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FLASH GENE
Symbol KCNQ4 contributors: mct - updated : 22-08-2012
HGNC name potassium voltage-gated channel, KQT-like subfamily, member 4
HGNC id 6298
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six membrane spanning domains
  • an hydrophobic pore (P loop), flanked by TM domains 5 and 6, sensitive to changes in membrane potential
  • an internal PDZ (PSD-95) binding motif (KTXXXI) near the KCNQ4 C terminus
    • HOMOLOGY
    Homologene
    FAMILY potassium channel family, KQT subfamily
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text at the basal membrane of cochlear outer hair cells
    basic FUNCTION
  • probably important in the regulation of neuronal excitability
  • may underlie a potassium current involved in
    • regulating the excitability of sensory cells of the cochlea
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component heteromultimers with KCNQ3
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HSP90AA1 and HSP90B1 play key roles in controlling KCNQ4 homeostasis via the HSP40-HSP70-HOP-HSP90 chaperone pathway and the ubiquitin-proteasome pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA2
    related resource Hereditary Hearing Loss at GeneDis
    Susceptibility to age-related hearing impairment
    Variant & Polymorphism SNP increasing the risk of age-related hearing impairment, (SNP18) for the high frequencies and three SNPs (SNP9, SNP12, and SNP18) for the low frequencies
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS