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KCNE2 Gene

protein-coding   GIFtS: 63
GCID: GC21P035736

Potassium Voltage-Gated Channel, Isk-Related Family, Member...

  See KCNE2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Potassium Voltage-Gated Channel, Isk-Related Family, Member 21 2     Human MinK-Related Peptide 1, Potassium Channel Subunit, MiRP111
Minimum Potassium Ion Channel-Related Peptide 12 3     LQT52
MinK-Related Peptide 12 3     Cardiac Voltage-Gated Potassium Channel Accessory Subunit 22
Potassium Channel Subunit Beta MiRP12 3     MinK-Related Peptide-12
ATFB42 5     Potassium Channel Subunit, MiRP12
LQT62 5     Potassium Voltage-Gated Channel Subfamily E Member 22
MIRP12 5     Voltage-Gated K+ Channel Subunit MIRP12

External Ids:    HGNC: 62421   Entrez Gene: 99922   Ensembl: ENSG000001591977   OMIM: 6037965   UniProtKB: Q9Y6J63   
ORGUL members:         

Export aliases for KCNE2 gene to outside databases

Previous GC identifers: GC21P032313 GC21P034656 GC21P034658 GC21P021214


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, Isk-related family, member 2) is a protein-coding gene. Diseases associated with KCNE2 include kcne2-related familial atrial fibrillation, and long qt syndrome 6. GO annotations related to this gene include ion channel binding and potassium channel regulator activity.

UniProtKB/Swiss-Prot: KCNE2_HUMAN, Q9Y6J6
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.
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 KCNQ1/KVLTQ1 and elicit a voltage-independent current. May associate with HCN1 and HCN2 and
increase potassium current

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 pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNE2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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Regulatory elements:
   Regulatory transcription factor binding sites in the KCNE2 gene promoter:
         AP-2rep   ER-alpha   GATA-3   GATA-1   GATA-2   E2F-1   E2F   HSF2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNE2 promoter sequence

   Search Chromatin IP Primers for KCNE2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNE2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.12   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.1
Nature(405: 311-319) cytogenetic band:   21q22.12
KCNE2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNE2 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P035736:   GeneLoc Nature:405,311-319
Start:
35,736,323 bp from pter       21,319,354 bp from centromere
End:
35,743,688 bp from pter 21,320,085 bp from centromere
Size:
7,366 bases 732 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: AF071002
genomic clones: pQ12C8


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KCNE2_HUMAN, Q9Y6J6 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily E member 2  
Size: 123 amino acids; 14472 Da
Subunit: Associates with KCNH2/ERG1. May associate with KCNQ1/KVLQT1, KCNQ2 and KCNQ3. Associates with HCN1 and
probably HCN2 (By similarity)
Secondary accessions: A5H1P3 D3DSF8 Q52LJ5

Explore the universe of human proteins at neXtProt for KCNE2: NX_Q9Y6J6

Post-translational modifications: 

  • Glycosylation2 at Asn6, Asn29
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins: NP_751951.1  
    ENSEMBL proteins: 
     ENSP00000290310  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KCN: Potassium channels

    2 InterPro protein domains:
     IPR000369 K_chnl_volt-dep_bsu_KCNE
     IPR005425 K_chnl_volt-dep_bsu_KCNE2

    Graphical View of Domain Structure for InterPro Entry Q9Y6J6

    ProtoNet protein and cluster: Q9Y6J6

    2 Blocks protein domains:
    IPB000369 KCNE voltage-gated K+ channel beta subunit family signature
    IPB005425 KCNE voltage-gated K+ channel beta-2 subunit signature


    UniProtKB/Swiss-Prot: KCNE2_HUMAN, Q9Y6J6
    Similarity: Belongs to the potassium channel KCNE family


    Find genes that share domains with KCNE2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNE2_HUMAN, Q9Y6J6
    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.
    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 KCNQ1/KVLTQ1 and elicit a voltage-independent current. May associate with HCN1 and HCN2 and
    increase potassium current

         Genatlas biochemistry entry for KCNE2:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242contributes to inward rectifier potassium channel activity IDA10219239
    GO:0005249voltage-gated potassium channel activity ----
    GO:0005251contributes to delayed rectifier potassium channel activity IDA10219239
    GO:0005515protein binding ----
    GO:0015459potassium channel regulator activity IDA10219239
         
    Find genes that share ontologies with KCNE2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for KCNE2:
     Decreased viability of wild-ty  Increased G2M DNA content 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Kcne2):
     digestive/alimentary  hematopoietic system  homeostasis/metabolism  immune system 

    Find genes that share phenotypes with KCNE2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for KCNE2: Kcne2tm1Gwab Kcne2tm1Lex

