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KCNQ4 Gene

protein-coding   GIFtS: 62
GCID: GC01P041249

Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member...


(Previous symbol: DFNA2)
  See KCNQ4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 41 2     Potassium Channel KQT-Like 42
DFNA21 2     Potassium Voltage-Gated Channel Subfamily KQT Member 42
Potassium Channel Subunit Alpha KvLQT42 3     KQT-Like 43
DFNA2A2 5     Voltage-Gated Potassium Channel Subunit Kv7.43
KV7.42     

External Ids:    HGNC: 62981   Entrez Gene: 91322   Ensembl: ENSG000001170137   OMIM: 6035375   UniProtKB: P566963   

Export aliases for KCNQ4 gene to outside databases

Previous GC identifers: GC01P041284 GC01P040253 GC01P040713 GC01P040662 GC01P040918 GC01P041022 GC01P039389


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KCNQ4 Gene:
The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the
regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this
channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel
anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a
heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a
cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing
loss. Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul
2008)

GeneCards Summary for KCNQ4 Gene:
KCNQ4 (potassium voltage-gated channel, KQT-like subfamily, member 4) is a protein-coding gene. Diseases associated with KCNQ4 include dfna2 nonsyndromic hearing loss, and deafness, autosomal dominant 2a. GO annotations related to this gene include delayed rectifier potassium channel activity and potassium channel activity. An important paralog of this gene is KCNQ1.

UniProtKB/Swiss-Prot: KCNQ4_HUMAN, P56696
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. KCNQ4 channels are blocked by linopirdin, XE991
and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly
suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors

Gene Wiki entry for KCNQ4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNQ4 gene promoter:
         E2F-4   E2F-3a   E2F-5   p53   E2F-2   Tal-1beta   E2F   E2F-1   GR-alpha   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNQ4 promoter sequence
   Search Chromatin IP Primers for KCNQ4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNQ4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34

KCNQ4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNQ4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P041249:  view genomic region     (about GC identifiers)

Start:
41,249,684 bp from pter      End:
41,306,124 bp from pter
Size:
56,441 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KCNQ4_HUMAN, P56696 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily KQT member 4  
Size: 695 amino acids; 77101 Da
Subunit: Homotetramer. May form heteromultimers with KCNQ3
Miscellaneous: Mutagenesis experiments were carried out by expressing in Xenopus oocytes KCNQ4 mutants either
individually (homomultimers) or in combination with wild-type KCNQ4 (mut/wt homomultimers) in a ratio of 1:1, to
mimic the situation in a heterozygous DFNA2 patient
2 PDB 3D structures from and Proteopedia for KCNQ4:
2OVC (3D)        4GOW (3D)    
Secondary accessions: O96025
Alternative splicing: 2 isoforms:  P56696-1   P56696-2   

Explore the universe of human proteins at neXtProt for KCNQ4: NX_P56696

Explore proteomics data for KCNQ4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCNQ4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004691.2  NP_751895.1  

    ENSEMBL proteins: 
     ENSP00000262916   ENSP00000423756   ENSP00000406735  
    Reactome Protein details: P56696

    KCNQ4 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KCN: Potassium channels
    Kv: Voltage-gated ion channels / Potassium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kv7.4
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 6):
     IPR005821 Ion_trans_dom
     IPR015573 K_chnl_volt-dep_KCQN4
     IPR003937 K_chnl_volt-dep_KCNQ
     IPR028325 VG_K_chnl
     IPR003091 K_chnl

    Graphical View of Domain Structure for InterPro Entry P56696

    ProtoNet protein and cluster: P56696

    1 Blocks protein domain: IPB013821 KCNQ voltage-gated potassium channel

    UniProtKB/Swiss-Prot: KCNQ4_HUMAN, P56696
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino
    acids at every third position (By similarity)
    Domain: The A-domain tail carries the major determinants of channel assembly specificity. Its coiled-coil region
    is Four-stranded
    Similarity: Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.4/KCNQ4 sub-subfamily


    Find genes that share domains with KCNQ4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNQ4_HUMAN, P56696
    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. KCNQ4 channels are blocked by linopirdin, XE991
    and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly
    suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors

         Genatlas biochemistry entry for KCNQ4:
    potassium voltage-gated channel,KQT subfamily,member 4,expressed in sensory outer hair cells

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity ----
    GO:0005251delayed rectifier potassium channel activity IBA--
    GO:0005267potassium channel activity TAS10025409
         
    Find genes that share ontologies with KCNQ4           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for KCNQ4:
     Synthetic lethal with paclitax  Upregulation of Wnt/beta-caten 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kcnq4):
     hearing/vestibular/ear  nervous system 

    Find genes that share phenotypes with KCNQ4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Kcnq4tm1.1Tjj for KCNQ4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNQ4
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    SwitchGear 3'UTR luciferase reporter plasmidKCNQ4 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCNQ4_HUMAN, P56696: Basal cell membrane; Multi-pass membrane protein. Note=Situated at the basal membrane of
    cochlear outer hair cells (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IEA--
    GO:0009925basal plasma membrane IEA--
    GO:0016020membrane ----

