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KCNH2 Gene

protein-coding   GIFtS: 70
GCID: GC07M150642

Potassium Voltage-Gated Channel, Subfamily H (Eag-Related),...


(Previous symbol: LQT2)
  See KCNH2-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)
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Aliases
Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member
21 2
     H-ERG2 3
LQT21 2 5     hERG-12 3
HERG2 3 5     SQT12 5
Eag Homolog2 3     HERG12
Eag-Related Protein 12 3     Kv11.12
Ether-A-Go-Go-Related Gene Potassium Channel 12 3     Ether-A-Go-Go-Related Potassium Channel Protein2
Ether-A-Go-Go-Related Protein 12 3     Potassium Voltage-Gated Channel Subfamily H Member 22
Voltage-Gated Potassium Channel Subunit Kv11.12 3     ERG3
ERG-12 3     hERG13
ERG12 3     

External Ids:    HGNC: 62511   Entrez Gene: 37572   Ensembl: ENSG000000551187   OMIM: 1524275   UniProtKB: Q128093   

Export aliases for KCNH2 gene to outside databases

Previous GC identifers: GC07M148888 GC07M149956 GC07M150033 GC07M150079 GC07M150272 GC07M144454


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KCNH2 Gene:
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, Jul 2008)

GeneCards Summary for KCNH2 Gene:
KCNH2 (potassium voltage-gated channel, subfamily H (eag-related), member 2) is a protein-coding gene. Diseases associated with KCNH2 include long qt syndrome 2, and short qt syndrome 1. GO annotations related to this gene include protein homodimerization activity and ubiquitin protein ligase binding. An important paralog of this gene is KCNH6.

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). Isoforms USO have no channel activity by themself, but modulates channel
characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo
ubiquitin-dependent degradation

summary for KCNH2 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 KCNH2 (HERG) Gene

PharmGKB "VIP" summary for KCNH2


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNH2 gene promoter:
         PPAR-gamma1   AP-1   NRSF form 1   c-Jun   PPAR-gamma2   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): KCNH2 promoter sequence
   Search Chromatin IP Primers for KCNH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNH2


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

Entrez Gene cytogenetic band: 7q36.1   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)
KCNH2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M150642:  view genomic region     (about GC identifiers)

Start:
150,642,044 bp from pter      End:
150,675,403 bp from pter
Size:
33,360 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 149,971,333-150,004,698     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: 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. Interacts with CANX
Sequence caution: Sequence=CAA09232.1; Type=Erroneous gene model prediction;
Selected PDB 3D structures from and Proteopedia for KCNH2 (see all 8):
1BYW (3D)        1UJL (3D)        2L0W (3D)        2L1M (3D)        2L4R (3D)        2LE7 (3D)    
Secondary accessions: A5H1P7 C4PFH9 D3DX04 O75418 O75680 Q708S9 Q9BT72 Q9BUT7 Q9H3P0
Alternative splicing: 6 isoforms:  Q12809-1   Q12809-2   Q12809-4   Q12809-5   Q12809-6   Q12809-7   (Primate-specific. Lacks a domain that is crucial for slow channel deactivation)

Explore the universe of human proteins at neXtProt for KCNH2: NX_Q12809

Explore proteomics data for KCNH2 at MOPED

Post-translational modifications: 

  • Phosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction1
  • Ubiquitination2 at Lys389
  • Glycosylation2 at Asn598
  • Modification sites at PhosphoSitePlus

  • See KCNH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000229.1  NP_001191727.1  NP_742053.1  NP_742054.1  

    ENSEMBL proteins: 
     ENSP00000328531   ENSP00000262186   ENSP00000376695   ENSP00000387657  
    Reactome Protein details: Q12809

    KCNH2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for KCNH2
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    Novus Biologicals KCNH2 Proteins
    Novus Biologicals KCNH2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KCNH2

     
    Search eBioscience for Proteins for KCNH2 

    KCNH2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of KCNH2
    Browse R&D Systems for Antibodies
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    Novus Biologicals KCNH2 Antibody
    Abcam antibodies for KCNH2
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    ThermoFisher Antibody for KCNH2
    LSBio Antibodies in human, mouse, rat for KCNH2

    KCNH2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for KCNH2
    Cloud-Clone Corp. CLIAs for KCNH2
    Search eBioscience for ELISAs for KCNH2 