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNE2
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    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate KCNE2:
    hsa-miR-203 hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidKCNE2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCNE2_HUMAN, Q9Y6J6: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    plasma membrane4
    nucleus2
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA16780588
    GO:0005886plasma membrane IDA16780588
    GO:0008076voltage-gated potassium channel complex IDA10219239
    GO:0009986cell surface IDA--
    GO:0016020membrane ----

    Find genes that share ontologies with KCNE2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNE2 About    
    See pathways by source

    SuperPathContained pathways About
    1Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics
    2Salivary secretion
    Gastric acid secretion0.34
    3Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway


    Find genes that share SuperPaths with KCNE2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNE2
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    2 PharmGKB Pathways for KCNE2
        Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for KCNE2):
        Gastric acid secretion

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCNE2
    Interactions:

        GeneGlobe Interaction Network for KCNE2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for KCNE2 (Q9Y6J63 ENSP000002903104) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNH2Q128093, ENSP000002621864I2D: score=1 STRING: ENSP00000262186
    KCNQ1P517873, ENSP000001558404I2D: score=2 STRING: ENSP00000155840
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0007568aging IEA--
    GO:0010107potassium ion import IMP10219239
    GO:0034613cellular protein localization IEA--
    GO:0035690cellular response to drug IDA10219239

    Find genes that share ontologies with KCNE2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for KCNE2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
    XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
    JNJ 303Potent and selective IKs blocker[878489-28-2]
    E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
    ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]

    1 HMDB Compound for KCNE2    About this table
    CompoundSynonyms CAS #PubMed Ids
    PotassiumK+ (see all 16)7440-09-7--

    2 Novoseek inferred chemical compound relationships for KCNE2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 71.2 29 15368194 (2), 11259355 (1), 18221016 (1), 18634977 (1) (see all 16)
    sodium 36.7 7 11259355 (1), 10898405 (1), 10816797 (1), 11050278 (1) (see all 6)



    Find genes that share compounds with KCNE2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KCNE2 gene: 
    NM_172201.1  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000290310(uc002ytt.1)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat KCNE2

    Selected AceView cDNA sequences (see all 26):

    CB104833 BM783832 NM_172201 AF071002 AF302095 CD619898 BG221966 CD619896 
    CD619897 CD619900 CO245917 CO246762 CO245778 CO249699 CO246672 CO249201 
    CO249094 CO249586 CO248577 CO247601 CO245676 CO247449 CO250230 CO248680 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KCNE2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGATTATGT
    KCNE2 Expression
    About this image


    KCNE2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Fourth Ventricle
     
     Neurons
             Mature Rod Bipolar Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Mature Rod Bipolar Cells Inner Nuclear Layer
     
     Neural Tube (Nervous System)
             Lateral Rhombic Lip Progenitor Cells Rhombencephalon
    KCNE2 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    UniProtKB/Swiss-Prot: KCNE2_HUMAN, Q9Y6J6
    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNE2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KCNE2 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcne21 , 5 potassium voltage-gated channel, Isk-related subfamily, more1, 5 82.66(n)1
    84.55(a)1
      16 (53.55 cM)5
    2461331  NM_134110.31  NP_598871.11 
     922923895 
    chicken
    (Gallus gallus)
    Aves KCNE21 potassium voltage-gated channel, Isk-related family, more 70.49(n)
    71.31(a)
      427979  XM_004934533.1  XP_004934590.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNE26
    potassium voltage-gated channel, Isk-related famil...
    68(a)
    1 ↔ 1
    3(142529203-142529550)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004900921 potassium voltage-gated channel subfamily E member more 64.51(n)
    60.19(a)
      100490092  XM_002937507.1  XP_002937553.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNE2 gene
    1 SIMAP similar gene for KCNE2 using alignment to 2 protein entries:     KCNE2_HUMAN (see all proteins):
    KCNE1

    Find genes that share paralogs with KCNE2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCNE2 (see all 285)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
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    ----------
    rs169916521,2,,4
    C,FLong QT syndrome 6 (LQT6)4 other126289396(+) TCACAC/GAGACG 2 Q E mis1 ese38Minor allele frequency- G:0.01NS NA WA 6540
    rs743154481,2,,4
    C,FLong QT syndrome 6 (LQT6)4 pathogenic126289541(+) GATGAT/CTGGAA 2 /T /I mis12Minor allele frequency- C:0.00NA EU 5875
    rs169916541,2,,4
    C,HLong QT syndrome 6 (LQT6)4 pathogenic126289549(+) GAATGT/CTCTCT 2 /L /F mis18Minor allele frequency- C:0.00NS EA NA 1628
    VAR_0150634
    Long QT syndrome 6 (LQT6)4--see VAR_0150632 V M mis40--------
    VAR_0083774
    Long QT syndrome 6 (LQT6)4--see VAR_0083772 M T mis40--------
    VAR_0353864
    Long QT syndrome 6 (LQT6)4--see VAR_0353862 R W mis40--------
    VAR_0377954
    Atrial fibrillation, familial, 4 (ATFB4)4--see VAR_0377952 R C mis40--------
    rs743154491,2
    Cpathogenic126289450(+) ATTGGC/TGCCAG 2 R C mis10--------
    rs743154471,2
    Cpathogenic126289532(+) CCTCAT/CGGTGA 2 /T /M mis11Minor allele frequency- C:0.00NA 4552
    rs22349161,2,,4
    C,Funtested126289393(+) ATTTCA/GCACAG 2 T A mis1 ese37Minor allele frequency- G:0.01NS NA EU 7733

