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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNE3 Gene

protein-coding   GIFtS: 62
GCID: GC11M074165

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

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Potassium Voltage-Gated Channel, Isk-Related Family, Member 31 2     HYPP2 5
Minimum Potassium Ion Channel-Related Peptide 22 3     MiRP22
MinK-Related Peptide 22 3     Cardiac Voltage-Gated Potassium Channel Accessory Subunit2
Potassium Channel Subunit Beta MiRP22 3     Potassium Voltage-Gated Channel Subfamily E Member 32
HOKPP2 5     Voltage-Gated K+ Channel Subunit MIRP22

External Ids:    HGNC: 62431   Entrez Gene: 100082   Ensembl: ENSG000001755387   OMIM: 6044335   UniProtKB: Q9Y6H63   

Export aliases for KCNE3 gene to outside databases

Previous GC identifers: GC11M076494 GC11M075705 GC11M074388 GC11M073892 GC11M073843 GC11M070461


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KCNE3 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 type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to
modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed
in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. (provided by
RefSeq, Jul 2008)

GeneCards Summary for KCNE3 Gene: 
KCNE3 (potassium voltage-gated channel, Isk-related family, member 3) is a protein-coding gene. Diseases associated with KCNE3 include brugada syndrome 6, and hyperkalemic periodic paralysis, and among its related super-pathways are Potassium Channels. GO annotations related to this gene include potassium channel regulator activity and voltage-gated potassium channel activity.

UniProtKB/Swiss-Prot: KCNE3_HUMAN, Q9Y6H6
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 KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal
muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KCNQ1/KCLQT1 may
form the intestinal cAMP-stimulated potassium channel involved in chloride secretion

summary for KCNE3 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 KCNE3 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNE3 gene promoter:
         AML1a   Brachyury   HSF1 (long)   RelA   NF-kappaB   C/EBPalpha   Arnt   FOXL1   HSF1short   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNE3 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNE3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNE3


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

Entrez Gene cytogenetic band: 11q13.4   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13.4

KCNE3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNE3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M074165:  view genomic region     (about GC identifiers)

Start:
74,165,886 bp from pter      End:
74,178,774 bp from pter
Size:
12,889 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KCNE3_HUMAN, Q9Y6H6 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily E member 3  
Size: 103 amino acids; 11710 Da
Subunit: Associates with KCNC4/Kv3.4. May associate with KCNQ1/KCLQT1
Subcellular location: Membrane; Single-pass type I membrane protein
Caution: Variant His-83 has been associated with periodic paralysis (PubMed:11207363 and PubMed:12414843). The
association could not be confirmed by further studies leading to the conclusion that His-83 does not play a
causative role in the disease (PubMed:14504341 and PubMed:15037716)

Explore the universe of human proteins at neXtProt for KCNE3: NX_Q9Y6H6

Explore proteomics data for KCNE3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6H6

  • KCNE3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNE3 Protein Expression
    REFSEQ proteins: NP_005463.1  
    ENSEMBL proteins: 
     ENSP00000310557   ENSP00000433633   ENSP00000431739   ENSP00000433697   ENSP00000434890  
     ENSP00000435539  

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    Cloud-Clone Corp. Proteins for KCNE3 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    KCNE3 for ontologies           About GeneDecksing



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

    2 InterPro protein domains:
     IPR000369 K_chnl_volt-dep_bsu_KCNE
     IPR005426 K_chnl_volt-dep_bsu_KCNE3

    Graphical View of Domain Structure for InterPro Entry Q9Y6H6

    ProtoNet protein and cluster: Q9Y6H6

    2 Blocks protein domains:
    IPB000369 KCNE voltage-gated K+ channel beta subunit family signature
    IPB005426 KCNE voltage-gated K+ channel beta-3 subunit signature


    UniProtKB/Swiss-Prot: KCNE3_HUMAN, Q9Y6H6
    Similarity: Belongs to the potassium channel KCNE family


    KCNE3 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNE3_HUMAN, Q9Y6H6
    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 KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal
    muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KCNQ1/KCLQT1 may
    form the intestinal cAMP-stimulated potassium channel involved in chloride secretion

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005249voltage-gated potassium channel activity IEA--
    GO:0015459potassium channel regulator activity IEA--
         
    KCNE3 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Kcne3):
     digestive/alimentary  homeostasis/metabolism  no phenotypic analysis  respiratory system 

    KCNE3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KCNE3: Kcne3tm1.1Tjj Kcne3tm1Gwab

