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 chann... See more...

Aliases for KCNE1 Gene

Aliases for KCNE1 Gene

  • Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1 2 3 5
  • Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 1 2 3
  • IKs Producing Slow Voltage-Gated Potassium Channel Subunit Beta Mink 3 4
  • Potassium Voltage-Gated Channel, Isk-Related Family, Member 1 2 3
  • Potassium Voltage-Gated Channel Subfamily E Member 1 3 4
  • Delayed Rectifier Potassium Channel Subunit IsK 3 4
  • Minimal Potassium Channel 3 4
  • Long QT Syndrome 5 2 3
  • JLNS2 2 3
  • LQT5 2 3
  • MinK 2 3
  • Potassium Voltage-Gated Channel, Isk-Related Subfamily, Member 1 3
  • Cardiac Delayed Rectifier Potassium Channel Protein 3
  • Voltage Gated Potassiun Channel Accessory Subunit 3
  • Jervell And Lange-Nielsen Syndrome 2 2
  • LQT2/5 3
  • KCNE1 5
  • JLNS 3
  • ISK 3
  • IsK 2

External Ids for KCNE1 Gene

Previous GeneCards Identifiers for KCNE1 Gene

  • GC21M032398
  • GC21M034739
  • GC21M034741
  • GC21M034743
  • GC21M035818
  • GC21M021297

Summaries for KCNE1 Gene

Entrez Gene Summary for KCNE1 Gene

  • 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]

GeneCards Summary for KCNE1 Gene

KCNE1 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1) is a Protein Coding gene. Diseases associated with KCNE1 include Jervell And Lange-Nielsen Syndrome 2 and Long Qt Syndrome 5. Among its related pathways are Cardiac conduction and Phase 0 - rapid depolarisation. Gene Ontology (GO) annotations related to this gene include voltage-gated potassium channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNE1B.

UniProtKB/Swiss-Prot Summary for KCNE1 Gene

  • Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:19219384). Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr).

Tocris Summary for KCNE1 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNE1 Gene

Additional gene information for KCNE1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNE1 Gene

Genomics for KCNE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNE1

Top Transcription factor binding sites by QIAGEN in the KCNE1 gene promoter:
  • AML1a
  • Egr-1
  • Lhx3a
  • LHX3b
  • p300
  • Sp1
  • SRY

Genomic Locations for KCNE1 Gene

Genomic Locations for KCNE1 Gene
chr21:34,446,688-34,512,210
(GRCh38/hg38)
Size:
65,523 bases
Orientation:
Minus strand
chr21:35,818,988-35,884,573
(GRCh37/hg19)
Size:
65,586 bases
Orientation:
Minus strand

Genomic View for KCNE1 Gene

Genes around KCNE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNE1 Gene

Proteins for KCNE1 Gene

  • Protein details for KCNE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15382-KCNE1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily E member 1
    Protein Accession:
    P15382
    Secondary Accessions:
    • A5H1P2
    • Q8N709
    • Q91Z94

    Protein attributes for KCNE1 Gene

    Size:
    129 amino acids
    Molecular mass:
    14675 Da
    Quaternary structure:
    • Interacts with KCNB1. Interacts with KCNC2 (By similarity). Associates with KCNH2/HERG (PubMed:9230439). Interacts with KNCQ1; targets the complex KNCQ1-KCNE1 to the membrane raft (PubMed:20533308). The complex KNCQ1-KNCE1 interacts with the scolopendra toxin SSD609 (PubMed:26307551).
    SequenceCaution:
    • Sequence=AAH36452.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KCNE1 Gene

neXtProt entry for KCNE1 Gene

Post-translational modifications for KCNE1 Gene

  • Phosphorylation inhibits the potassium current.
  • N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5.
  • Glycosylation at Asn5, Thr7, and Asn26
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCNE1 Gene

Domains & Families for KCNE1 Gene

Gene Families for KCNE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins

Protein Domains for KCNE1 Gene

InterPro:
Blocks:
  • KCNE voltage-gated K+ channel beta subunit family signature
  • KCNE voltage-gated K+ channel beta-1 subunit signature
ProtoNet:

Suggested Antigen Peptide Sequences for KCNE1 Gene

GenScript: Design optimal peptide antigens:
  • Potassium voltage-gated channel subfamily E member (A7LFK2_HUMAN)
  • Potassium voltage-gated channel subfamily E member (A7LFK4_HUMAN)
  • Potassium voltage-gated channel subfamily E member (C7S316_HUMAN)
  • Minimal potassium channel (KCNE1_HUMAN)
  • Potassium voltage-gated channel subfamily E member (Q5DI96_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P15382

