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

KCNE3 Gene

protein-coding   GIFtS: 61
GCID: GC11M074165

potassium voltage-gated channel, Isk-related family, member...
 Explore 10 diseases affiliated with
KCNE3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KCNE3    

Aliases
for KCNE3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Potassium Voltage-Gated Channel, Isk-Related Family, Member 31 2     Potassium Channel Subunit Beta MiRP22 3
HOKPP1 2 5     HYPP2 5
MiRP21 2     Cardiac Voltage-Gated Potassium Channel Accessory Subunit2
Minimum Potassium Ion Channel-Related Peptide 22 3     Potassium Voltage-Gated Channel Subfamily E Member 32
MinK-Related Peptide 22 3     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


Summaries
for KCNE3 gene

(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:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  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 plasmid: KCNE3 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

Proteins
for KCNE3 gene

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y6H6

    • KCNE3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Uscn 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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    Uscn ELISAs and CLIAs for KCNE3

    Protein Domains /
    Families
    for KCNE3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KCNE3 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 families:
    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


    Function
    for KCNE3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KCNE3
    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate KCNE3 (see all 26):
    hsa-miR-3689b hsa-miR-142-5p hsa-miR-148b* hsa-miR-607 hsa-miR-300 hsa-miR-340 hsa-miR-511 hsa-miR-515-5p
    SwitchGear 3'UTR luciferase reporter plasmid: KCNE3 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KCNE3

    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for KCNE3

    In Situ Assay
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    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


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


    Pathways & Interactions
    for KCNE3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Dopamine-DARPP32 Feedback onto cAMP Pathway
    		Dopamine-DARPP32 Feedback onto cAMP Pathway1.00
    2Protein digestion and absorption
    		Protein digestion and absorption1.00
    3Antiarrhythmic Pathway, Pharmacodynamics
    		Antiarrhythmic Pathway, Pharmacodynamics1.00
    4Potassium Channels
    		Potassium transporters: outward current0.42

    Pathway sources
    See GeneCards unified pathways
    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): 1 biological process term (GO ID links to tree view):    About this table

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


    KCNE3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KCNE3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KCNE3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AM 92016 hydrochlorideKV channel blocker[178894-81-0]
    KN-93CaM kinase II inhibitor. Also K+ channel blocker (KV)[139298-40-1]
    4-AminopyridineNon-selective KV channel blocker[504-24-5]

    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 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 

    Transcripts
    for KCNE3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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
    Products:             		 OriGene 3'-UTR Clone: KCNE3
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KCNE3
    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate KCNE3 (see all 26):
    hsa-miR-3689b hsa-miR-142-5p hsa-miR-148b* hsa-miR-607 hsa-miR-300 hsa-miR-340 hsa-miR-511 hsa-miR-515-5p
    SwitchGear 3'UTR luciferase reporter plasmid: KCNE3 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KCNE3 (see all 7)
    OriGene shRNA RFP: KCNE3
    OriGene siRNA: KCNE3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KCNE3
    Clone
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    Primer
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    Additional cDNA 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):

    BQ011369 BX281441 NM_005472 AI373216 BP375230 AI679463 CK301015 BX089345 
    AI221445 BM791046 BM768470 AA494359 AI283984 AI569802 BM856487 BQ010803 
    AF076531 CR457209 BM817971 BM856255 BU077623 AW589787 BX483211 BQ073084 

    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

    Expression
    for KCNE3 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATAAATTTAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KCNE3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyS-shaped BodyKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)

    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
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNE3

    Orthologs
    for KCNE3 gene

    (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
    for KCNE3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for KCNE3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/358 NCBI SNPs in KCNE3 are shown (see all 358)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219084411,2
    		C,pathogenic97487623(-) GAACCG/ATGTGT 2 /H /R mis11Minor allele frequency- A:0.00EU 1297
    rs172154371,2
    		C,F,unknown97487575(-) CTCCCG/ACAAAG 2 /H /R mis1 ese38Minor allele frequency- A:0.00NA NS EU 7825
    rs413135771,2
    		C,F,--70460742(+) TTTATG/TATTAT 1 -- ds50015Minor allele frequency- T:0.04NS WA 1434
    rs413129831,2
    		C,--70460826(+) GGAGGC/TCTGCT 1 -- ds50013Minor allele frequency- T:0.00NS 1222
    rs413155311,2
    		C,F,--70460883(+) CCAACA/GTCTGC 1 -- ds50015Minor allele frequency- G:0.03NS WA 1342
    rs725502861,2
    		C,--70461370(+) CACAGG/ATTTGC 1 -- ut311Minor allele frequency- A:0.00--750
    rs413155331,2
    		C,F,--70461858(+) GTATAT/AGAAGC 1 -- ut314Minor allele frequency- A:0.01NS WA 1338
    rs413155371,2
    		C,F--70462096(+) TTTTTG/TTTTTT 1 -- ut313Minor allele frequency- T:0.01NS 1138
    rs413135791,2
    		F--70462132(+) ACCCAG/TGCTGG 1 -- ut312Minor allele frequency- T:0.04NS 156
    rs413135811,2
    		C,F,--70462148(+) AGTGGC/TGTGAT 1 -- ut315Minor allele frequency- T:0.00NS NA 1220

    HapMap Linkage Disequilibrium report for KCNE3 (74165886 - 74178774 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for KCNE3
         3 CNVs: 2932 3858 8692
    Human Gene Mutation Database (HGMD): KCNE3

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    Disorders / Diseases
    for KCNE3 gene

    (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.)
    About This Section
    KCNE3 for disorders           About GeneDecksing

    OMIM gene information: 604433   
    OMIM disorders: 613119  
    UniProtKB/Swiss-Prot: KCNE3_HUMAN, Q9Y6H6
  • Defects in KCNE3 are the cause of Brugada syndrome type 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 (called ventricular fibrillation), the individual will faint and may die in a few minutes if the heart is not
    reset

    10 diseases for KCNE3:    About MalaCards
    hypokalemic periodic paralysis    paralysis    brugada syndrome 6    long qt syndrome
    atrial fibrillation    familial atrial fibrillation    brugada syndrome    meniere's disease
    menieres disease    neuronitis

    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

    1 Novoseek 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

    Publications
    for KCNE3 gene

    (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 47):
    (articles sorted by number of sources associating them with KCNE3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome. (PubMed id 19306396)1, 2, 9 Ohno S.... Horie M. (2009)
    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. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. (PubMed id 19122847)1, 2 Delpon E.... Antzelevitch C. (2008)
    7. Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. (PubMed id 15037716)1, 2 Jurkat-Rott K. and Lehmann-Horn F. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. (PubMed id 12414843)1, 2 Dias Da Silva M.R.... Maciel R.M.B. (2002)
    10. Structural determinants of KvLQT1 control by the KCNE family of proteins. (PubMed id 11104781)1, 2 Melman Y.F.... McDonald T.V. (2001)

    External Searches for KCNE3 gene

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

    Genome Databases showing KCNE3 gene

    (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

    Other Databases showing KCNE3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KCNE3 gene

    (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

    Intellectual Property
    for KCNE3 gene

    (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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