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kv11.1
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 9):
     IPR018490 cNMP-bd-like
     IPR005821 Ion_trans_dom
     IPR003967 K_chnl_volt-dep_ERG
     IPR000595 cNMP-bd_dom
     IPR001610 PAC

    Graphical View of Domain Structure for InterPro Entry Q12809

    ProtoNet protein and cluster: Q12809

    Selected Blocks protein domains (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) (TC 1.A.1.20) subfamily. Kv11.1/KCNH2 sub-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


    Find genes that share domains with KCNH2           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: 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). Isoforms USO have no channel activity by themself, but modulates channel
    characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo
    ubiquitin-dependent degradation

         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

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000155phosphorelay sensor kinase activity IEA--
    GO:0004871signal transducer activity ----
    GO:0005216ion channel activity ----
    GO:0005242inward rectifier potassium channel activity IDA7604285
    GO:0005249voltage-gated potassium channel activity IDA11953308
         
    Find genes that share ontologies with KCNH2           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kcnh2):
     cardiovascular system  craniofacial  embryogenesis  growth/size/body  homeostasis/metabolism 
     mortality/aging  muscle 

    Find genes that share phenotypes with KCNH2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Kcnh2tm1Hjd for KCNH2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNH2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KCNH2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCNH2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KCNH2

    miRNA
    Products:
        
    miRTarBase miRNAs that target KCNH2:
    hsa-mir-133a-3p (MIRT004831), hsa-mir-7-5p (MIRT025630), hsa-mir-335-5p (MIRT016707), hsa-mir-133b (MIRT004832)

    Block miRNA regulation of human, mouse, rat KCNH2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KCNH2 (see all 9):
    hsa-miR-365 hsa-miR-501-5p hsa-miR-362-5p hsa-miR-2278 hsa-miR-3121-3p hsa-miR-944 hsa-miR-3918 hsa-miR-3684
    SwitchGear 3'UTR luciferase reporter plasmidKCNH2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KCNH2
    Predesigned siRNA for gene silencing in human, mouse, rat KCNH2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KCNH2

    Clone
    Products:
         
    OriGene clones in human, mouse for KCNH2 (see all 18)
    OriGene ORF clones in mouse, rat for KCNH2
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    GenScript: all cDNA clones in your preferred vector (see all 4): KCNH2 (NM_000238)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KCNH2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCNH2
    Addgene plasmids for KCNH2 

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNH2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCNH2_HUMAN, Q12809: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    nucleus3
    endoplasmic reticulum2
    extracellular2
    cytoskeleton1
    cytosol1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IDA7604285
    GO:0009986cell surface IDA--

    Find genes that share ontologies with KCNH2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNH2 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.68
    3SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    4Potassium transporters inward current
    Potassium transporters inward current
    5Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway


    Find genes that share SuperPaths with KCNH2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNH2
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 BioSystems Pathway for KCNH2
        SIDS Susceptibility Pathways

    1 Reactome Pathway for KCNH2
        Voltage gated Potassium channels

    1 PharmGKB Pathway for KCNH2
        Antiarrhythmic Pathway, Pharmacodynamics

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNH2: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KCNH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KCNH2 (Q128091, 2, 3 ENSP000002621864) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RHOHQ156692, 3, ENSP000003712194MINT-64255 I2D: score=3 STRING: ENSP00000371219
    NDUFS6O753802, 3MINT-64086 I2D: score=5 
    PASKQ96RG22, 3, ENSP000002340404MINT-8145369 I2D: score=1 STRING: ENSP00000234040
    CDC73Q6P1J93, ENSP000003564054I2D: score=4 STRING: ENSP00000356405
    YWHAEP622583, ENSP000002643354I2D: score=3 STRING: ENSP00000264335
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000160phosphorelay signal transduction system ----
    GO:0003064regulation of heart rate by hormone TAS11953308
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006811ion transport ----
    GO:0007165signal transduction ----

    Find genes that share ontologies with KCNH2           About GenesLikeMe



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

    Compounds for KCNH2 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 KCNH2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    PotassiumK+ (see all 16)7440-09-7--
    VerapamilAkilen (see all 107)52-53-9--

