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KCNH2 Gene

protein-coding   GIFtS: 68

GC07M150272
potassium voltage-gated channel, subfamily H (eag-related), member 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: LQT2)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
ERG 3
ERG1 2, 3
Erg1 3
H-ERG 3
HERG 1, 2, 3, 5
HERG1 2, 3
Kv11.1 1, 2
LQT2 2, 5
SQT1 2, 5
erg1 1
Descriptions
Eag-related protein 1 3
Ether-a-go-go-related gene potassium channel 1 3
Ether-a-go-go-related protein 1 3
Voltage-gated potassium channel subunit Kv11.1 3
eag homolog 3
ether-a-go-go-related potassium channel protein 2
potassium voltage-gated channel, subfamily H (eag-related),
member 2 2
voltage-gated potassium channel, subfamily H, member 2 2
External Ids
HGNC: 62511
Entrez Gene: 37572
UniProtKB: Q128093
Ensembl: ENSG000000551187
Search outside databases for aliases for KCNH2 gene

Previous GC identifers: GC07M148888 GC07M149956 GC07M150033 GC07M150079

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for KCNH2:
This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares
sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause
long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been
identified. [provided by RefSeq]

UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809
Function: Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel.
Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating
component of the delayed rectifying potassium current in heart (IKr). Isoform 3 has no channel
activity by itself, but modulates channel characteristics when associated with isoform 1

Gene Wiki entry for KCNH2 (HERG)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the KCNH2 gene  

Entrez Gene cytogenetic band: 7q35-q36   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q36.1

KCNH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M150272:     (about GC identifiers)

Start:
150,272,982 bp from pter
End:
150,306,335 bp from pter
Size:
33,354 bases
Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 149,971,338-150,004,310     
RefSeq DNA sequence:
NC_000007.12  NT_007914.14  NT_079596.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily H member 2  
Size: 1159 amino acids; 126655 Da
Subunit: The potassium channel is probably composed of a homo- or heterotetrameric complex of
pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer with
KCNH6/ERG2 and KCNH7/ERG3. Interacts with ALG10B (By similarity). Heteromultimer with KCNE1 and
KCNE2
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=CAA09232.1; Type=Erroneous gene model prediction;
PDB structure from and Proteopedia :
1BYW (3D)    1UJL (3D)    
Secondary accessions: O75418 O75680 Q9BT72 Q9BUT7 Q9H3P0
Alternative splicing: 4 isoforms:  Q12809-1   Q12809-2   Q12809-3   Q12809-4   (Experimental confirmation may be lacking for some isoforms)

Post-translational modifications:

  • Phosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (3 alternative transcripts): 
    NP_000229.1  NP_742053.1  NP_742054.1  


    ENSEMBL proteins: 
    ENSP00000262186 ENSP00000328531 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Millipore Purified and/or Recombinant KCNH2 Protein
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (KCNH2)
    Human Recombinant Proteins from Abnova (KCNH2)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008076 voltage-gated potassium channel complex TAS7736582
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for KCNH2: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of KCNH2
    Sigma-Aldrich Antibodies for KCNH2
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (KCNH2), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for KCNH2

    Assays for KCNH2: 
    Invitrogen Assays for KCNH2
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    5/10 InterPro domains/families (see all 10 ):
     IPR018488 cNMP_bd_CS
     IPR005821 Ion_trans
     IPR003967 K_chnl_volt-dep_ERG
     IPR000595 cNMP_bd
     IPR001610 PAC


       GeneDecks  KCNH2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q12809

    ProtoNet protein and cluster: Q12809

    5/6 Blocks protein families (see all 6 ):
    IPB000014 PAS domain
    IPB000595 Cyclic nucleotide-binding domain
    IPB001610 PAC motif
    IPB003938 EAG/ELK/ERG potassium channel family signature
    IPB003967 ERG potassium channel family signature


    UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of
    positively charged amino acids at every third position
    Similarity: Belongs to the potassium channel family. H (Eag) subfamily
    Similarity: Contains 1 cyclic nucleotide-binding domain
    Similarity: Contains 1 PAC (PAS-associated C-terminal) domain
    Similarity: Contains 1 PAS (PER-ARNT-SIM) domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KCNH2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNH2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000238

