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KCNQ3 Gene

protein-coding   GIFtS: 67
GCID: GC08M133210

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


(Previous symbol: EBN2)
  See 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 31 2     KV7.32
EBN21 2 5     Potassium Channel, Voltage-Gated, Subfamily Q, Member 32
Potassium Channel Subunit Alpha KvLQT32 3     Potassium Voltage-Gated Channel Subfamily KQT Member 32
Voltage-Gated Potassium Channel Subunit Kv7.32 3     KQT-Like 33
BFNC22 5     

External Ids:    HGNC: 62971   Entrez Gene: 37862   Ensembl: ENSG000001841567   OMIM: 6022325   UniProtKB: O435253   

Export aliases for KCNQ3 gene to outside databases

Previous GC identifers: GC08M131852 GC08M133173 GC08M132813 GC08M133097 GC08M128458


(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 KCNQ3 Gene:
The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the
regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this
gene and one of two related proteins encoded by the KCNQ2 and KCNQ5 genes, both integral membrane proteins. M
channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel
anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2),
also known as epilepsy, benign neonatal type 2 (EBN2). Two variants encoding distinct isoforms have been found.
(provided by RefSeq, Mar 2011)

GeneCards Summary for KCNQ3 Gene:
KCNQ3 (potassium voltage-gated channel, KQT-like subfamily, member 3) is a protein-coding gene. Diseases associated with KCNQ3 include seizures, benign neonatal, type 2, and kcnq3-related benign familial neonatal epilepsy. GO annotations related to this gene include voltage-gated potassium channel activity and potassium channel activity. An important paralog of this gene is KCNQ1.

UniProtKB/Swiss-Prot: KCNQ3_HUMAN, O43525
Function: Probably important in the regulation of neuronal excitability. Associates with KCNQ2 or KCNQ5 to form a
potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly
activating and deactivating potassium conductance which plays a critical role in determining the subthreshold
electrical excitability of neurons as well as the responsiveness to synaptic inputs

summary for KCNQ3 Gene:
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the
Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNQ3 (KvLQT3) 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:
NC_000008.11  NT_008046.17  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNQ3 gene promoter:
         HFH-3   Pax-5   Egr-1   Lmo2   MIF-1   Cdc5   C/EBPalpha   Egr-4   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNQ3 promoter sequence
   Search Chromatin IP Primers for KCNQ3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNQ3


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

Entrez Gene cytogenetic band: 8q24   Ensembl cytogenetic band:  8q24.22   HGNC cytogenetic band: 8q24

KCNQ3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNQ3 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M133210:  view genomic region     (about GC identifiers)

Start:
133,133,105 bp from pter      End:
133,493,200 bp from pter
Size:
360,096 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: KCNQ3_HUMAN, O43525 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily KQT member 3  
Size: 872 amino acids; 96742 Da
Subunit: Heteromultimer with KCNQ2 or KCNQ5. May associate with KCNE2
Miscellaneous: Mutagenesis experiments were carried out in Xenopus oocytes by coexpression of either KCNQ3(mut)
and KCNQ2 at the ratio of 1:1, or of KCNQ3(mut), KCNQ3(wt) and KCNQ2 at the ratio of 1:1:2, to mimic the
situation in a heterozygous patient with BFNC2 disease
Secondary accessions: B4DJY4 E7EQ89
Alternative splicing: 2 isoforms:  O43525-1   O43525-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KCNQ3: NX_O43525

Explore proteomics data for KCNQ3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCNQ3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001191753.1  NP_004510.1  

    ENSEMBL proteins: 
     ENSP00000373648   ENSP00000429799   ENSP00000428790  
    Reactome Protein details: O43525

    KCNQ3 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: Kv7.3
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 7):
     IPR003948 K_chnl_volt-dep_KCNQ3
     IPR020969 Ankyrin-G_BS
     IPR005821 Ion_trans_dom
     IPR003937 K_chnl_volt-dep_KCNQ
     IPR028325 VG_K_chnl

    Graphical View of Domain Structure for InterPro Entry O43525

    ProtoNet protein and cluster: O43525

    2 Blocks protein domains:
    IPB003948 KCNQ3 voltage-gated potassium channel signature
    IPB013821 KCNQ voltage-gated potassium channel


    UniProtKB/Swiss-Prot: KCNQ3_HUMAN, O43525
    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)
    Similarity: Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.3/KCNQ3 sub-subfamily