    HapMap Linkage Disequilibrium report for KCNE2 (35736323 - 35743688 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KCNE2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv520827CNV Loss19592680
    nsv834088CNV Loss17160897

    Human Gene Mutation Database (HGMD): KCNE2
    Locus Specific Mutation Databases (LSDB): KCNE2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNE2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603796   
    OMIM disorders: 613693  611493  
    UniProtKB/Swiss-Prot: KCNE2_HUMAN, Q9Y6J6
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 11 diseases for KCNE2:    
    About MalaCards
    kcne2-related familial atrial fibrillation    long qt syndrome 6    atrial fibrillation, familial, 4    familial atrial fibrillation
    gastroparesis    atrioventricular block    congenital heart block    erythromelalgia
    long qt syndrome 1    long qt syndrome    atrial fibrillation, familial, 9

    4 diseases from the University of Copenhagen DISEASES database for KCNE2:
    Long QT syndrome     Familial atrial fibrillation     Brugada syndrome     Congenital heart block

    Find genes that share disorders with KCNE2           About GenesLikeMe

    7 Novoseek inferred disease relationships for KCNE2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    long qt syndrome 93.5 16 10219239 (1), 11289718 (1), 14760488 (1), 19214780 (1) (see all 12)
    romano-ward syndrome 87 3 10898405 (1), 18752142 (1), 10973849 (1)
    atrial fibrillation, familial 83.9 1 15368194 (1)
    death sudden 73.4 2 11289718 (1), 14642002 (1)
    arrhythmia 72.4 16 18006462 (2), 18221016 (1), 11468227 (1), 19219384 (1) (see all 9)
    ventricular fibrillation 52.1 1 10219239 (1)
    heart diseases 32.7 1 14642002 (1)

    GeneTests: KCNE2
    GeneReviews: KCNE2
    Genetic Association Database (GAD): KCNE2
    Human Genome Epidemiology (HuGE) Navigator: KCNE2 (38 documents)

    Export disorders for KCNE2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for KCNE2 gene, integrated from 10 sources (see all 133):
    (articles sorted by number of sources associating them with KCNE2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. (PubMed id 10219239)1, 2, 3, 9 Abbott G.W.... Goldstein S.A.N. (Cell 1999)
    2. Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics. (PubMed id 12185453)1, 2, 9 Isbrandt D....Schulze-Bahr E. (J. Mol. Med. 2002)
    3. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. (PubMed id 15368194)1, 2, 9 Yang Y.... Chen Y. (Am. J. Hum. Genet. 2004)
    4. Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. (PubMed id 16487223)1, 4, 9 Koo S.H....Lee E.J. (Br J Clin Pharmacol 2006)
    5. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. (PubMed id 14760488)1, 4, 9 Paulussen A.D....Aerssens J. (J. Mol. Med. 2004)
    6. Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. (PubMed id 14661677)1, 4, 9 Ackerman M.J....Curran M.E. (Mayo Clin. Proc. 2003)
    7. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. (PubMed id 19716085)1, 4, 9 Kapplinger J.D....Ackerman M.J. (Heart Rhythm 2009)
    8. Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition. (PubMed id 17275752)1, 4, 9 Chevalier P....Rodriguez-Lafrasse C. (Heart Rhythm 2007)
    9. Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. (PubMed id 16818214)1, 4, 9 Tester D.J....Ackerman M.J. (Heart Rhythm 2006)
    10. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. (PubMed id 16414944)1, 4, 9 Napolitano C....Leonardi S. (JAMA 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 9992 HGNC: 6242 AceView: KCNE2 Ensembl:ENSG00000159197 euGenes: HUgn9992
    ECgene: KCNE2 Kegg: 9992 H-InvDB: KCNE2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KCNE2 Pharmacogenomics, SNPs, Pathways
    LQTSdbhttp://Www.ssi.dk/en/forskning/lqtsdb/kcne2.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KCNE2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for KCNE2 gene:
    Search GeneIP for patents involving KCNE2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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