                  Applied Biosystems Silencer® siRNAs for KCNH2

                  Sigma-Aldrich siRNA and siRNA Panels for KCNH2  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNH2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Millipore Clones for the Expression of KCNH2
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000238
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000238
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_000238 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000238

    UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809
    Function: Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel.
    Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating
    component of the delayed rectifying potassium current in heart (IKr). Isoform 3 has no channel
    activity by itself, but modulates channel characteristics when associated with isoform 1

    Genatlas biochemistry entry for KCNH2:
    potassium voltage-gated channel,Drosophila ether-a-go-go (eag)-related subfamily H,with homology to
    cyclic nucleotide gated channel,similar to IKr,the cardiac rapid delayed rectified potassium
    channel

    1 MGI mutant phenotype (inferred from 1 allele(MGI details for Kcnh2):


    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000155 two-component sensor activity IEA--
    GO:0005244 voltage-gated ion channel activity IEA--
    GO:0005251 delayed rectifier potassium channel activity TAS7736582
    GO:0030955 potassium ion binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    2 Millipore Pathways for KCNH2
      inward current
      outward current

       GeneDecks  KCNH2 for the pathways selected above  
    About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" Pathways for  KCNH2  (Your Favorite Gene powered by Ingenuity) 
     Cellular Effects of Sildenafil (Viagra)
     Neuropathic Pain Signaling In Dorsal Horn Neurons

       GeneDecks  KCNH2 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  KCNH2 


    5/71 Interacting proteins for KCNH2 (ENSP000002621863 Q128092) via UniProtKB, MINT, and/or STRING (see all 71 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDUFS6O753802MINT-64086
    RHOHQ156692MINT-64255
    KCNE1ENSP000003372553STRING (score=.999)
    KCNE2ENSP000002903103STRING (score=.998)
    KCNQ1ENSP000003701533STRING (score=.997)
    About this table

    5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000160 two-component signal transduction system (phosphorelay) IEA--
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0006811 ion transport IEA--
    GO:0006813 potassium ion transport TAS7736582
    GO:0006936 muscle contraction TAS7736582
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Sigma-Aldrich Small Molecules for KCNH2:
    Antagonist Inhibitor

    Compounds for KCNH2 available from Tocris Bioscience
    CompoundAction CAS number
    NS 1643hERG channel activator. Antiarrhythmic[448895-37-2]
    AniracetamDesensitization inhibitor (AMPA > kainate)[72432-10-1]
    SG 209K+ channel opener[83440-03-3]
    E-4031 dihydrochlorideHERG channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
    4-AminopyridineK+ channel blocker[504-24-5]
    About this table


    10/32 Novoseek chemical compound relationships for KCNH2 gene (see all 32 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 88.43 438 10028924 (5), 16495758 (4), 14517175 (4), 12208779 (4) (see all 99)
    methanesulfonanilide 87.29 4 15519905 (1), 8649354 (1), 11090546 (1)
    ly97241 79.85 5 9315735 (3), 12522086 (1)
    merg 74.89 2 10191308 (1), 15176421 (1)
    prucalopride 65.23 1 11714889 (1)
    i.c. 20 52.76 2 15716081 (1), 16614168 (1)
    sodium 47.13 36 8873679 (2), 10613047 (2), 8952843 (1), 9570196 (1) (see all 22)
    pip2 22.71 4 15231497 (2), 12645305 (1), 17622552 (1)
    katp 21.38 2 17027138 (1), 12490549 (1)
    calcium 15.21 11 10860024 (1), 9508824 (1), 18382206 (1), 14557918 (1) (see all 10)
    About this table

    5 PharmGKB drug compound relationships for KCNH2 gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    antiarrhythmicsCO  FA  GN  7736582 10219239 14525949 11997281
    clarithromycinFA  GN  10219239
    mexiletinePD  8521555
    quinidinePD  9950666
    sotalolFA  GN  14525949
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KCNH2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNH2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000238

                  Sigma-Aldrich siRNA and siRNA Panels for KCNH2  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNH2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000238  NM_172056  NM_172057  

    REFSEQ mRNAs for KCNH2 gene (3 alternative transcripts): 