    Find genes that share ontologies with KCNQ4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNQ4 About    
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.68
    3Circadian entrainment
    Cholinergic synapse0.37
    4Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway
    5Celecoxib Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics


    Find genes that share SuperPaths with KCNQ4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNQ4
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 Reactome Pathway for KCNQ4
        Voltage gated Potassium channels

    1 PharmGKB Pathway for KCNQ4
        Celecoxib Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for KCNQ4):
        Cholinergic synapse

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCNQ4
    Interactions:

        GeneGlobe Interaction Network for KCNQ4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KCNQ4 (P566963 ENSP000002629164) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNQ3O435253, ENSP000003736484I2D: score=1 STRING: ENSP00000373648
    KCNA10ENSP000003587864STRING: ENSP00000358786
    KCNA2ENSP000003145204STRING: ENSP00000314520
    KCNA3ENSP000003587844STRING: ENSP00000358784
    KCNA4ENSP000003285114STRING: ENSP00000328511
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006813potassium ion transport TAS10025409
    GO:0007268synaptic transmission TAS--
    GO:0007605sensory perception of sound IEA--
    GO:0042472inner ear morphogenesis IEA--

    Find genes that share ontologies with KCNQ4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KCNQ4

    1 HMDB Compound for KCNQ4    About this table
    CompoundSynonyms CAS #PubMed Ids
    PotassiumK+ (see all 16)7440-09-7--

    1 DrugBank Compound for KCNQ4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Ezogabine D-23129 (see all 5)150812-12-7target--16713428 11378159 17184917

    9 IUPHAR Ligands for KCNQ4 (Kv7.4)    About this table
    LigandTypeActionAffinityPubmed IDs
    XE991
    Pore BlockerNone5.211245603
    retigabine
    ActivatorNone5.211466425
    zinc pyrithione
    ActivatorNone517435769
    BMS204352
    ActivatorNone511245603
    bepridil
    Pore BlockerNone511245603
    linopirdine
    Pore BlockerNone4.811245603
    PIP2
    ActivatorNone3.716251430
    tetraethylammonium
    Pore BlockerNone1.26 - 1.3118786918
    N-(S)-MPEPAamide
    ActivatorNone1.26 - 1.3116904708

    3 Novoseek inferred chemical compound relationships for KCNQ4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    linopirdine 88.7 4 16876114 (2), 15660259 (1), 19701239 (1)
    potassium 67.5 12 10025409 (2), 17568767 (1), 18300702 (1), 10646604 (1) (see all 11)
    calcium 0 3 16876114 (2)



    Find genes that share compounds with KCNQ4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KCNQ4 gene (2 alternative transcripts): 
    NM_004700.3  NM_172163.2  

    Unigene Cluster for KCNQ4:

    Potassium voltage-gated channel, KQT-like subfamily, member 4
    Hs.473058  [show with all ESTs]
    Unigene Representative Sequence: NM_004700
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000347132(uc001cgh.2 uc001cgi.2) ENST00000509682 ENST00000443478
    ENST00000506017
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    Additional mRNA sequence: 

    AF105202.1 AK074957.1 

    3 DOTS entries:

    DT.40301648  DT.92046826  DT.99997524 

    4 AceView cDNA sequences:

    AF105202 NM_004700 NM_172163 AK074957 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KCNQ4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCNQ4 Expression
    About this image

    KCNQ4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNQ4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.473058

    UniProtKB/Swiss-Prot: KCNQ4_HUMAN, P56696
    Tissue specificity: Expressed in the outer, but not the inner, sensory hair cells of the cochlea. Slightly
    expressed in heart, brain and skeletal muscle

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KCNQ4 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnq41 , 5 potassium voltage-gated channel, subfamily Q, member more1, 5 91.27(n)1
    96.83(a)1
      4 (56.52 cM)5
    606131  NM_001081142.11  NP_001074611.11 
     1206961385 
    chicken
    (Gallus gallus)
    Aves KCNQ41 potassium voltage-gated channel, KQT-like subfamily, more 78.82(n)
    79.24(a)
      419643  XM_417791.4  XP_417791.4 
    lizard
    (Anolis carolinensis)
    Reptilia KCNQ46
    potassium voltage-gated channel, KQT-like subfamil...
    81(a)
    1 ↔ 1
    GL343308.1(325946-363536)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kcnq41 potassium voltage-gated channel, KQT-like subfamily, more 69.51(n)
    75.9(a)
      780386  NM_001079456.2  NP_001072924.2 
    zebrafish
    (Danio rerio)
    Actinopterygii KCNQ46
    potassium voltage-gated channel, KQT-like subfamil...
    68(a)
    1 ↔ 1
    Zv9_NA546(9520-23017) ENSDARG00000089559
    worm
    (Caenorhabditis elegans)
    Secernentea kqt-13 voltage-gated potassium channel 42(a)   X(6655345-6662969)   --