    Selected DrugBank Compounds for KCNH2 (see all 21)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DofetilideDofetilida [INN-Spanish] (see all 2)115256-11-6targetinhibitor10648647 10712445 11752352 9486667 11698075 15548764 11723241 11166283
    IbutilideIbutilida [INN-Spanish] (see all 3)122647-32-9targetinhibitor15926871 16291873 15266014 11602820 16076272 17497253
    Quinidine-- 56-54-2targetinhibitor18582585 15673388 15821840 10028924 16041196 15125690
    VerapamilVerapamil [Usan:Ban:Inn] (see all 4)52-53-9targetinhibitor15814090 15135665 19125880 15892662 17588331 16507347
    Astemizole-- 68844-77-9targetinhibitor10422790 10376921 11575008 10444235 15272206
    Cisapride-- 81098-60-4targetinhibitor9374794 17408310 12209010 15967876 10510456
    Sotalol-- 3930-20-9targetinhibitor16686685 11090546 15673388 16076272 10931813
    AmiodaroneAmiodarona [INN-Spanish] (see all 5)1951-25-3targetinhibitor18505444 11752352 18604229 14754422
    PimozidePimozida [INN-Spanish] (see all 2)2062-78-4targetinhibitor11377395 10762666 11296551 11511086
    PropafenonePropafenona [INN-Spanish] (see all 2)54063-53-5targetinhibitor12618228 11752352 11330342

    7 IUPHAR Ligands for KCNH2 (Kv11.1)    About this table
    LigandTypeActionAffinityPubmed IDs
    BeKm-1
    Gating inhibitorNone915137031
    APETx-1
    Gating inhibitorNone7.417473056
    mallotoxin
    ActivatorNone6.516928897
    NS1643
    ActivatorNone516284303 16219910
    terfenadine
    InhibitorNone5--
    astemizole
    InhibitorNone5--
    E4031
    InhibitorNone5--

    Selected Novoseek inferred chemical compound relationships for KCNH2 gene (see all 108)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dofetilide 88.8 34 9486667 (3), 20172036 (3), 15821840 (2), 15522280 (2) (see all 21)
    potassium 88.7 475 10028924 (5), 16495758 (4), 14517175 (4), 12208779 (4) (see all 99)
    methanesulfonanilide 86.8 4 15519905 (1), 8649354 (1), 11090546 (1)
    ly97241 79.2 5 9315735 (3), 12522086 (1)
    cisapride 77.7 36 9395068 (5), 9374794 (5), 12209010 (4), 20172036 (2) (see all 17)
    terfenadine 77.2 22 8772706 (5), 20071423 (3), 9694927 (3), 10604956 (2) (see all 11)
    astemizole 74.4 7 10422790 (2), 18701618 (1), 12775586 (1), 9658196 (1) (see all 5)
    ibutilide 74.4 20 19204737 (5), 18057887 (3), 16076272 (1), 17497253 (1) (see all 6)
    merg 74.1 2 10191308 (1), 15176421 (1)
    quinidine 69.7 30 12695533 (3), 16041196 (3), 15821840 (2), 16960444 (2) (see all 14)

    3 PharmGKB related drug/compound annotations for KCNH2 gene    About this table
    Drug/compound PharmGKB Annotation
    amiodaroneCA  
    calcium channel blockersCA  
    nitrendipineCA  



    Find genes that share compounds with KCNH2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KCNH2 gene (4 alternative transcripts): 
    NM_000238.3  NM_001204798.1  NM_172056.2  NM_172057.2  

    Unigene Cluster for KCNH2:

    Potassium voltage-gated channel, subfamily H (eag-related), member 2
    Hs.647099  [show with all ESTs]
    Unigene Representative Sequence: DQ525913
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330883(uc003wib.3) ENST00000262186(uc003wic.3) ENST00000532957(uc003wie.3)
    ENST00000473610(uc003wid.3) ENST00000461280 ENST00000392968(uc011kux.2)
    ENST00000430723
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KCNH2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KCNH2 (see all 9):
    hsa-miR-365 hsa-miR-501-5p hsa-miR-362-5p hsa-miR-2278 hsa-miR-3121-3p hsa-miR-944 hsa-miR-3918 hsa-miR-3684
    SwitchGear 3'UTR luciferase reporter plasmidKCNH2 3' UTR sequence
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    Additional mRNA sequence: 

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

    11 DOTS entries:

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

    Selected AceView cDNA sequences (see all 157):

    AI051655 BQ478289 AI220422 NM_000238 BE218498 BQ637095 BI823359 BF115766 
    BQ068861 BQ424182 CR616390 NM_172057 BM683949 BM739789 BF983782 BM756495 
    BM681195 BC004311 AJ512214 BQ787600 NM_172056 BE382709 AJ609614 AI373908 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    KCNH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTTCATTC
    KCNH2 Expression
    About this image