    NM_000238.2   NM_172056.1   NM_172057.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000238  NM_172056  NM_172057  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000238
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000238
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_000238 

    Additional cDNA sequence: 

    AF052728.1 AF363636.1 AJ512214.1 AJ609614.1 AY927502.1 AY927580.1 BC001914.1 BC004311.2 
    BC127672.1 BC127673.1 BT007336.1 CR616390.1 DQ120124.1 DQ120125.1 DQ525913.1 

    11 DOTS entries:

    DT.91717981  DT.100712510  DT.92038159  DT.121064863  DT.100025537  DT.97845340  DT.91717968  DT.91717973 
    DT.121064861  DT.121064850  DT.97817104 

    24/157 AceView cDNA sequences (see all 157 ):

    AI560480 BT007336 NM_172057 BC001914 BE218498 BM756495 AJ609614 AA386088 
    CR616390 BM681195 BM739789 AA151411 BF983782 BQ638813 BQ424182 BQ068861 
    AI051655 BI823359 BQ890248 BE382709 BF115766 AI494574 AI220422 BM726538 

    highest scoring ESTs for KCNH2:

    AF052728 U04270 AA076910 AA151410 AA151411 AA203512 AA297037 AA340285 AA386088 AA427490 

    Unigene Cluster for KCNH2:

    Potassium voltage-gated channel, subfamily H (eag-related), member 2
    Hs.647099  [show with all ESTs]
    Unigene Representative Sequence: DQ525913


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000262186  ENST00000330883  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    KCNH2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for KCNH2

    1 / 2 / 3

    6 probe-sets matching KCNH2 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    38858_at2, 3 U95-A 1 1.00 1.00 0.98 1.11 U04270 0.80 1.00 0.91 1
    38225_at2, 3 U95-A 1 1.00 1.00 0.99 0.89 AF052728 0.80 1.00 0.91 1

    205262_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000238 0.60 1.00 0.82 1

    210036_s_at2, 3 U133-A 1 1.00 1.00 -- -- AB044806 0.60 1.00 0.82 1

    205262_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    210036_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  KCNH2 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TGGTTCATTC

    SOURCE GeneReport for Unigene cluster: Hs.647099

    Expression variation in blood from EXPOLDB for KCNH2

    UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809
    Tissue specificity: Highly expressed in heart and brain

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for KCNH2 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    KCNH21   -- potassium voltage-gated channel, subfamily H (eag-related), more 91.8(n)
    96.8(a)
    403761  NM_001003145.1  NP_001003145.1 
    chimpanzee
    (Pan troglodytes)
    KCNH21   -- potassium voltage-gated channel, subfamily H (eag-related), more 94.82(n)
    94.52(a)
    463894  XM_001137384.1  XP_001137384.1 
    cow
    (Bos taurus)
    KCNH21   -- potassium voltage-gated channel, subfamily H (eag-related), more 91.92(n)
    96.95(a)
    539971  XM_590603.3  XP_590603.3 
    rat
    (Rattus norvegicus)
    Kcnh21   -- potassium voltage-gated channel, subfamily H (eag-related), more 88.78(n)
    95.94(a)
    117018  NM_053949.1  NP_446401.1 
    mouse
    (Mus musculus)
    Kcnh21, 5 5 (12.00 cM)5
    potassium voltage-gated channel, subfamily H (eag-related), more1, 5 88.51(n)1
    96.11(a)1
    165111  NM_013569.11  NP_038597.11 
     AF0128685  AF0128695  (see all 12)
    About this table        Species with no ortholog for KCNH2

