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

KCNE2 Gene

protein-coding   GIFtS: 66
GCID: GC21P035736

potassium voltage-gated channel, Isk-related family, member...
 Explore 19 diseases affiliated with
KCNE2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KCNE2    

Aliases
for KCNE2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Potassium Voltage-Gated Channel, Isk-Related Family, Member 21 2     Human MinK-Related Peptide 1, Potassium Channel Subunit, MiRP111
LQT61 2 5     LQT52
Minimum Potassium Ion Channel-Related Peptide 12 3     Cardiac Voltage-Gated Potassium Channel Accessory Subunit 22
MinK-Related Peptide 12 3     MinK-Related Peptide-12
Potassium Channel Subunit Beta MiRP12 3     Potassium Channel Subunit, MiRP12
ATFB42 5     Potassium Voltage-Gated Channel Subfamily E Member 22
MIRP12 5     Voltage-Gated K+ Channel Subunit MIRP12
MiRP11     

External Ids:    HGNC: 62421   Entrez Gene: 99922   Ensembl: ENSG000001591977   OMIM: 6037965   UniProtKB: Q9Y6J63   
ORGUL members:         
NONCODE:n337073    

Export aliases for KCNE2 gene to outside databases

Previous GC identifers: GC21P032313 GC21P034656 GC21P034658 GC21P021214


Summaries
for KCNE2 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 KCNE2:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011512.11  
Regulatory elements:
   SABiosciences 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 plasmid: KCNE2 promoter sequence

   Search SABiosciences Chromatin IP Primers for KCNE2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 35,743,440 bp from pter 21,320,085 bp from centromere
Size:
 7,118 bases 732 bases
Orientation:
 plus strand plus strand

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


Proteins
for KCNE2 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: 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)
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: A5H1P3 D3DSF8 Q52LJ5

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y6J6

    • KCNE2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_751951.1  
    ENSEMBL proteins: 
     ENSP00000290310  

    Human Recombinant Protein Products: 
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    Novus Biologicals KCNE2 Proteins
    Novus Biologicals KCNE2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for KCNE2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA16780588
    GO:0005886plasma membrane IDA16780588
    GO:0008076voltage-gated potassium channel complex IEA--
    GO:0016021integral to membrane ----


    KCNE2 for ontologies           About GeneDecksing



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    Uscn Antibodies for KCNE2
    ThermoFisher Antibodies for KCNE2

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    Uscn ELISAs and CLIAs for KCNE2

    Protein Domains /
    Families
    for KCNE2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KCNE2 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 families:
    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


    Function
    for KCNE2 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: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KCNE2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate KCNE2:
    hsa-miR-203 hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmid: KCNE2 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KCNE2

    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for KCNE2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNE2

    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--


    KCNE2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for KCNE2: Kcne2tm1Gwab Kcne2tm1Lex
         4 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Kcne2):
     digestive/alimentary  hematopoietic system  homeostasis/metabolism  immune system 

    KCNE2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for KCNE2 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
    1Antiarrhythmic Pathway, Pharmacodynamics
    		Antiarrhythmic Pathway, Pharmacodynamics1.00
    2Dopamine-DARPP32 Feedback onto cAMP Pathway
    		Dopamine-DARPP32 Feedback onto cAMP Pathway1.00
    3Gastric acid secretion
    		Gastric acid secretion1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN 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


    KCNE2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport TAS10219239
    GO:0006936muscle contraction TAS10219239
    GO:0008015blood circulation NAS10219239
    GO:0008016regulation of heart contraction TAS10219239
    GO:0034613cellular protein localization IEA--


    KCNE2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KCNE2 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

    KCNE2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Compounds for KCNE2 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]

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

    Search CenterWatch for drugs/clinical trials and news about KCNE2 

    Transcripts
    for KCNE2 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 KCNE2 gene: 
    NM_172201.1  

    Unigene Cluster for KCNE2:

    Potassium voltage-gated channel, Isk-related family, member 2
    Hs.736062  [show with all ESTs]
    Unigene Representative Sequence: AF302095
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000290310(uc002ytt.1)

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KCNE2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate KCNE2:
    hsa-miR-203 hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmid: KCNE2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF302095.1 BC093892.1 BC112087.1 DQ192290.1 

    2 DOTS entries:

    DT.440623  DT.100747165 

    24/26 AceView cDNA sequences (see all 26):

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

    GeneLoc Exon Structure


    Expression
    for KCNE2 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

    KCNE2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGATTATGT

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

    KCNE2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeRhombencephalonLateral Rhombic Lip Progenitor CellsChoroid Plexus
    EyeInner Nuclear LayerMature Rod Bipolar CellsBipolar, Retina
    OvaryPrimary FollicleGranulosa CellsOvary
    OvaryPrimordial FolliclePre-Granulosa CellsOvary
    BrainChoroid PlexusBrain
    BrainFourth VentricleBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KCNE2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNE2

    SOURCE GeneReport for Unigene cluster: Hs.736062

    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

        SABiosciences Custom PCR Arrays for KCNE2
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNE2