    KCNH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Gonad
             XY Germ Cells Testis Cord
     
     Heart (Cardiovascular System)
    KCNH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNH2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647099

    UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809
    Tissue specificity: Highly expressed in heart and brain. Isoforms USO are frequently overexpressed in cancer cells

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNH2: 
              Neuronal Ion Channels in human mouse rat

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

    Orthologs for KCNH2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnh21 , 5 potassium voltage-gated channel, subfamily H (eag-related), more1, 5 88.63(n)1
    96.37(a)1
      5 (10.94 cM)5
    165111  NM_013569.21  NP_038597.21 
     243195895 
    chicken
    (Gallus gallus)
    Aves LOC1008581221 potassium voltage-gated channel subfamily H member more 78.37(n)
    80.94(a)
      100858122  XM_003640666.2  XP_003640714.2 
    lizard
    (Anolis carolinensis)
    Reptilia KCNH26
    potassium voltage-gated channel, subfamily H (eag-...
    70(a)
    1 ↔ 1
    GL343807.1(121439-201271)
    zebrafish
    (Danio rerio)
    Actinopterygii kcnh2a1 potassium voltage-gated channel, subfamily H (eag-related), more 64.16(n)
    66.12(a)
      563802  NM_001042722.1  NP_001036187.1 


    ENSEMBL Gene Tree for KCNH2 (if available)
    TreeFam Gene Tree for KCNH2 (if available)

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

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    Paralogs for KCNH2 gene
    KCNH62  KCNH32  KCNH52  HCN32  HCN42  KCNH42  HCN22  CNGA12  
    CNGA22  HCN12  KCNH72  CNGB12  CNGA42  CNGA32  CNGB32  KCNH82  
    KCNH12  
    7 SIMAP similar genes for KCNH2 using alignment to 11 protein entries:     KCNH2_HUMAN (see all proteins):
    KCNH7    KCNH6    KCNH5    KCNH8    HCN3    HCN1
    KCNH3

    Find genes that share paralogs with KCNH2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCNH2 (see all 1433)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289289041,2,,4
    CLong QT syndrome 2 (LQT2)4 pathogenic1154101062(-) CCAGAA/C/G/
            
    AGGCA
    16 K T R I mis10--------
    rs362104221,2,,4
    CLong QT syndrome 2 (LQT2)4 untested1154107956(-) CGGCCC/TGGGAG 4 R W mis17Minor allele frequency- T:0.00NA NS 1188
    VAR_0089364
    Long QT syndrome 2 (LQT2)4--see VAR_0089362 N S mis40--------
    VAR_0085784
    Long QT syndrome 2 (LQT2)4--see VAR_0085782 N D mis40--------
    VAR_0089264
    Long QT syndrome 2 (LQT2)4--see VAR_0089262 G S mis40--------
    VAR_0089254
    Long QT syndrome 2 (LQT2)4--see VAR_0089252 N D mis40--------
    VAR_0089144
    Long QT syndrome 2 (LQT2)4--see VAR_0089142 L R mis40--------
    VAR_0366754
    Long QT syndrome 2 (LQT2)4--see VAR_0366752 R Q mis40--------
    VAR_0143874
    Long QT syndrome 2 (LQT2)4--see VAR_0143872 N I mis40--------
    VAR_0089214
    Long QT syndrome 2 (LQT2)4--see VAR_0089212 Y H mis40--------

    HapMap Linkage Disequilibrium report for KCNH2 (150642044 - 150675403 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for KCNH2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv465213CNV Loss19166990
    nsv889470CNV Loss21882294
    dgv7544n71CNV Loss21882294
    nsv889465CNV Loss21882294
    dgv7543n71CNV Loss21882294
    nsv8231CNV Gain18304495
    nsv889469CNV Gain21882294
    dgv2156e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): KCNH2
    Locus Specific Mutation Databases (LSDB): KCNH2

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 152427   
    OMIM disorders: 613688  609620  
    UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809
  • Long QT syndrome 2 (LQT2) [MIM:613688]: A heart disorder characterized by a prolonged QT interval on the
    ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or
    emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often
    associated with long QT syndrome type 2. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Short QT syndrome 1 (SQT1) [MIM:609620]: A heart disorder characterized by idiopathic persistently and
    uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes
    syncope and sudden death. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for KCNH2:    
    About MalaCards
    long qt syndrome 2    short qt syndrome 1    melanomatosis    long qt syndrome 2, acquired
    fainting    long qt syndrome    long qt syndrome, acquired, reduced    supravalvular aortic stenosis
    short qt syndrome    atrioventricular block    short qt syndrome 2    syncope
    long qt syndrome 1    sudden infant death syndrome    familial atrial fibrillation