    ENSEMBL Gene Tree for KCNH2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for KCNH2 gene
    KCNH62  KCNH72  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/364 NCBI SNPs in KCNH2 are shown (see all 364 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 52)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 7 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs18051231,2
    C,F,H150276467(-) GGACAC/AGGGTG 2 T/K mis1 ese32Minor allele frequency- A:0.24WA 758
    --
    rs117718441,2
    C,F,H150306843(+) ATCTGG/AAGGCC 2 -- ng314Minor allele frequency- A:0.01EU EA WA 414
    --
    rs47253851,2
    A,C,F150285753(+) TCTGCT/CCCAGG 3 -- ng31 int14Minor allele frequency- C:0.48NS 376
    rs8821561,2
    A,C,F150284269(-) TGGCCG/ACCTAC 3 -- int1 ng3110Minor allele frequency- A:0.19MN EA NA NS 1828
    --
    rs69688211,2
    C,F150285145(+) TCCCCC/ACATCG 3 -- ng31 int1 trp31Minor allele frequency- A:0.05NS 94
    --
    rs78031841,2
    C,F150272902(+) TTCCTG/ATGCAG 2 -- ng514Minor allele frequency- A:0.09NS 376
    --
    rs29688591,2
    A,C150277755(-) CCTTTC/TTACCC 3 -- int1 ut31 ese3 trp30--------
    --
    rs413143601,2
    F150277203(+) CCCAAC/ACCACA 3 -- int1 ng511Minor allele frequency- A:0.03NS 94
    --
    rs413073101,2
    F150284291(+) GGGGTG/AAGGGG 3 -- ng31 int11Minor allele frequency- A:0.02NS 94
    --
    rs413090171,2
    F150306560(+) GGGACC/ACTTAG 2 -- ng312Minor allele frequency- A:0.03NS 188
    About this table

    HapMap Linkage Disequilibrium images for KCNH2 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 152427

    UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809

  • Defects in KCNH2 are the cause of long QT syndrome type 2 (LQT2) [MIM:152427]. 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. Deafness is often associated with LQT2
  • Defects in KCNH2 are the cause of short QT syndrome type 1 (SQT1) [MIM:609620]. Short QT
    syndromes are heart disorders characterized by idiopathic persistently and uniformly short QT
    interval on ECG in the absence of structural heart disease in affected individuals. They cause
    syncope and sudden death
  • 10/40 Novoseek disease relationships for KCNH2 gene (see all 40 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    long qt syndrome 96.82 153 18272172 (3), 11434015 (3), 11170080 (2), 11289718 (2) (see all 99)
    torsades de pointes 92.21 29 14975710 (2), 12904146 (1), 15519905 (1), 15671647 (1) (see all 26)
    romano-ward syndrome 85.82 2 18752142 (1), 10973849 (1)
    arrhythmia 84.74 87 7736582 (3), 19244476 (2), 15621040 (2), 16554806 (2) (see all 70)
    death sudden 82.38 21 14676148 (2), 11289718 (1), 11306689 (1), 16771953 (1) (see all 19)
    death sudden cardiac 76.55 15 16132053 (1), 8995352 (1), 15890322 (1), 18701618 (1) (see all 14)
    ventricular arrhythmia 74.90 8 15637086 (1), 18551196 (1), 12885765 (1), 18782006 (1) (see all 5)
    ventricular tachyarrhythmia 68.67 4 8914737 (1), 16226079 (1), 16942825 (1)
    tachycardia ventricular 63.97 8 12904146 (1), 15673388 (1), 15890322 (1), 18701618 (1) (see all 8)
    ventricular fibrillation 59.12 7 12904146 (1), 15673388 (1), 15640612 (1), 15890322 (1) (see all 7)
    About this table

    2 PharmGKB disease relationships for KCNH2 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Long QT SyndromeCO  PD  FA  GN  7736582 10219239 11997281 8521555
    Torsades de PointesCO  FA  GN  14525949 11997281
    About this table

    GeneTests: KCNH2
    Romano-Ward Syndrome

    Human Gene Mutation Database: KCNH2
    Genetic Association Database: KCNH2
    Human Genome Epidemiology Navigator: KCNH2 (51 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/569 PubMed articles for KCNH2 gene (see all 569 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      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, and/or H-InvDB)
    About This Section

    Entrez Gene: 3757 HGNC: 6251 AceView: KCNH2 Ensembl:ENSG00000055118 euGenes: HUgn3757
    ECgene: KCNH2 H-InvDB: KCNH2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    LQTSdbhttp://www.ssi.dk/graphics/html/lqtsdb/herg.htm
    GeneReviewshttp://www.genetests.org/query?gene=KCNH2
    Wikipedia http://en.wikipedia.org/wiki/Ether-a-go-go_potassium_channels
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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