UniProtKB/Swiss-Prot:

KCNE1_HUMAN :
  • Belongs to the potassium channel KCNE family.
Family:
  • Belongs to the potassium channel KCNE family.
genes like me logo Genes that share domains with KCNE1: view

Function for KCNE1 Gene

Molecular function for KCNE1 Gene

UniProtKB/Swiss-Prot Function:
Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:19219384). Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr).
GENATLAS Biochemistry:
potassium voltage-gated channel,Isk-related subfamily,member 1,widely expressed,associating with KCNQ1 to generate the slow delayed IKS channel,also associating with KCNH2 (HERG) to modulate the rapid delayed rectifier IKJ channel,central to the control of the heart rate and rhythm

Phenotypes From GWAS Catalog for KCNE1 Gene

Gene Ontology (GO) - Molecular Function for KCNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 contributes_to voltage-gated potassium channel activity IDA 17289006
GO:0005251 contributes_to delayed rectifier potassium channel activity IDA 8900283
GO:0005267 potassium channel activity IEA --
GO:0005515 protein binding IPI 11101505
genes like me logo Genes that share ontologies with KCNE1: view
genes like me logo Genes that share phenotypes with KCNE1: view

Human Phenotype Ontology for KCNE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for KCNE1 Gene

miRTarBase miRNAs that target KCNE1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNE1

Clone Products

  • Addgene plasmids for KCNE1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNE1 Gene

Localization for KCNE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNE1 Gene

Cell membrane. Single-pass type I membrane protein. Apical cell membrane. Membrane raft. Note=Colocalizes with KCNB1 at the plasma membrane (By similarity). Targets to the membrane raft when associated with KCNQ1 (PubMed:20533308). {ECO:0000250 UniProtKB:P15383, ECO:0000269 PubMed:20533308}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNE1 gene
Compartment Confidence
plasma membrane 5
lysosome 4
extracellular 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KCNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome HDA 16780588
GO:0005886 plasma membrane TAS --
GO:0008076 colocalizes_with voltage-gated potassium channel complex IDA 19219384
GO:0009986 cell surface IDA 10400998
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KCNE1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNE1 Gene

Pathways & Interactions for KCNE1 Gene

genes like me logo Genes that share pathways with KCNE1: view

Pathways by source for KCNE1 Gene

1 BioSystems pathway for KCNE1 Gene
1 PharmGKB pathway for KCNE1 Gene
1 KEGG pathway for KCNE1 Gene
1 Qiagen pathway for KCNE1 Gene
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

SIGNOR curated interactions for KCNE1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for KCNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0007605 sensory perception of sound TAS 9020846
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IBA,IMP 9354802
genes like me logo Genes that share ontologies with KCNE1: view

Drugs & Compounds for KCNE1 Gene

(21) Drugs for KCNE1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Indapamide Approved Pharma blocker 38
Potassium Approved, Experimental Pharma 0
Enflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor, activator 2
Promethazine Approved, Investigational Pharma Target, inducer 470
Amiodarone Approved, Investigational Pharma Pore Blocker 138

(5) Additional Compounds for KCNE1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Kaliotoxin
145199-73-1

(4) Tocris Compounds for KCNE1 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9

(2) ApexBio Compounds for KCNE1 Gene

Compound Action Cas Number
Gliquidone 33342-05-1
Tolbutamide CAMP inhibitor 64-77-7
genes like me logo Genes that share compounds with KCNE1: view

Drug Products

Transcripts for KCNE1 Gene

mRNA/cDNA for KCNE1 Gene

8 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNE1

Clone Products

  • Addgene plasmids for KCNE1

Alternative Splicing Database (ASD) splice patterns (SP) for KCNE1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: - - - - -
SP2: - - - - -
SP3: - -
SP4:
SP5: -
SP6: -
SP7: - - - - - -

Relevant External Links for KCNE1 Gene

GeneLoc Exon Structure for
KCNE1

Expression for KCNE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNE1 Gene

mRNA differential expression in normal tissues according to GTEx for KCNE1 Gene

This gene is overexpressed in Whole Blood (x25.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNE1

SOURCE GeneReport for Unigene cluster for KCNE1 Gene:

Hs.121495

mRNA Expression by UniProt/SwissProt for KCNE1 Gene:

P15382-KCNE1_HUMAN
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 portion of epithelial cells.