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNE3 
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    SwitchGear 3'UTR luciferase reporter plasmidKCNE3 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCNE3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium transporters: outward current0.42
    2Protein digestion and absorption
    Protein digestion and absorption
    3Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway
    4Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KCNE3
        Potassium transporters- outward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNE3
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 PharmGKB Pathway for KCNE3
        Antiarrhythmic Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for KCNE3):
        Protein digestion and absorption


    KCNE3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNE3

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/10 Interacting proteins for KCNE3 (Q9Y6H62, 3 ENSP000003105574) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C11orf68Q9H3H32, 3, ENSP000003983504MINT-8259040 I2D: score=2 STRING: ENSP00000398350
    POLA2Q141812, 3, ENSP000002654654MINT-8259106 I2D: score=2 STRING: ENSP00000265465
    EEF1A1P681042, 3MINT-8259062 I2D: score=2 
    GAPDHP044062, 3MINT-8259073 I2D: score=2 
    KIF5AQ128402, 3MINT-8259095 I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0043266regulation of potassium ion transport IEA--

    KCNE3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KCNE3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Compounds for KCNE3 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]

    3 HMDB Compounds for KCNE3    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    PotassiumK+ (see all 16)7440-09-7--

    1 Novoseek inferred chemical compound relationship for KCNE3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 69.1 14 11207363 (2), 14504341 (1), 19306396 (1), 16308347 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about KCNE3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KCNE3 gene: 
    NM_005472.4  

    Unigene Cluster for KCNE3:

    Potassium voltage-gated channel, Isk-related family, member 3
    Hs.523899  [show with all ESTs]
    Unigene Representative Sequence: NM_005472
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310128(uc001ovd.2 uc001ovc.3) ENST00000525550 ENST00000532569
    ENST00000531854 ENST00000529425 ENST00000526855
    miRNA
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    Additional mRNA sequence: 

    AF076531.1 AF302494.1 AK311876.1 BC110612.2 BC113743.1 CR457209.1 CR936625.1 DQ192291.1 
    DQ192292.1 

    5 DOTS entries:

    DT.97835845  DT.453074  DT.95353663  DT.120695530  DT.310363 

    24/93 AceView cDNA sequences (see all 93):

    BX089345 BM791046 BM768470 BQ010803 BX281441 BQ011369 AI221445 NM_005472 
    BP375230 AI569802 AI373216 BM856487 AI283984 AA494359 AI679463 CK301015 
    AW589787 BQ013893 BM768555 AI991557 BF591220 AI682318 BQ186505 AI692703 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KCNE3    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c
    SP1:              -                           
    SP2:        -     -                           
    SP3:                                          


    ECgene alternative splicing isoforms for KCNE3

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCNE3 expression in normal human tissues (normalized intensities)      KCNE3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATAAATTTAT
    KCNE3 Expression
    About this image


    KCNE3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             neutrophils   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Neural Crest (Gastrulation Derivatives)
             mesenchyme   
     
     Blood Brain Barrier (Nervous System)
             Postnatal Endothelial Cells Blood Brain Barrier
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

    See KCNE3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNE3

    SOURCE GeneReport for Unigene cluster: Hs.523899

    UniProtKB/Swiss-Prot: KCNE3_HUMAN, Q9Y6H6
    Tissue specificity: Widely expressed with highest levels in kidney and moderate levels in small intestine

        SABiosciences Custom PCR Arrays for KCNE3
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNE3

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KCNE3 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcne31 , 5 potassium voltage-gated channel, Isk-related subfamily, more1, 5 86.73(n)1
    93.2(a)1
      7 (54.33 cM)5
    574421  NM_020574.51  NP_065599.11 
     1001766705 
    chicken
    (Gallus gallus)
    Aves KCNE31 potassium voltage-gated channel, Isk-related family, more 68.09(n)
    71.28(a)
      428105  XM_425664.3  XP_425664.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia KCNE32 voltage-gated potassium channel subunit MiRP2 75.18(n)    AF545501.1 


    ENSEMBL Gene Tree for KCNE3 (if available)
    TreeFam Gene Tree for KCNE3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNE3 gene
    2 SIMAP similar genes for KCNE3 using alignment to 6 protein entries:     KCNE3_HUMAN (see all proteins):
    KCNE1L    KCNE5

