heart (PubMed:19219384). Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane po
Sequence
Sequence length 129
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Adrenergic signaling in cardiomyocytes   Phase 3 - rapid repolarisation
Phase 2 - plateau phase
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
883
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiovascular phenotype Likely pathogenic; Pathogenic rs2123459914, rs1131691762, rs1555843898 RCV005652713
RCV002383948
RCV005652386
Congenital long QT syndrome Pathogenic rs199473354, rs28933384 RCV000119066
RCV000119076
Hereditary hearing loss and deafness Pathogenic rs1601044831 RCV001003417
Jervell and Lange-Nielsen syndrome 2 Likely pathogenic; Pathogenic rs281865421, rs28933384, rs1131691762, rs758346045, rs1244688796, rs779124360 RCV000014417
RCV000014418
RCV002475977
RCV000659247
RCV000659249
RCV000659248
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arrhythmogenic right ventricular cardiomyopathy Conflicting classifications of pathogenicity; Uncertain significance rs74315445, rs755781709 RCV005054138
RCV000852544
Cardiac arrhythmia Likely benign rs187686559 RCV001841529
Cardiomyopathy Uncertain significance; Conflicting classifications of pathogenicity; other; risk factor rs150454912, rs1805128, rs199473353 RCV000852542
RCV000852954
RCV000852955
Hypertrophic cardiomyopathy Uncertain significance rs146614850 RCV000498729
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 23535507
Aortic Dissection Associate 35178459
Arrhythmias Cardiac Associate 19019189, 19340287, 30461122, 31308327, 31337358, 33040543, 36921038
Atrial Fibrillation Associate 19305639, 21924735, 21967835, 22471742, 23020083, 25234231, 32164657, 38139087
Atrial Remodeling Associate 38139087
Blast Injuries Associate 31621494
Brugada Syndrome Associate 21967835
Cardiomyopathy Hypertrophic Associate 38139087
Deafness Associate 25234231, 33040543
Death Sudden Associate 30461122