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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
Corresponding disease
DFNA2 neurosensory deafness 2
Location 1p34      Physical location : 41.249.683 - 41.306.123
Synonym name potassium voltage-gated channel KQT-like protein 4
Synonym symbol(s) KV7.4
DNA
TYPE anonymous DNA segment
STRUCTURE 54.00 kb     14 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map pter - D1S201 - D1S255 - D1S2783 - D1S432 - D1S1591 - D1S2892 - D1S2657 - D1S2743 - MYCL1 - D1S1591 - D1S432 - D1S2101 - D1S1598 - D1S2484 - D1S2743 - D1S3435 - D1S2706 - KCNQ4 /DFNA2 - D1S2645 - D1S193 - D1S2861 - D1S2632 - D1S2722 - cen
Authors Kubisch (99),Coucke (99)
Physical map
HPCAL4 1p34.2 hippocalcin like 4 PPIE 1p32 peptidylprolyl isomerase E (cyclophilin E) BMP8B 1p35-p32 bone morphogenetic protein 8 b(osteogenic protein 2) OXCT2 1p34 3-oxoacid CoA transferase 2 IPT 1p35.3-p34.1 3-oxoacid CoA transferase 2 MYCL1 1p34.2 v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) FLJ14490 1p34.2 hypothetical protein FLJ14490 CAP1 1p34.2 CAP, adenylate cyclase-associated protein 1 (yeast) PPT1 1p32 palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile) RLF 1p32 rearranged L-myc fusion sequence LOC127391 1p34.2 similar to dJ39G22.2 (novel protein) ZMPSTE24 1p34.1-p33 zinc metalloproteinase (STE24 homolog, yeast) COL9A2 1p33-p32.3 collagen, type IX, alpha 2 LOC388621 1 similar to 60S ribosomal protein L21 LOC391028 1 similar to Csa-19 LOC64744 1p35.3-p34.1 hypothetical protein AL133206 LOC65243 1p34.2 hypothetical protein LOC65243 FLJ16030 1p34.2 FLJ16030 protein FLJ21144 1p34.2 hypothetical protein FLJ21144 MGC27466 1p34.2 hypothetical protein MGC27466 LOC391029 1 similar to General transcription factor IIF, polypeptide 2 RIMS3 1pter-p22.2 regulating synaptic membrane exocytosis 3 NFYC 1p32 nuclear transcription factor Y, gamma KCNQ4 1p34 potassium voltage-gated channel, KQT-like subfamily, member 4 CITED4 1p34.1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 LOC388622 1 LOC388622 CTPS 1p34.1 CTP synthase FLJ23878 1p34.1 hypothetical protein FLJ23878 SCMH1 1p34 sex comb on midleg homolog 1 (Drosophila) LOC388623 1 LOC388623 LOC391030 1 similar to forkhead box protein O6 EDN2 1p34.1 endothelin 2 HIVEP3 1p34 human immunodeficiency virus type I enhancer binding protein 3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 4116 - 695 - 2006 16917933
13 - 3954 - 641 - 2006 16917933
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea   Homo sapiens
 earinnervestibule  
Nervousbrain    
Reproductivefemale systembreastmammary gland  
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumhair cell receptor Homo sapiens
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
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