    KCNQ3 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNQ3_HUMAN, O43525
    Function: Probably important in the regulation of neuronal excitability. Associates with KCNQ2 or KCNQ5 to form a
    potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly
    activating and deactivating potassium conductance which plays a critical role in determining the subthreshold
    electrical excitability of neurons as well as the responsiveness to synaptic inputs

         Genatlas biochemistry entry for KCNQ3:
    potassium voltage-gated channel,KQT subfamily,member 3,coassembling with KCNQ2 to contribute M-channel,localized
    in central nervous system (hyppocampus,neocortex and cerebellar cortex)

         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 TAS9677360
    GO:0005251delayed rectifier potassium channel activity IBA--
    GO:0005267potassium channel activity TAS9836639
         
    KCNQ3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNQ3:
     Upregulation of Wnt/beta-caten 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kcnq3):
     behavior/neurological  cellular  growth/size/body  homeostasis/metabolism  mortality/aging 
     nervous system 

    KCNQ3 for phenotypes           About GeneDecksing

    Animal Models:
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    miRNA
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    hsa-miR-124* hsa-miR-579 hsa-miR-323-3p hsa-miR-607 hsa-miR-300 hsa-miR-219-5p hsa-miR-138-2* hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidKCNQ3 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
    KCNQ3_HUMAN, O43525: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    nucleus3
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IEA--
    GO:0016020membrane ----
    GO:0033268node of Ranvier ISS16525039
    GO:0043194axon initial segment ISS16525039

    KCNQ3 for ontologies           About GeneDecksing


    (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 KCNQ3 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    Voltage gated Potassium channels0.43
    2L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    3Transmission across Chemical Synapses
    Neuronal System0.68
    4Circadian entrainment
    Cholinergic synapse0.37
    5Synaptic transmission ion currents
    Synaptic transmission ion currents

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNQ3
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    2 Reactome Pathways for KCNQ3
        Interaction between L1 and Ankyrins
    Voltage gated Potassium channels

    1 PharmGKB Pathway for KCNQ3
        Celecoxib Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for KCNQ3):
        Cholinergic synapse


    KCNQ3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNQ3: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KCNQ3

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

    Selected Interacting proteins for KCNQ3 (O435253 ENSP000003736484) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=6 STRING: ENSP00000349467
    CALM2P621583I2D: score=6 
    CALM3P621583I2D: score=6 
    KCNQ4P566963, ENSP000002629164I2D: score=1 STRING: ENSP00000262916
    KCNQ2O435263, ENSP000003520354I2D: score=2 STRING: ENSP00000352035
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006813potassium ion transport TAS9677360
    GO:0007268synaptic transmission TAS--
    GO:0007411axon guidance TAS--
    GO:0055085transmembrane transport ----

    KCNQ3 for ontologies           About GeneDecksing



    (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 

    Compounds for KCNQ3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
    XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
    JNJ 303Potent and selective IKs blocker[878489-28-2]
    E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
    ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]

    1 HMDB Compound for KCNQ3    About this table
    CompoundSynonyms CAS #PubMed Ids
    PotassiumK+ (see all 16)7440-09-7--

    3 DrugBank Compounds for KCNQ3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Ezogabine D-23129 (see all 5)150812-12-7target--17456683 17184917 10908292 10953053
    DiclofenacDiclofenac Acid (see all 4)15307-86-5targetother15598972 18206251
    Meclofenamic acidAcide meclofenamique [INN-French] (see all 6)644-62-2targetother15598972

    4 IUPHAR Ligands for KCNQ3 (Kv7.3)    About this table
    LigandTypeActionAffinityPubmed IDs
    retigabine
    ActivatorNone6.211466425
    PIP2
    ActivatorNone5.616251430
    tetraethylammonium
    Pore BlockerNone1.510711337
    linopirdine
    InhibitorNone1.5--

    4 Novoseek inferred chemical compound relationships for KCNQ3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 74.5 31 19167866 (2), 10446744 (1), 10996506 (1), 11579434 (1) (see all 24)
    tetraethylammonium 29.1 1 10684873 (1)
    sodium 18.9 2 19464834 (1), 16038283 (1)
    acetylcholine 0 1 17008177 (1)



    KCNQ3 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KCNQ3 gene (2 alternative transcripts): 
    NM_001204824.1  NM_004519.3  

    Unigene Cluster for KCNQ3:

    Potassium voltage-gated channel, KQT-like subfamily, member 3
    Hs.374023  [show with all ESTs]
    Unigene Representative Sequence: NM_004519
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000388996(uc003yti.3 uc003ytj.3 uc010mdt.3) ENST00000521134
    ENST00000519445 ENST00000519589
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    hsa-miR-124* hsa-miR-579 hsa-miR-323-3p hsa-miR-607 hsa-miR-300 hsa-miR-219-5p hsa-miR-138-2* hsa-miR-3916
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    Additional mRNA sequence: 

    AF033347.1 AK094705.1 AK095711.1 AK296293.1 BC128576.1 BX538233.1 BX538295.1 

    8 DOTS entries:

    DT.97770198  DT.211817  DT.120630292  DT.121472710  DT.207846  DT.95232233  DT.120630310  DT.121472728 

    Selected AceView cDNA sequences (see all 74):

    AF033347 NM_004519 BX102087 AK095711 Z39292 AL707265 AK094705 BX441434 
    Z43216 AL707492 BF478234 BX506936 AL707270 BF000056 AL701655 AI355924 
    BX538295 AI124734 BE894188 BX538233 BX409804 AI278419 BX409805 CK005312 

    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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    KCNQ3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATCCATTAT
    KCNQ3 Expression
    About this image


    KCNQ3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Neural Tube (Nervous System)
             Telencephalon
    KCNQ3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNQ3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.374023

    UniProtKB/Swiss-Prot: KCNQ3_HUMAN, O43525
    Tissue specificity: Predominantly expressed in brain

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNQ3: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ3

    (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 KCNQ3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnq31 , 5 potassium voltage-gated channel, subfamily Q, member more1, 5 90.44(n)1
    95.92(a)1
      15 (29.16 cM)5
    1108621  NM_152923.21  NP_690887.21 
     659863875 
    chicken
    (Gallus gallus)
    Aves KCNQ31 potassium voltage-gated channel, KQT-like subfamily, more 79.31(n)
    87.48(a)
      420325  XM_003640867.2  XP_003640915.2 
    lizard
    (Anolis carolinensis)
    Reptilia KCNQ36
    potassium voltage-gated channel, KQT-like subfamil...
    79(a)
    1 ↔ 1
    4(319630-489150)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kcnq31 potassium voltage-gated channel, KQT-like subfamily, more 70.98(n)
    77.53(a)
      101731597  XM_004915046.1  XP_004915103.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnq31 potassium voltage-gated channel, KQT-like subfamily, more 68.38(n)
    72.84(a)
      799747  XM_003197933.2  XP_003197981.1 
    worm
    (Caenorhabditis elegans)
    Secernentea kqt-13 voltage-gated potassium channel 38(a)   X(6655345-6662969)   --


    ENSEMBL Gene Tree for KCNQ3 (if available)
    TreeFam Gene Tree for KCNQ3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNQ3 gene
    KCNQ12  KCNQ22  KCNQ52  KCNQ42  
    5 SIMAP similar genes for KCNQ3 using alignment to 3 protein entries:     KCNQ3_HUMAN (see all proteins):
    KCNQ4    KCNQ5    KCNQ1    KCNQ2    KCNN4

    KCNQ3 for paralogs           About GeneDecksing



    (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 KCNQ3 (see all 7459)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0269944
    Seizures, benign familial neonatal 2 (BFNS2)4--see VAR_0269942 D G mis40--------
    VAR_0015464
    Seizures, benign familial neonatal 2 (BFNS2)4--see VAR_0015462 G V mis40--------
    VAR_0109354
    Seizures, benign familial neonatal 2 (BFNS2)4--see VAR_0109352 W R mis40--------
    rs23039951,2,,4
    C,Fnon-pathogenic1133449420(+) GCTGTT/CCTTTC 4 /E /G mis18Minor allele frequency- C:0.02NS EA NA EU 6525
    rs1181922541,2
    Cpathogenic1133415352(-) CCCCAA/GTGGGG 4 N S mis11Minor allele frequency- G:0.00NA 4550
    rs745828841,2
    C,Fpathogenic1133420303(+) TCCAGG/AGGTGA 4 /P /S mis13Minor allele frequency- A:0.00NA EU 5965
    rs1181922521,2,,4
    Cpathogenic1133427125(-) AAACAA/GTAAAG 4 N S mis10--------
    rs1181922501,2
    Cpathogenic1133461388(-) GTGGGG/TCCTGG 4 G V mis10--------
    rs24696241,2
    A--128459872(-) AAAACC/AAAAAA 2 -- int1 trp31Minor allele frequency- A:0.50NA 2
    rs38371911,2
    C--128462451(-) ACCCCC/-TTCTC 2 -- int1 trp31Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for KCNQ3 (133133105 - 133383105 bp, first 250kb of KCNQ3)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KCNQ3 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1004567CNV Deletion20482838
    esv2737595CNV Deletion23290073
    esv2737598CNV Deletion23290073
    esv2737597CNV Deletion23290073
    nsv527996CNV Loss19592680
    nsv465817CNV Loss19166990
    nsv891453CNV Gain21882294
    esv28543CNV Gain19812545
    nsv891455CNV Gain21882294
    esv275047CNV Gain+Loss21479260