    Orthologs
    for KCNE2 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 KCNE2 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 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_425549.2  XP_425549.2 
    lizard
    (Anolis carolinensis)    		 Reptilia KCNE26
    		 --
    		 69(a)
    		 1 ↔ 1
    		 3(142529203-142529550)


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

    Paralogs
    for KCNE2 gene

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

    Genomic Variants
    for KCNE2 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

    10/238 NCBI SNPs in KCNE2 are shown (see all 238)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs743154491,2
    		Cpathogenic21221293(+) ATTGGC/TGCCAG 2 R C mis10--------
    rs743154471,2
    		Cpathogenic21221375(+) CCTCAT/CGGTGA 2 /T /M mis11Minor allele frequency- C:0.00NA 4552
    rs743154481,2
    		C,F,pathogenic21221384(+) GATGAT/CTGGAA 2 /T /I mis12Minor allele frequency- C:0.00NA EU 5875
    rs169916541,2
    		C,Hpathogenic21221392(+) GAATGT/CTCTCT 2 /L /F mis18Minor allele frequency- C:0.00NS EA NA 1628
    rs22349161,2
    		C,F,untested21221236(+) ATTTCA/GCACAG 2 T A mis1 ese37Minor allele frequency- G:0.01NS NA EU 7733
    rs1421536921,2
    		C,F,untested21221254(+) AAGACG/ATCTTC 2 /I /V mis11Minor allele frequency- A:0.00NA 4518
    rs1489684981,2
    		Cuntested21221294(+) TTGGCG/ACCAGA 2 /H /R mis11Minor allele frequency- A:0.00NA 4552
    rs1994733641,2
    		Cuntested21221407(+) TCATCA/C/GTGGCC 3 M L V mis10--------
    rs169916561,2
    		C,Huntested21221411(+) CGTGGC/TCATCC 2 A V mis1 ese39Minor allele frequency- T:0.00NS EA NA 1640
    rs1414234051,2
    		Cuntested21221443(+) AGAGAC/TGGGAA 2 R W mis11Minor allele frequency- T:0.00NA 4552

    HapMap Linkage Disequilibrium report for KCNE2 (35736323 - 35743440 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for KCNE2
         2 CNVs: 34534 50771
    Human Gene Mutation Database (HGMD): KCNE2

    Locus Specific Mutation Databases (LSDB): KCNE2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KCNE2
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    Disorders / Diseases
    for KCNE2 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
    KCNE2 for disorders           About GeneDecksing

    OMIM gene information: 603796   
    OMIM disorders: 613693  611493  
    UniProtKB/Swiss-Prot: KCNE2_HUMAN, Q9Y6J6
  • Defects in KCNE2 are the cause of long QT syndrome type 6 (LQT6) [MIM:613693]. Long QT syndromes are heart
    • disorders 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. KCNE2 mutants form channels that open slowly and
    close rapidly, thereby diminishing potassium currents
  • Defects in KCNE2 are the cause of familial atrial fibrillation type 4 (ATFB4) [MIM:611493]. Atrial
    • fibrillation is a common disorder of cardiac rhythm that is hereditary in a small subgroup of patients. It 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

    19 diseases for KCNE2:    About MalaCards
    long qt syndrome 6    long qt syndrome    atrial fibrillation    sudden infant death syndrome
    heart block    congenital heart block    familial atrial fibrillation    ventricular tachycardia
    brugada syndrome    gastroparesis    myocardial infarction    gastritis
    migraine    twinning    seizures    neuronitis
    cholesterol    schizophrenia    prostatitis

    3 diseases from the University of Copenhagen DISEASES database for KCNE2:
    Long QT syndrome     Familial atrial fibrillation     Brugada syndrome

    7 Novoseek 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
    Romano-Ward Syndrome

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

    Export disorders for KCNE2 gene to outside databases

    Publications
    for KCNE2 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 KCNE2 gene, integrated from 9 sources (see all 128):
    (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. (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. (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. (2004)
    4. 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. (2004)
    5. 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. (2003)
    6. 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)
    7. Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study. (PubMed id 15746444)1, 4, 9 Pfeufer A....Kaab S. (2005)
    8. Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome. (PubMed id 11289718)1, 4, 9 Itoh T....Tanaka T. (2001)
    9. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. (PubMed id 15840476)1, 4 Tester D.J....Ackerman M.J. (2005)
    10. Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. (PubMed id 15176425)1, 4 Fodstad H....Kontula K. (2004)

    External Searches for KCNE2 gene

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

    Genome Databases showing KCNE2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9992 HGNC: 6242 AceView: KCNE2 Ensembl:ENSG00000159197 euGenes: HUgn9992
    ECgene: KCNE2 Kegg: 9992 H-InvDB: KCNE2

    Other Databases showing KCNE2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KCNE2 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 KCNE2 Pharmacogenomics, SNPs, Pathways
    LQTSdbhttp://Www.ssi.dk/en/forskning/lqtsdb/kcne2.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNE2

    Intellectual Property
    for KCNE2 gene

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