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

KCNH2 Gene

protein-coding   GIFtS: 70
GCID: GC07M150642

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


(Previous symbol: LQT2)
  See related diseases
at  

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

Aliases
Potassium Voltage-Gated Channel, 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 long qt syndrome-2, acquired, and among its related super-pathways are Potassium Channels and Transmission across Chemical Synapses. GO annotations related to this gene include inward rectifier potassium channel activity and delayed rectifier potassium channel activity. 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). Isoform 3 has no channel activity by itself, but modulates channel
characteristics when associated with isoform 1

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KCNH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAC69709.1; Type=Miscellaneous discrepancy; Note=Cloning artifact; Sequence=AAH01914.2;
Type=Miscellaneous discrepancy; Note=Cloning artifact; Sequence=BAB19682.1; Type=Miscellaneous discrepancy;
Note=Cloning artifact; Sequence=CAA09232.1; Type=Erroneous gene model prediction;
6/8 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 D3DX04 O75418 O75680 Q9BT72 Q9BUT7 Q9H3P0
Alternative splicing: 3 isoforms:  Q12809-1   Q12809-2   Q12809-4   

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

Explore proteomics data for KCNH2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q12809

  • KCNH2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNH2 Protein Expression
    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
    Human Recombinant Protein Products for KCNH2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for KCNH2
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    OriGene Custom Protein Services for KCNH2
    GenScript Custom Purified and Recombinant Proteins Services for KCNH2
    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 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    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--

    KCNH2 for ontologies           About GeneDecksing



    KCNH2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of KCNH2
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    Cloud-Clone Corp. Antibodies for KCNH2 
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    LSBio Antibodies in human, mouse, rat for KCNH2 

    Assay Products for KCNH2: 
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    Cloud-Clone Corp. ELISAs for KCNH2 
    Cloud-Clone Corp. CLIAs for KCNH2


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

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

    5/9 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

    5/6 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


    KCNH2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (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
         
    KCNH2 for ontologies           About GeneDecksing


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

    KCNH2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnh2tm1Hjd for KCNH2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNH2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    miRTarBase miRNAs that target KCNH2:
    hsa-mir-133a (MIRT004831), hsa-mir-133b (MIRT004832)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KCNH2
    8/9 QIAGEN miScript miRNA 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:
        
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    Gene Editing
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    Clone
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    EMD Millipore Clones for the Expression of KCNH2
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    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
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                         Customized lentivirus expression plasmids for stable overexpression of KCNH2 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNH2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCNH2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters: outward current0.42
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.67
    3Potassium transporters: inward current
    Potassium transporters: inward current
    4Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway
    5Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for KCNH2
        Potassium transporters- inward current
    Potassium transporters- outward current

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

    1 BioSystems Pathway for KCNH2
        SIDS Susceptibility Pathways

    3        Reactome Pathways for KCNH2
        Potassium Channels
    Neuronal System
    Voltage gated Potassium channels

    1 PharmGKB Pathway for KCNH2
        Antiarrhythmic Pathway, Pharmacodynamics


    KCNH2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNH2

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

    5/67 Interacting proteins for KCNH2 (Q128092, 3 ENSP000002621864) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    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): 5/28 biological process terms (GO ID links to tree view) (see all 28):    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-dependent ----
    GO:0006811ion transport ----
    GO:0006813potassium ion transport ----

    KCNH2 for ontologies           About GeneDecksing



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

    KCNH2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    10/21 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--

    10/108 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  

    Search CenterWatch for drugs/clinical trials and news about KCNH2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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
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    8/9 QIAGEN miScript miRNA 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 

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

    AV708330 BQ638813 BM128762 CR616390 AA151411 BM752339 NM_000238 BQ478289 
    BE382709 BM709162 BM756495 AA386088 BM719472 AA427490 BI819784 BT007336 
    AI373908 BM739789 BF983782 BF115766 BM681195 AI051655 AA340285 BQ637095 

    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™, 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

    KCNH2 expression in normal human tissues (normalized intensities)      KCNH2 embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Fetal Liver CD36+ Cells   
             bone marrow mononuclear cells   
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Heart (Cardiovascular System)
             atrial myocardium   
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Gonad
             XY Germ Cells Testis Cord

    See KCNH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNH2

    SOURCE GeneReport for Unigene cluster: Hs.647099

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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KCNH2 gene from 6/13 species (see all 13)    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 78.63(n)
    80.65(a)
      100858122  XM_003640666.1  XP_003640714.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNH26
    Uncharacterized protein
    66(a)
    1 ↔ 1
    GL343807.1(121439-201271)
    zebrafish
    (Danio rerio)
    Actinopterygii kcnh2l1 potassium voltage-gated channel, subfamily H (eag-related), more 64.22(n)
    66.39(a)
      563802  NM_001042722.1  NP_001036187.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sei3 potassium ion transport voltage-gated
    potassium more
    68(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1036
    Protein UNC-103, isoform a
    47(a)
    1 → many
    III(4121464-4146447)


    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
    Paralogs for KCNH2 gene
    KCNH62  KCNH32  KCNH52  HCN32  HCN42  KCNH42  HCN22  CNGA22  
    CNGA12  HCN12  KCNH72  CNGB12  CNGA42  CNGA32  CNGB32  KCNH82  
    KCNH12  
    9 SIMAP similar genes for KCNH2 using alignment to 14 protein entries:     KCNH2_HUMAN (see all proteins):
    KCNH7    KCNH6    KCNH5    KCNH8    KCNH1    HCN3
    HCN1    KCNH3    KCNH4

    KCNH2 for paralogs           About GeneDecksing



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

    10/1433 SNPs in KCNH2 are shown (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
    ----------
    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--------
    VAR_0682664
    Long QT syndrome 2 (LQT2)4--see VAR_0682662 G S mis40--------
    VAR_0099124
    Long QT syndrome 2 (LQT2)4--see VAR_0099122 P S 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
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 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

  • 20/44 diseases for KCNH2 (see all 44):    About MalaCards
    long qt syndrome 2    long qt syndrome-2, acquired    short qt syndrome 1    melanomatosis
    long qt syndrome    short qt syndrome    familial long qt syndrome    jervell-lange nielsen syndrome
    supravalvular aortic stenosis    syncope    brugada syndrome    hypokalemia
    sudden infant death syndrome    familial atrial fibrillation    episodic ataxia    gastroparesis
    conduct disorder    fainting    williams syndrome    sinusitis

    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

    KCNH2 for disorders           About GeneDecksing

    10/40 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)
    About This Section

    PubMed articles for KCNH2 gene, integrated from 9 sources (see all 879):
    (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. (2002)
    2. 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. (2005)
    3. Compound mutations: a common cause of severe long-QT syndrome. (PubMed id 15051636)1, 2, 4 Westenskow P....Sanguinetti M.C. (2004)
    4. 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. (1994)
    5. 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. (2008)
    6. 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. (1998)
    7. 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. (1997)
    8. 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....Kaab S. (2008)
    9. 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. (2002)
    10. A K+ channel splice variant common in human heart lacks a C-terminal domain required for expression of rapidly activating delayed rectifier current. (PubMed id 9765245)1, 2, 9 Kupershmidt S.... Roden D.M. (1998)

    (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, Kegg, 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 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 KCNH2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNH2
    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.)
    About This Section
    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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    About This Section

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