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Aliases for KCNE2 Gene

Aliases for KCNE2 Gene

  • Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2 2 3
  • Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 2 2 3 5
  • Potassium Voltage-Gated Channel, Isk-Related Family, Member 2 2 3
  • Minimum Potassium Ion Channel-Related Peptide 1 3 4
  • Potassium Channel Subunit Beta MiRP1 3 4
  • MinK-Related Peptide 1 3 4
  • Cardiac Voltage-Gated Potassium Channel Accessory Subunit 2 3
  • Voltage-Gated K+ Channel Subunit MIRP1 3
  • Potassium Channel Subunit, MiRP1 3
  • MinK-Related Peptide-1 3
  • ATFB4 3
  • MIRP1 3
  • LQT5 3
  • LQT6 3

External Ids for KCNE2 Gene

Previous GeneCards Identifiers for KCNE2 Gene

  • GC21P032313
  • GC21P034656
  • GC21P034658
  • GC21P035736
  • GC21P021214

Summaries for KCNE2 Gene

Entrez Gene Summary for KCNE2 Gene

  • 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]

GeneCards Summary for KCNE2 Gene

KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2) is a Protein Coding gene. Diseases associated with KCNE2 include long qt syndrome 6 and atrial fibrillation, familial, 4. Among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Cardiac conduction. GO annotations related to this gene include protein homodimerization activity and voltage-gated potassium channel activity.

UniProtKB/Swiss-Prot for KCNE2 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. Associated with KCNH2/HERG is proposed to form the rapidly activating component of the delayed rectifying potassium current in heart (IKr). May associate with KCNQ2 and/or KCNQ3 and modulate the native M-type current. May associate with HCN1 and HCN2 and increase potassium current. Interacts with KCNQ1; forms an heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505).

Tocris Summary for KCNE2 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 KCNE2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNE2 Gene

Genomics for KCNE2 Gene

Regulatory Elements for KCNE2 Gene

Genomic Location for KCNE2 Gene

Chromosome:
21
Start:
34,364,024 bp from pter
End:
34,371,389 bp from pter
Size:
7,366 bases
Orientation:
Plus strand

Genomic View for KCNE2 Gene

Genes around KCNE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNE2 Gene

Proteins for KCNE2 Gene

  • Protein details for KCNE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6J6-KCNE2_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily E member 2
    Protein Accession:
    Q9Y6J6
    Secondary Accessions:
    • A5H1P3
    • D3DSF8
    • Q52LJ5

    Protein attributes for KCNE2 Gene

    Size:
    123 amino acids
    Molecular mass:
    14472 Da
    Quaternary structure:
    • Interacts with KCNB1 (By similarity). Associates with KCNH2/ERG1 (PubMed:10219239). May associate with KCNQ2 and KCNQ3 (PubMed:11034315,). Associates with HCN1 and probably HCN2. Heteromultimer with KCNC2. Interacts with KCNC2 (By similarity). Interacts with KCNQ1; forms an heterooligomer complex that targets to the membrane raft and leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505, PubMed:20533308).

    Three dimensional structures from OCA and Proteopedia for KCNE2 Gene

neXtProt entry for KCNE2 Gene

Proteomics data for KCNE2 Gene at MOPED

Post-translational modifications for KCNE2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNE2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for KCNE2 Gene

Domains & Families for KCNE2 Gene

Suggested Antigen Peptide Sequences for KCNE2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6J6

UniProtKB/Swiss-Prot:

KCNE2_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 KCNE2: view

Function for KCNE2 Gene

Molecular function for KCNE2 Gene

GENATLAS Biochemistry:
potassium voltage channel,Isk-related subfamily member,expressed in cardiac and skeletal muscle,associating with KCNH2 (HERG) to generate a rapid delayed-rectifier channel (differing from the channel exclusively made of KCNH2),central to the control of the heart rate and rhythm
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. Associated with KCNH2/HERG is proposed to form the rapidly activating component of the delayed rectifying potassium current in heart (IKr). May associate with KCNQ2 and/or KCNQ3 and modulate the native M-type current. May associate with HCN1 and HCN2 and increase potassium current. Interacts with KCNQ1; forms an heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505).

