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    KCNH2 potassium voltage-gated channel subfamily H member 2 [ Homo sapiens (human) ]

    Gene ID: 3757, updated on 9-Jun-2016
    Official Symbol
    KCNH2provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily H member 2provided by HGNC
    Primary source
    HGNC:HGNC:6251
    See related
    Ensembl:ENSG00000055118 HPRD:01069; MIM:152427; Vega:OTTHUMG00000158341
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ERG1; HERG; LQT2; SQT1; ERG-1; H-ERG; HERG1; Kv11.1
    Summary
    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]
    Orthologs
    Location:
    7q36.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (150944956..150978314, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150642044..150675402, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transmembrane protein 176B Neighboring gene transmembrane protein 176A Neighboring gene uncharacterized LOC105375567 Neighboring gene amine oxidase, copper containing 1 Neighboring gene uncharacterized LOC107986861 Neighboring gene nitric oxide synthase 3 Neighboring gene uncharacterized LOC105375568 Neighboring gene autophagy related 9B

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in KCNH2 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Long QT syndrome 2
    MedGen: C3150943 OMIM: 613688 GeneReviews: Long QT Syndrome
    Compare labs
    Short QT syndrome 1
    MedGen: C1865020 OMIM: 609620 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2016-01-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2016-01-14)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    NHGRI GWA Catalog
    Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
    NHGRI GWA Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    NHGRI GWA Catalog
    Genetic variation in SCN10A influences cardiac conduction.
    NHGRI GWA Catalog
    Impact of ancestry and common genetic variants on QT interval in African Americans.
    NHGRI GWA Catalog
    Several common variants modulate heart rate, PR interval and QRS duration.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat protein inhibits hERG K(+) currents through the inhibition of hERG protein expression PubMed

    Go to the HIV-1, Human Interaction Database

    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Phase 3 - rapid repolarisation, organism-specific biosystem (from REACTOME)
      Phase 3 - rapid repolarisation, organism-specific biosystemIn phase 3 (the "rapid repolarisation" phase), the L-type Ca2+ channels close, while the slow delayed rectifier (IKs) K+ channels remain open as more K+ leak channels open. This ensures a net outward...
    • Potassium Channels, organism-specific biosystem (from REACTOME)
      Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
    • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
      Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cardiac conduction TAS
    Traceable Author Statement
    more info
     
    cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to drug IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane depolarization during action potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane repolarization during action potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane repolarization during cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane repolarization during ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of potassium ion export IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphorelay signal transduction system IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    potassium ion export IDA
    Inferred from Direct Assay
    more info
    PubMed 
    potassium ion export across plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    potassium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of heart rate by hormone TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of membrane potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of membrane repolarization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of ventricular cardiac muscle cell membrane repolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    signal transduction by protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    voltage-gated potassium channel complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    potassium voltage-gated channel subfamily H member 2
    Names
    eag homolog
    eag-related protein 1
    ether-a-go-go-related gene potassium channel 1
    ether-a-go-go-related potassium channel protein
    ether-a-go-go-related protein 1
    potassium channel, voltage gated eag related subfamily H, member 2
    potassium voltage-gated channel, subfamily H (eag-related), member 2
    voltage-gated potassium channel subunit Kv11.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008916.1 RefSeqGene

      Range
      4613..37971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_288

    mRNA and Protein(s)

    1. NM_000238.3NP_000229.1  potassium voltage-gated channel subfamily H member 2 isoform a

      See identical proteins and their annotated locations for NP_000229.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF363636, BM674996, DQ525913, U04270
      Consensus CDS
      CCDS5910.1
      UniProtKB/Swiss-Prot
      Q12809
      UniProtKB/TrEMBL
      A0A090N8Q0, Q15BH2
      Related
      ENSP00000262186, OTTHUMP00000212821, ENST00000262186, OTTHUMT00000350741
      Conserved Domains (6) summary
      COG0664
      Location:736856
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:742853
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      cd00130
      Location:41132
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam00520
      Location:454659
      Ion_trans; Ion transport protein
      pfam07885
      Location:611660
      Ion_trans_2; Ion channel
      pfam13426
      Location:29130
      PAS_9; PAS domain
    2. NM_001204798.1NP_001191727.1  potassium voltage-gated channel subfamily H member 2 isoform d

      See identical proteins and their annotated locations for NP_001191727.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and 5' and 3' coding regions compared to variant 1, resulting in a shorter isoform (d) with different N- and C-termini compared to isoform a.
      Source sequence(s)
      AJ609614, BC001914, BG683210, BQ478289
      UniProtKB/Swiss-Prot
      Q12809
      Conserved Domains (3) summary
      cd00038
      Location:402462
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      pfam00520
      Location:114319
      Ion_trans; Ion transport protein
      pfam07885
      Location:271320
      Ion_trans_2; Ion channel
    3. NM_172056.2NP_742053.1  potassium voltage-gated channel subfamily H member 2 isoform b

      See identical proteins and their annotated locations for NP_742053.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as HERG-USO, differs in the 3' UTR and 3' coding region compared to variant 1, resulting in a shorter isoform (b) with a different C-terminus compared to isoform a.
      Source sequence(s)
      AB044806, BC001914, BQ478289, DQ525913
      UniProtKB/Swiss-Prot
      Q12809
      UniProtKB/TrEMBL
      A0A090N7W1, Q15BH2
      Related
      ENSP00000387657, ENST00000430723
      Conserved Domains (5) summary
      cd00038
      Location:742802
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      cd00130
      Location:41132
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam00520
      Location:454659
      Ion_trans; Ion transport protein
      pfam07885
      Location:611660
      Ion_trans_2; Ion channel
      pfam13426
      Location:29130
      PAS_9; PAS domain
    4. NM_172057.2NP_742054.1  potassium voltage-gated channel subfamily H member 2 isoform c

      See identical proteins and their annotated locations for NP_742054.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as HERG1b, differs in the 5' UTR and 5' coding region compared to variant 1, resulting in a shorter isoform (c) with a different N-terminus compared to isoform a.
      Source sequence(s)
      AJ512214, BG683210, BM674996, U04270
      Consensus CDS
      CCDS5911.1
      UniProtKB/Swiss-Prot
      Q12809
      UniProtKB/TrEMBL
      A0A090N7X5
      Related
      ENSP00000328531, OTTHUMP00000212824, ENST00000330883, OTTHUMT00000350744
      Conserved Domains (4) summary
      COG0664
      Location:396516
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:402513
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      pfam00520
      Location:114319
      Ion_trans; Ion transport protein
      pfam07885
      Location:271320
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      150944956..150978314 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012196.1XP_016867685.1  

    2. XM_011516185.2XP_011514487.1  

      Conserved Domains (4) summary
      COG0664
      Location:636756
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:642753
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      pfam00520
      Location:354559
      Ion_trans; Ion transport protein
      pfam07885
      Location:511560
      Ion_trans_2; Ion channel
    3. XM_017012195.1XP_016867684.1  

    4. XM_011516186.2XP_011514488.1  

      Conserved Domains (6) summary
      COG0664
      Location:736856
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:742853
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      cd00130
      Location:41132
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam00520
      Location:454659
      Ion_trans; Ion transport protein
      pfam07885
      Location:611660
      Ion_trans_2; Ion channel
      pfam13426
      Location:29130
      PAS_9; PAS domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      150650401..150683838 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)