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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
Location 12q13.12      Physical location : 49.932.939 - 49.952.077
Synonym name
  • ELK channel 2
  • brain-specific eag-like channel 1
  • ether-a-go-go K(+) channel family member
  • ether-a-go-go-like potassium channel 2
  • potassium voltage-gated channel subfamily H member 3
  • voltage-gated potassium channel subunit Kv12.2
  • Synonym symbol(s) KIAA1282, BEC1, Kv12.2, ELK2
    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
    Physical map
    WNT1 12q13 wingless-type MMTV integration site family, member 1 DDN 12q13.12 dendrin PRKAG1 12q12-q14 protein kinase, AMP-activated, gamma 1 non-catalytic subunit MLL2 12q12-q13 myeloid/lymphoid or mixed-lineage leukemia 2 RHEBL1 12q13.12 Ras homolog enriched in brain like 1 DHH 12q12-q13.1 desert hedgehog homolog (Drosophila) LIMR 12q13.12 lipocalin-interacting membrane receptor K-ALPHA-1 12q12-q14.3 lipocalin-interacting membrane receptor TUBA3 12q12-12q14.3 lipocalin-interacting membrane receptor TUBA6 12q12-q14 tubulin alpha 6 PRPH 12q12-q13 peripherin TROAP 12p11.1 trophinin associated protein (tastin) LOC338761 12q13.12 similar to C1q-related factor precursor FLJ13236 12q13.12 hypothetical protein FLJ13236 SPATS2 12q13.12 spermatogenesis associated, serine-rich 2 KCNH3 12q13 potassium voltage-gated channel, subfamily H (eag-related), member 3 MCRS1 12q13.1 microspherule protein 1 DKFZP434J0113 12q13.12 hypothetical protein DKFZp434J0113 HYPC 12q hypothetical protein DKFZp434J0113 FMNL3 12q13.12 formin-like 3 TEGT 12q12-q13 testis enhanced gene transcript (BAX inhibitor 1) KIAA1602 12q13.12 KIAA1602 protein LOC144233 12q13.12 hypothetical protein LOC144233 FAIM2 12q13 Fas apoptotic inhibitory molecule 2 AQP2 12q13.1 aquaporin 2 (collecting duct) AQP5 12q13 aquaporin 5 AQP6 12q13 aquaporin 6, kidney specific RACGAP1 12p11.1 Rac GTPase activating protein 1 ACCN2 12q12 amiloride-sensitive cation channel 2, neuronal
    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