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FLASH GENE
Symbol KCNQ5 contributors: mct/npt/ - updated : 23-08-2017
HGNC name potassium voltage-gated channel, KQT-like subfamily, member 5
HGNC id 6299
Corresponding disease
MRD46 mental retardation, autosomal dominant 46
Location 6q13      Physical location : 73.331.570 - 73.908.571
Synonym name
  • KQT-like 5
  • potassium channel protein
  • potassium channel subunit alpha KvLQT5
  • potassium voltage-gated channel subfamily KQT member 5
  • voltage-gated potassium channel subunit Kv7.5
  • Synonym symbol(s) Kv7.5
    DNA
    TYPE functioning gene
    STRUCTURE 577.00 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D6S421 - D6S1681 - KCNQ5 - D6S1596 - D6S406 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 splicing 6625 - 942 - -
    11 splicing 6265 - 822 - -
    14 splicing 6595 - 932 - -
    13 splicing 6568 - 923 - -
    13 splicing 6652 - 951 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortex highly Homo sapiens
     braindiencephalonamygdala lowly Homo sapiens
     brainbasal nucleicaudate nucleus lowly Homo sapiens
     brainhindbrainmedulla oblongata lowly Homo sapiens
     brainforebraincerebral lobetemporalhighly Homo sapiens
     braindiencephalonhypothalamus moderately Homo sapiens
     brainbasal nucleiputamen moderately Homo sapiens
     brainforebraincerebral lobefrontalhighly Homo sapiens
     brainforebraincerebral lobeoccipitalhighly Homo sapiens
     brainlimbic systemhippocampus lowly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth  highly Homo sapiens
    Muscularstriatumskeletal highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    Nervouspyramidal cell Homo sapiens
    nervoussympathetic ganglia
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six putative membrane-spanning domains
  • a P-loop, and a carboxyl-terminal conserved cytoplasmic region (the "A-domain") which may be involved in subunit interactions
  • HOMOLOGY
    interspecies ortholog to Kcnq5, Mus musculus
    ortholog to KCNQ5, Pan troglodytes
    Homologene
    FAMILY
  • potassium channel gene family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • detected in the apical and lateral membrane (Moser 2008)
  • localizes to the postsynaptic site of inhibitory synapses on pyramidal cells and in interneurons
  • basic FUNCTION
  • regulation of neuronal excitability
  • involved in myoblast proliferation
  • potassium voltage-gated channel, playing a critical role in the regulation of neuronal excitability
  • member of axonal Kv7 channels that are critically and uniquely required for determining the inherent spontaneous firing of hippocampal CA1 pyramids, independently of alterations in synaptic activity
  • role of a number of KCNQ channel members in controlling basal anion secretion in the airway epithelium (Moser 2008)
  • is abundant in skeletal and smooth muscle and its association with KCNE peptides may fine-tune cellular responses
  • synaptic targeting of KCNQ5 in brainstem auditory neurons occurs around the time of hearing onset, regardless of auditory nerve activity
  • KCNQ5 channels control resting properties and release probability of a synapse
  • conduct M-type potassium currents in the brain, is expressed in skeletal muscle, and contribute to vascular muscle ton
  • role of KCNQ5 in dampening synaptic inhibition and shaping network synchronization in the hippocampus
  • controls excitability and function of hippocampal networks through modulation of synaptic inhibition
  • is an important channel for neuronal function
  • in neurons, is important for regulation of the M-type current, a slowly activating and deactivating neuronal potassium current that plays a crucial role in regulating neuronal excitability
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text potassium channel
    PATHWAY
    metabolism
    signaling signal transduction
    a component KCNQ1, KCNQ5 form heterotetrameric channels increasing the diversity of structures which fine-tune blood vessel reactivity
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • calmodulin, CaM (
  • potassium voltage-gated channel, KQT-like subfamily, member 3, KCNQ3 (
  • contributes to the spatial regulation of KCNE3, which can determin the physiological relevance of putative KCNE3 interactions in nerve and muscle
  • CTCF may be a master organizer in mediating the spatial organization of the KCNQ5 gene locus
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD46
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in congenital diaphragmatic hernia (CDH) lung
    Susceptibility
    Variant & Polymorphism
    Candidate gene possible target for the development of anticonvulsant drugs
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    respiratorylung 
    KCNQ5 channel activator drugs may be a potential therapeutic target for the treatment of Pulmonary hypertension (PH), a common complication of congenital diaphragmatic hernia (CDH)
    ANIMAL & CELL MODELS