title: The human gene coding for HCN2, a pacemaker channel of the heart.
abstract: Hyperpolarization-activated, cyclic nucleotide-gated (HCN) channels, underlying 'pacemaker' currents (I(f)/Ih), are involved in pacemaker activity of cardiac sinoatrial node myocytes and central neurons. Several cDNAs deriving from four different genes were recently identified which code for channels characterized by six transmembrane domains and a cyclic nucleotide binding domain. We report here the identification of the human HCN2 gene and show that its functional expression in a human kidney cell line generates a current with properties similar to the native pacemaker f-channel of the heart. The hHCN2 gene maps to the telomeric region of chromosome 19, band p13.3. This is the first identification of a genetic locus coding for an HCN channel.
authors.affiliation: Istituto di Genetica, Bari, Italy.
authors.forename: T
authors.initials: T
authors.lastname: Vaccari
authors.forename: A
authors.initials: A
authors.lastname: Moroni
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: L
authors.initials: L
authors.lastname: Gorza
authors.forename: M E
authors.initials: ME
authors.lastname: Bianchi
authors.forename: M
authors.initials: M
authors.lastname: Beltrame
authors.forename: D
authors.initials: D
authors.lastname: DiFrancesco
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002460:Cell Line; D002888:Chromosomes, Human, Pair 19; D018076:DNA, Complementary / Q000737:chemistry; D006321:Heart / Q000502:physiology*; D006339:Heart Rate / Q000235:genetics*; D006801:Humans; D064428:Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels; D017404:In Situ Hybridization, Fluorescence; D007473:Ion Channels / Q000235:genetics*; D007668:Kidney / Q000378:metabolism; D008969:Molecular Sequence Data; D009124:Muscle Proteins; D015221:Potassium Channels; D016415:Sequence Alignment
chemical_list: D018076:DNA, Complementary; C578710:HCN2 protein, human; D064428:Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels; D007473:Ion Channels; D009124:Muscle Proteins; D015221:Potassium Channels