Gene Ontology (GO) - Molecular Function for KCNE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005249 voltage-gated potassium channel activity IEA --
GO:0005515 protein binding IEA,IPI 11101505
genes like me logo Genes that share ontologies with KCNE2: view
genes like me logo Genes that share phenotypes with KCNE2: view

Human Phenotype Ontology for KCNE2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNE2 Gene

MGI Knock Outs for KCNE2:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNE2

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for KCNE2 Gene

Localization for KCNE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNE2 Gene

Cell membrane; Single-pass type I membrane protein. Note=Colocalizes with KCNB1 at the plasma membrane. {ECO:0000250 UniProtKB:P63161}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNE2 Gene COMPARTMENTS Subcellular localization image for KCNE2 gene
Compartment Confidence
lysosome 5
plasma membrane 5
vacuole 5
nucleus 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KCNE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
genes like me logo Genes that share ontologies with KCNE2: view

Pathways & Interactions for KCNE2 Gene

genes like me logo Genes that share pathways with KCNE2: view

Pathways by source for KCNE2 Gene

1 KEGG pathway for KCNE2 Gene
1 Qiagen pathway for KCNE2 Gene

Interacting Proteins for KCNE2 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000290310%0d%0a9606.ENSP00000155840%0d%0a9606.ENSP00000262186%0d%0a9606.ENSP00000262623%0d%0a
Selected Interacting proteins: Q9Y6J6-KCNE2_HUMAN ENSP00000290310 for KCNE2 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for KCNE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007568 aging IEA --
GO:0010107 potassium ion import IEA,IMP 10219239
GO:0043586 tongue development IEA --
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP 10219239
GO:0061337 cardiac conduction TAS --
genes like me logo Genes that share ontologies with KCNE2: view

No data available for SIGNOR curated interactions for KCNE2 Gene

Drugs & Compounds for KCNE2 Gene

(2) Drugs for KCNE2 Gene - From: Tocris, Novoseek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Experimental Pharma 0
Flupirtine maleate Pharma KV7 channel activator 0

(5) Additional Compounds for KCNE2 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7
PD 118057
313674-97-4

(5) Tocris Compounds for KCNE2 Gene

Compound Action Cas Number
Flupirtine maleate KV7 channel activator 75507-68-5
L-364,373 KV7.1 channel activator, activates IKs 103342-82-1
NS 1643 KV11.1 (hERG) channel activator; antiarrhythmic 448895-37-2
NS 5806 KV4.3 channel activator 426834-69-7
PD 118057 Selective KV11.1 (hERG) channel activator 313674-97-4
genes like me logo Genes that share compounds with KCNE2: view

Transcripts for KCNE2 Gene

mRNA/cDNA for KCNE2 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(26) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNE2 Gene

Potassium voltage-gated channel, Isk-related family, member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNE2 Gene

No ASD Table

Relevant External Links for KCNE2 Gene

GeneLoc Exon Structure for
KCNE2
ECgene alternative splicing isoforms for
KCNE2

Expression for KCNE2 Gene

mRNA expression in normal human tissues for KCNE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNE2 Gene

This gene is overexpressed in Stomach (x45.3).