    ENSEMBL Gene Tree for KCNQ4 (if available)
    TreeFam Gene Tree for KCNQ4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for KCNQ4 gene
    KCNQ12  KCNQ32  KCNQ22  KCNQ52  
    4 SIMAP similar genes for KCNQ4 using alignment to 2 protein entries:     KCNQ4_HUMAN (see all proteins):
    KCNQ5    KCNQ2    KCNQ3    KCNQ1

    Find genes that share paralogs with KCNQ4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCNQ4 (see all 1631)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289375881,2,,4
    CDeafness, autosomal dominant, 2A (DFNA2A)4 pathogenic141363640(+) CCATCA/G/TGCTAT 9 S G C mis10--------
    rs289397101,2,,4
    CDeafness, autosomal dominant, 2A (DFNA2A)4 pathogenic141363927(+) GCTCCA/GGCTTT 6 S G mis1 ese30--------
    VAR_0109364
    Deafness, autosomal dominant, 2A (DFNA2A)4--see VAR_0109362 L H mis40--------
    VAR_0109374
    Deafness, autosomal dominant, 2A (DFNA2A)4--see VAR_0109372 L S mis40--------
    VAR_0087264
    Deafness, autosomal dominant, 2A (DFNA2A)4--see VAR_0087262 W S mis40--------
    VAR_0087274
    Deafness, autosomal dominant, 2A (DFNA2A)4--see VAR_0087272 G C mis40--------
    VAR_0657794
    Deafness, autosomal dominant, 2A (DFNA2A)4--see VAR_0657792 G R mis40--------
    rs803582731,2
    Cpathogenic141362328(+) GTGTTC/GGTGGC 6 F L mis10--------
    rs803582761,2
    Cpathogenic141363206(+) CTCGCA/TCTGGT 6 H L mis10--------
    rs803582771,2
    Cpathogenic141363212(+) CTGGTC/GGGGGA 6 S W mis10--------

    HapMap Linkage Disequilibrium report for KCNQ4 (41249684 - 41306124 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for KCNQ4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747408CNV Deletion23290073
    esv2747419CNV Deletion23290073
    nsv610CNV Insertion18451855
    nsv870531CNV Loss21882294

    Human Gene Mutation Database (HGMD): KCNQ4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNQ4
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNQ4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603537   
    OMIM disorders: 600101  
    UniProtKB/Swiss-Prot: KCNQ4_HUMAN, P56696
  • Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for KCNQ4:    
    About MalaCards
    dfna2 nonsyndromic hearing loss    deafness, autosomal dominant 2a    deafness, autosomal dominant 4b

    2 diseases from the University of Copenhagen DISEASES database for KCNQ4:
    Sensorineural hearing loss     Nonsyndromic deafness

    Find genes that share disorders with KCNQ4           About GenesLikeMe

    2 Novoseek inferred disease relationships for KCNQ4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hearing loss high-frequency 87.7 2 16207888 (2)
    epilepsy 22.1 1 18061539 (1)

    GeneTests: KCNQ4
    GeneReviews: KCNQ4
    Genetic Association Database (GAD): KCNQ4
    Human Genome Epidemiology (HuGE) Navigator: KCNQ4 (6 documents)

    Export disorders for KCNQ4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KCNQ4 gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with KCNQ4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. (PubMed id 10025409)1, 2, 3, 9 Kubisch C.... Jentsch T.J. (Cell 1999)
    2. Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. (PubMed id 17033161)1, 4, 9 Su C.C....Li S.Y. (amp 2007)
    3. Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. (PubMed id 10925378)1, 2, 9 Van Hauwe P....Van Camp G. (Am. J. Med. Genet. 2000)
    4. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. (PubMed id 10369879)1, 2, 9 Coucke P.J....Van Camp G. (Hum. Mol. Genet. 1999)
    5. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. (PubMed id 10571947)1, 2, 9 Talebizadeh Z.... Smith S.D. (Hum. Mutat. 1999)
    6. Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene. (PubMed id 21242547)1, 2 Arnett J....Lesperance M.M. (Arch. Otolaryngol. Head Neck Surg. 2011)
    7. Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss. (PubMed id 19523148)1, 4 Pawelczyk M....Sliwinska-Kowalska M. (Ann. Hum. Genet. 2009)
    8. Structural insight into KCNQ (Kv7) channel assembly and channelopathy. (PubMed id 17329207)1, 2 Howard R.J.... Minor D.L. Jr. (Neuron 2007)
    9. KCNQ4: a gene for age-related hearing impairment? (PubMed id 16917933)1, 4 Van Eyken E....Van Camp G. (Hum. Mutat. 2006)
    10. The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. (PubMed id 16823764)1, 4 Van Laer L.... Van Camp G. (Hum. Mutat. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9132 HGNC: 6298 AceView: KCNQ4 Ensembl:ENSG00000117013 euGenes: HUgn9132
    ECgene: KCNQ4 Kegg: 9132 H-InvDB: KCNQ4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KCNQ4 Pharmacogenomics, SNPs, Pathways
    Hereditary hearing loss homepagehttp://webhost.ua.ac.be/hhh/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KCNQ4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNQ4 gene:
    Search GeneIP for patents involving KCNQ4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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