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Description for Protein KCNH2

potassium voltage-gated channel, subfamily H (eag-related), member 2
10 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 2)
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] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • TM: Transmembrane domain
  • CNMP: Cyclic nucleotide-monophosphate binding domain
  • PAC: Motif C-terminal to PAS motifs (likely to contribute to PAS structural domain)
  • PAS: PAS domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04905
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Cause of Long QT Syndrome Type 2; Potassium channel HERG; Potassium channel HERG1; Voltage-gated potassium channel; Voltage-gated potassium channel, subfamily H, member 2; Eag homolog; Voltage-gated potassium channel, subfamily H, member 2 isoform b; Voltage-gated potassium channel, subfamily H, member 2 isoform c; Eag related protein 1; Ether-a-go-go related protein 1; ERG1; Potassium voltage-gated channel subfamily H member 2; Voltage-gated potassium channel subunit Kv11.1; Ether-a-go-go related gene potassium channel 1; H-ERG; Voltage-gated potassium channel, subfamily H, member 2 isoform a; HERG1; Ether-a-go-go-related potassium channel protein; Human eag-related gene; HERG; LQT2
    Approved Symbol:
    KCNH2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 13
    Human (de-) phosphorylation sites: 13; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Amiodarone(db);
  • Amsacrine(db);
  • Astemizole(db);
  • Carvedilol(db);
  • Cisapride(db);
  • Dofetilide(db);
  • Doxazosin(db);
  • Halofantrine(db);
  • Ibutilide(db);
  • Miconazole(db);
  • Pimozide(db);
  • Prazosin(db);
  • Propafenone(db);
  • Quinidine(db);
  • Sertindole(db);
  • Sotalol(db);
  • Terazosin(db);
  • Terfenadine(db);
  • Thioridazine(db);
  • Verapamil(db)

    Associated Genetic Diseases:

  • Long qt syndrome 1/2, digenic(Pd);
  • Long qt syndrome 2(Pd);
  • Long qt syndrome 2, acquired, susceptibility to(Pd);
  • Long qt syndrome 2/3, digenic(Pd);
  • Long qt syndrome, bradycardia-induced(Pd);
  • Short qt syndrome 1(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 5
  • Isoform 2 : 4
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 01069 Entrez Gene ID: 3757 OMIM ID: 152427 Swissprot Accession: Q12809;