SOURCE GeneReport for Unigene cluster for KCNE2 Gene Hs.736062

mRNA Expression by UniProt/SwissProt for KCNE2 Gene

Q9Y6J6-KCNE2_HUMAN
Tissue specificity: Highly expressed in brain, heart, skeletal muscle, pancreas, placenta, kidney, colon and thymus. A small but significant expression is found in liver, ovary, testis, prostate, small intestine and leukocytes. Very low expression, nearly undetectable, in lung and spleen.
genes like me logo Genes that share expression patterns with KCNE2: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KCNE2 Gene

Orthologs for KCNE2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNE2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNE2 35
  • 85.37 (n)
  • 86.18 (a)
KCNE2 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNE2 35
  • 89.7 (n)
  • 91.06 (a)
KCNE2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcne2 35
  • 82.66 (n)
  • 84.55 (a)
Kcne2 16
Kcne2 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNE2 35
  • 99.19 (n)
  • 99.19 (a)
KCNE2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcne2 35
  • 82.11 (n)
  • 82.11 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNE2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNE2 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNE2 35
  • 70.49 (n)
  • 71.31 (a)
KCNE2 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNE2 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490092 35
  • 64.51 (n)
  • 60.19 (a)
Species with no ortholog for KCNE2:
  • A. gosspyii yeast (Ashbya 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KCNE2 Gene

ENSEMBL:
Gene Tree for KCNE2 (if available)
TreeFam:
Gene Tree for KCNE2 (if available)

Paralogs for KCNE2 Gene

(1) SIMAP similar genes for KCNE2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KCNE2: view

No data available for Paralogs for KCNE2 Gene

Variants for KCNE2 Gene

Sequence variations from dbSNP and Humsavar for KCNE2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
VAR_008375 -
VAR_008376 Long QT syndrome 6 (LQT6)
VAR_008377 Long QT syndrome 6 (LQT6)
VAR_008378 Long QT syndrome 6 (LQT6)
VAR_015063 Long QT syndrome 6 (LQT6)

Structural Variations from Database of Genomic Variants (DGV) for KCNE2 Gene

Variant ID Type Subtype PubMed ID
nsv834088 CNV Loss 17160897
nsv520827 CNV Loss 19592680

Variation tolerance for KCNE2 Gene

Residual Variation Intolerance Score: 59.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNE2 Gene

HapMap Linkage Disequilibrium report
KCNE2
Human Gene Mutation Database (HGMD)
KCNE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNE2 Gene

Disorders for KCNE2 Gene

MalaCards: The human disease database

(17) MalaCards diseases for KCNE2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 6
  • long qt syndrome-6
atrial fibrillation, familial, 4
  • familial atrial fibrillation 4
familial long qt syndrome
  • congenital long qt syndrome
kcne2-related familial atrial fibrillation
  • familial atrial fibrillation 4
atrial fibrillation
  • a-fib
- elite association - COSMIC cancer census association via MalaCards
Search KCNE2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNE2_HUMAN
  • Atrial fibrillation, familial, 4 (ATFB4) [MIM:611493]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:15368194}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Long QT syndrome 6 (LQT6) [MIM:613693]: 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:10219239, ECO:0000269 PubMed:12185453, ECO:0000269 PubMed:16922724, ECO:0000269 PubMed:19716085}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNE2

Genetic Association Database (GAD)
KCNE2
Human Genome Epidemiology (HuGE) Navigator
KCNE2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNE2
genes like me logo Genes that share disorders with KCNE2: view

No data available for Genatlas for KCNE2 Gene

Publications for KCNE2 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 J.D. … Ackerman M.J. (Heart Rhythm 2009) 3 4 23 48 67
  2. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. (PMID: 10219239) Abbott G.W. … Goldstein S.A.N. (Cell 1999) 2 3 23
  3. KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders. (PMID: 20042375) Wu J. … Horie M. (Heart Rhythm 2010) 3 23
  4. Regulation of the Kv2.1 potassium channel by MinK and MiRP1. (PMID: 19219384) McCrossan Z.A. … Abbott G.W. (J. Membr. Biol. 2009) 3 23
  5. Contribution of long-QT syndrome genetic variants in sudden infant death syndrome. (PMID: 19322600) Millat G. … Rousson R. (Pediatr Cardiol 2009) 3 23

Products for KCNE2 Gene

Sources for KCNE2 Gene

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