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FLASH GENE
Symbol KCNH3 contributors: mct/npt/shn - updated : 09-12-2010
HGNC name potassium voltage-gated channel, subfamily H (eag-related), member 3
HGNC id 6252
DNA
TYPE functioning gene
STRUCTURE 19.14 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D12S1590 - D12S1627 - KCNH3 - D12S1620 - D12S1635 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 3853 117 1083 - -
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbraindiencephalonamygdala specific Homo sapiens
 brainforebraincerebral cortex specific Homo sapiens
 brainlimbic systemhippocampus highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatum  specific Homo sapiens
Nervouscentral  specific Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • PAS family, cytosolic N terminus domain, highly conserved, controlling desactivation by association with K+ channel
  • six membrane spanning domains
  • an hydrophobic pore
  • TM domains 5 and 6
  • arginine-rich fourth TM domain controling voltage dependent gating
  • cytosolic C terminus, sensitive to changes in membrane potential
  • C-terminal region containing a cyclic-nucleotide-binding homology domain (CNBHD) and C-linker that couples the CNBHD to the pore
  • HOMOLOGY
    interspecies ortholog to Kcnh3, Mus musculus
    ortholog to KCNH3, Pan troglodytes
    ortholog to Kcnh3, Rattus norvegicus
    Homologene
    FAMILY
  • potassium channel family
  • H (Eag) subfamily
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • may be involved in cellular excitability of restricted neurons in the human central nervous system
  • potassium voltage-gated channel
  • a potent regulator of excitability in hippocampal pyramidal neurons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Kcnh3-/- mice exhibit neuronal hyperexcitability including frequent interictal spiking, spontaneous seizures and increased sensitivity to the chemoconvulsant pentylenetetrazol