    10 diseases from the University of Copenhagen DISEASES database for KCNH2:
    Long QT syndrome     Encephalitis     Familial atrial fibrillation     Brugada syndrome
    Sudden infant death syndrome     Thymoma     Epilepsy syndrome     Melanomatosis
    Neuropathy     Myopathy

    Find genes that share disorders with KCNH2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for KCNH2 gene (see all 40)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    long qt syndrome 97 170 18272172 (3), 11434015 (3), 11170080 (2), 11289718 (2) (see all 99)
    torsades de pointes 92.6 34 14975710 (2), 12904146 (1), 15519905 (1), 15671647 (1) (see all 31)
    romano-ward syndrome 85.2 2 18752142 (1), 10973849 (1)
    arrhythmia 85.2 96 7736582 (3), 19244476 (2), 15621040 (2), 16554806 (2) (see all 79)
    death sudden 81.6 22 14676148 (2), 11289718 (1), 11306689 (1), 16771953 (1) (see all 20)
    death sudden cardiac 76.6 17 16132053 (1), 8995352 (1), 15890322 (1), 18701618 (1) (see all 16)
    ventricular arrhythmia 74.7 9 19726880 (1), 15637086 (1), 18551196 (1), 12885765 (1) (see all 6)
    ventricular tachyarrhythmia 68.1 4 8914737 (1), 16226079 (1), 16942825 (1)
    tachycardia ventricular 64.4 8 12904146 (1), 15673388 (1), 15890322 (1), 18701618 (1) (see all 8)
    ventricular fibrillation 57.4 7 12904146 (1), 15673388 (1), 15640612 (1), 15890322 (1) (see all 7)

    GeneTests: KCNH2
    GeneReviews: KCNH2
    Genetic Association Database (GAD): KCNH2
    Human Genome Epidemiology (HuGE) Navigator: KCNH2 (82 documents)

    Export disorders for KCNH2 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)
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    PubMed articles for KCNH2 gene, integrated from 10 sources (see all 904):
    (articles sorted by number of sources associating them with KCNH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Allelic variants in long-QT disease genes in patients with drug- associated torsades de pointes. (PubMed id 11997281)1, 2, 4, 9 Yang P.... Roden D.M. (Circulation 2002)
    2. A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia. (PubMed id 19412172)1, 2, 4 Huffaker S.J.... Weinberger D.R. (Nat. Medicines 2009)
    3. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. (PubMed id 15840476)1, 2, 4 Tester D.J.... Ackerman M.J. (Heart Rhythm 2005)
    4. Compound mutations: a common cause of severe long-QT syndrome. (PubMed id 15051636)1, 2, 4 Westenskow P....Sanguinetti M.C. (Circulation 2004)
    5. A family of potassium channel genes related to eag in Drosophila and mammals. (PubMed id 8159766)1, 2, 3 Warmke J.W. and Ganetzky B. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    6. Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. (PubMed id 18808722)1, 4, 9 Zhang X....Wang Q.K. (BMC Med. Genet. 2008)
    7. Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. (PubMed id 9600240)1, 2, 9 Itoh T.... Nakamura Y. (Hum. Genet. 1998)
    8. Two isoforms of the mouse ether-a-go-go-related gene coassemble to form channels with properties similar to the rapidly activating component of the cardiac delayed rectifier K+ current. (PubMed id 9351462)1, 2, 9 London B.... Robertson G.A. (Circ. Res. 1997)
    9. The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG). (PubMed id 18222980)1, 4, 9 Sinner M.F....KAoAob S. (Eur. Heart J. 2008)
    10. Position of aromatic residues in the S6 domain, not inactivation, dictates cisapride sensitivity of HERG and eag potassium channels. (PubMed id 12209010)1, 7, 9 Chen J....Sanguinetti M.C. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
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    Entrez Gene: 3757 HGNC: 6251 AceView: KCNH2 Ensembl:ENSG00000055118 euGenes: HUgn3757
    ECgene: KCNH2 H-InvDB: KCNH2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KCNH2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KCNH2[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Ether-a-go-go_potassium_channels

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNH2 gene:
    Search GeneIP for patents involving KCNH2

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



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