Evidence on tissue expression from TISSUES for KCNE1 Gene

  • Blood(4.4)
  • Eye(4.2)
  • Heart(3.1)
  • Muscle(3)
  • Nervous system(2.8)
  • Kidney(2.5)
  • Skin(2.4)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNE1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • head
  • inner ear
Thorax:
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
genes like me logo Genes that share expression patterns with KCNE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KCNE1 Gene

Orthologs for KCNE1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNE1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KCNE1 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNE1 31
  • 78 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia KCNE1 31
  • 78 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Kcne1 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KCNE1 31
  • 61 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCNE1 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KCNE1 31
  • 45 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCNE1 31
  • 47 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii AL807829.1 31
  • 28 (a)
OneToOne
Species where no ortholog for KCNE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for KCNE1 Gene

ENSEMBL:
Gene Tree for KCNE1 (if available)
TreeFam:
Gene Tree for KCNE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNE1: view image

Paralogs for KCNE1 Gene

Paralogs for KCNE1 Gene

(2) SIMAP similar genes for KCNE1 Gene using alignment to 6 proteins:

  • KCNE1_HUMAN
  • A7LFK2_HUMAN
  • A7LFK4_HUMAN
  • C7S316_HUMAN
  • Q5DI96_HUMAN
  • Q6FHJ6_HUMAN
genes like me logo Genes that share paralogs with KCNE1: view

Variants for KCNE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNE1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
456874 Likely Benign: Long QT syndrome 34,449,523(-) TG/CA MISSENSE_VARIANT
644369 Uncertain Significance: Long QT syndrome 34,449,436(-) G/C MISSENSE_VARIANT
645995 Uncertain Significance: Long QT syndrome 34,449,631(-) T/A MISSENSE_VARIANT
653746 Uncertain Significance: Long QT syndrome 34,449,493(-) G/T MISSENSE_VARIANT
664862 Uncertain Significance: Long QT syndrome 34,449,525(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KCNE1 Gene

Structural Variations from Database of Genomic Variants (DGV) for KCNE1 Gene

Variant ID Type Subtype PubMed ID
dgv4426n100 CNV gain 25217958
dgv7824n54 CNV gain 21841781
esv2762109 CNV gain 21179565
esv3575386 CNV gain 25503493
esv3646922 CNV loss 21293372
nsv1055429 CNV gain 25217958
nsv475557 CNV novel sequence insertion 20440878
nsv478086 CNV novel sequence insertion 20440878
nsv521323 CNV gain 19592680

Variation tolerance for KCNE1 Gene

Residual Variation Intolerance Score: 71.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.10; 22.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNE1 Gene

Human Gene Mutation Database (HGMD)
KCNE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNE1 Gene

Disorders for KCNE1 Gene

MalaCards: The human disease database

(46) MalaCards diseases for KCNE1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
jervell and lange-nielsen syndrome 2
  • prolonged qt interval in ekg and sudden death
long qt syndrome 5
  • lqt5
hereditary hearing loss and deafness
long qt syndrome
  • romano-ward syndrome
jervell and lange-nielsen syndrome 1
  • jlns1
- elite association - COSMIC cancer census association via MalaCards
Search KCNE1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNE1_HUMAN
  • Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347]: An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. {ECO:0000269 PubMed:10400998, ECO:0000269 PubMed:21676880, ECO:0000269 PubMed:9328483, ECO:0000269 PubMed:9354783}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Long QT syndrome 5 (LQT5) [MIM:613695]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:10400998, ECO:0000269 PubMed:10973849, ECO:0000269 PubMed:11692163, ECO:0000269 PubMed:16414944, ECO:0000269 PubMed:19716085, ECO:0000269 PubMed:25037568, ECO:0000269 PubMed:9354802, ECO:0000269 PubMed:9445165}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KCNE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with KCNE1: view

No data available for Genatlas for KCNE1 Gene

Publications for KCNE1 Gene

  1. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. (PMID: 19716085) Kapplinger JD … Ackerman MJ (Heart rhythm 2009) 3 4 23 41
  2. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. (PMID: 16414944) Napolitano C … Leonardi S (JAMA 2005) 3 4 23 41
  3. A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype. (PMID: 11692163) Schulze-Bahr E … Hoffman S (Journal of molecular medicine (Berlin, Germany) 2001) 3 4 23 41
  4. S38G single-nucleotide polymorphism at the KCNE1 locus is associated with heart failure. (PMID: 20185111) Fatini C … Gensini GF (Heart rhythm 2010) 3 23 41
  5. Regulation of the Kv2.1 potassium channel by MinK and MiRP1. (PMID: 19219384) McCrossan ZA … Abbott GW (The Journal of membrane biology 2009) 3 4 23

Products for KCNE1 Gene

Sources for KCNE1 Gene