    KCNE3 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/405 SNPs in KCNE3 are shown (see all 405)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219084411,2,4
    CBrugada syndrome 6 (BRGDA6)4 pathogenic174033612(-) GAACCG/ATGTGT 2 /H /R mis11Minor allele frequency- A:0.00EU 1297
    rs172154371,2,4
    C,Funknown174033660(-) CTCCCG/ACAAAG 2 /H /R mis1 ese38Minor allele frequency- A:0.00NA NS EU 7825
    rs38672781,2
    C,F,A,H--74030720(-) ATAAAA/TTAATA 1 -- ds500112Minor allele frequency- T:0.42NS NA CSA WA EA 1862
    rs413135771,2
    C,F--74030726(+) TTTATG/TATTAT 1 -- ds50015Minor allele frequency- T:0.04NS WA 1434
    rs413129831,2
    C,F--74030810(+) GGAGGC/TCTGCT 1 -- ds50013Minor allele frequency- T:0.00NS 1222
    rs413155311,2
    C,F--74030867(+) CCAACA/GTCTGC 1 -- ds50015Minor allele frequency- G:0.03NS WA 1342
    rs1149220481,2
    F--74031156(+) CATTCA/CTCACC 1 -- ds50011Minor allele frequency- C:0.01WA 118
    rs343157391,2
    C,F--74031253(+) TTTCTG/CAATCT 1 -- ut3111Minor allele frequency- C:0.12NS NA CSA WA EA 1866
    rs1886130831,2
    --74031320(+) AGAGAG/TGAGGA 1 -- ut310--------
    rs725502861,2
    C,F--74031354(+) CACAGG/ATTTGC 1 -- ut311Minor allele frequency- A:0.00--750

    HapMap Linkage Disequilibrium report for KCNE3 (74165886 - 74178774 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for KCNE3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv393CNV Loss18451855
    esv34979CNV Gain17911159
    nsv832209CNV Gain17160897
    nsv897913CNV Gain21882294
    nsv825994CNV Gain20364138
    dgv397e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): KCNE3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNE3
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNE3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604433   
    OMIM disorders: 613119  
    UniProtKB/Swiss-Prot: KCNE3_HUMAN, Q9Y6H6
  • Brugada syndrome 6 (BRGDA6) [MIM:613119]: A tachyarrhythmia characterized by right bundle branch block
    and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the
    blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will
    faint and may die in a few minutes if the heart is not reset. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 14 diseases for KCNE3:    About MalaCards
    brugada syndrome 6    hyperkalemic periodic paralysis    hypokalemic periodic paralysis    brugada syndrome
    periodic paralyses    paralysis    meniere's disease    menieres disease
    familial atrial fibrillation    long qt syndrome    astigmatism    fainting
    neuronitis    gastric cancer

    5 diseases from the University of Copenhagen DISEASES database for KCNE3:
    Hypokalemic periodic paralysis     Long QT syndrome     Familial atrial fibrillation     Brugada syndrome
    Hyperkalemic periodic paralysis

    KCNE3 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for KCNE3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    periodic paralysis 89.2 14 16449802 (3), 14504341 (1), 11207363 (1), 20051516 (1) (see all 5)

    Genetic Association Database (GAD): KCNE3
    Human Genome Epidemiology (HuGE) Navigator: KCNE3 (7 documents)

    Export disorders for KCNE3 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

    PubMed articles for KCNE3 gene, integrated from 9 sources (see all 48):
    (articles sorted by number of sources associating them with KCNE3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome. (PubMed id 19306396)1, 2, 4, 9 Ohno S.... Horie M. (2009)
    2. Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis. (PubMed id 14504341)1, 2, 4, 9 Sternberg D....Fontaine B. (2003)
    3. No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients. (PubMed id 15212652)1, 4, 9 Tang N.L....Cockram C.S. (2004)
    4. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. (PubMed id 11207363)1, 2, 9 Abbott G.W....Goldstein S.A.N. (2001)
    5. Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. (PubMed id 11874988)1, 2, 9 Abbott G.W. and Goldstein S.A.N. (2002)
    6. Genome-wide meta-analysis of five Asian cohorts identi fies PDGFRA as a susceptibility locus for corneal astigmatism. (PubMed id 22144915)1, 4 Fan Q....Saw S.M. (2011)
    7. Polymorphisms in KCNE1 or KCNE3 are not associated wi th MAcniA"re disease in the Caucasian population. (PubMed id 20034061)1, 4 Campbell C.A....Smith R.J. (2010)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    9. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. (PubMed id 19122847)1, 2 Delpon E.... Antzelevitch C. (2008)
    10. Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. (PubMed id 15037716)1, 2 Jurkat-Rott K. and Lehmann-Horn F. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10008 HGNC: 6243 AceView: KCNE3 Ensembl:ENSG00000175538 euGenes: HUgn10008
    ECgene: KCNE3 Kegg: 10008 H-InvDB: KCNE3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KCNE3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KCNE3 gene:
    Search GeneIP for patents involving KCNE3

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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