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FLASH GENE
Symbol KCNH5 contributors: mct/npt - updated : 05-03-2014
HGNC name potassium voltage-gated channel, subfamily H (eag-related), member 5
HGNC id 6254
Location 14q23.2      Physical location : 63.173.946 - 63.568.584
Synonym name
  • voltage-gated potassium channel EAG2
  • ether-a-go-go-related potassium channel 2
  • voltage-gated potassium channel subunit Kv10.2
    • Synonym symbol(s) EAG2, H-EAG2, Kv10.2
    DNA
    TYPE functioning gene
    STRUCTURE 338.67 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3968 112 988 - 2002 1194315
    10 - 3757 - 611 - 2002 1194315
    - - 2490 - 624 - 2002 1194315
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainlimbic systemhippocampus predominantly Rattus norvegicus
     nerve    
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • cytosolic N terminus domain, highly conserved, controlling desactivation by association with K+ channel
  • six membrane spanning domains with an hydrophobic pore flanked by TM domains 5 and 6
  • arginine-rich fourth TM domain controling voltage dependent gating
  • one cyclic nucleotide-binding domain
  • one PAS (PER-ARNT-SIM) dimerization domain
  • one PAS-associated C-terminal (PAC) domain
  • cytosolic C-terminal region containing a cyclic-nucleotide-binding homology domain (CNBHD) sensitive to changes in membrane potential and C-linker that couples the CNBHD to the pore
    • HOMOLOGY
    interspecies homolog to Heag1
    Homologene
    FAMILY
  • EAG/ELK/ERG potassium channel family
  • Drosophila ether-a-go-go (eag)-related subfamily H
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text
  • confined intracellularly during interphase but is enriched in the plasma membrane during late G2 phase and mitosis
    • basic FUNCTION
  • pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel
  • involved in regulation of transcription, DNA-dependent, signal transduction, ion transport
  • physiological role KCNH5 channels in the central nervous system
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • tubulin is a binding partner of KCNH5 (link for KCNH5 channel in tubulin-dependent physiological functions, such as cellular proliferation)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by hypermethylation in non-small cell lung cancer (NSCLC) more frequent in females compared to males
    Susceptibility to seizures within the first 6 months of life
    Variant & Polymorphism other variant in KCNH5 alters one of the highly conserved arginine residues of the voltage sensor of the encoded voltage-gated potassium channel
    Candidate gene detection of methylation of the gene in blood might have utility in monitoring and detecting tumor recurrence in early-stage non-small cell lung cancer after curative surgical resection
    Marker
    Therapy target
    ANIMAL & CELL MODELS