    Human Gene Mutation Database (HGMD): KCNQ3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNQ3
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNQ3

    (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: 602232   
    OMIM disorders: 121201  
    UniProtKB/Swiss-Prot: KCNQ3_HUMAN, O43525
  • Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201]: A disorder characterized by clusters of
    seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and
    show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an
    earlier age at onset. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for KCNQ3 (see all 24):    
    About MalaCards
    seizures, benign neonatal, type 2    kcnq3-related benign familial neonatal epilepsy    myokymia with neonatal epilepsy    kcnq2-related disorders
    seizures, benign neonatal, 1    convulsions benign familial neonatal dominant form    benign neonatal seizures    myokymia
    epilepsy, juvenile myoclonic 8    benign familial infantile seizures 2    speech disorder    episodic ataxia
    epilepsy syndrome    juvenile myoclonic epilepsy    long qt syndrome    idiopathic generalized epilepsy
    myoclonus    was-related disorders    brain disease    migraine

    4 diseases from the University of Copenhagen DISEASES database for KCNQ3:
    Brain disease     Long QT syndrome     Episodic ataxia     Speech disorder

    KCNQ3 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for KCNQ3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial benign neonatal convulsions 98.6 20 10852552 (2), 9827540 (1), 10446744 (1), 11579434 (1) (see all 18)
    neonatal convulsions benign 90.1 2 10884071 (1), 18625963 (1)
    epilepsy, idiopathic generalized 84.1 4 10996506 (1), 19464834 (1), 9677360 (1), 10941184 (1)
    epilepsy frontal lobe 78.3 3 11579434 (1), 11888238 (1), 15264690 (1)
    epilepsy 74.2 15 19464834 (2), 18625963 (2), 9827540 (1), 10996506 (1) (see all 11)
    epilepsy generalized 72.9 1 11784811 (1)
    seizures febrile 72.4 1 19853223 (1)

    Genetic Association Database (GAD): KCNQ3
    Human Genome Epidemiology (HuGE) Navigator: KCNQ3 (8 documents)

    Export disorders for KCNQ3 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 KCNQ3 gene, integrated from 10 sources (see all 110):
    (articles sorted by number of sources associating them with KCNQ3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine. (PubMed id 10908292)1, 2, 7 Main M.J.... Burbidge S.A. (Mol. Pharmacol. 2000)
    2. Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels. (PubMed id 10953053)1, 2, 7 Wickenden A.D.... Wagoner P.K. (Mol. Pharmacol. 2000)
    3. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. (PubMed id 9425900)1, 2, 3 Charlier C....Leppert M. (Nat. Genet. 1998)
    4. Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy. (PubMed id 9677360)1, 2, 9 Yang W.-P.... Blanar M.A. (J. Biol. Chem. 1998)
    5. Surface expression and single channel properties of KCNQ2/KCNQ3, M- type K+ channels involved in epilepsy. (PubMed id 10788442)1, 2, 9 Schwake M.... Jentsch T.J. (J. Biol. Chem. 2000)
    6. A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions. (PubMed id 10852552)1, 2, 9 Hirose S.... Mitsudome A. (Ann. Neurol. 2000)
    7. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. (PubMed id 14534157)1, 2, 9 Singh N.A.... Leppert M.F. (Brain 2003)
    8. Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current. (PubMed id 10684873)1, 2, 9 Shapiro M.S....Hille B. (J. Neurosci. 2000)
    9. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. (PubMed id 9872318)1, 2, 9 Schroeder B.C.... Jentsch T.J. (Nature 1998)
    10. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PubMed id 18676988)1, 4, 9 Nyholt D.R....Palotie A. (Hum. Mol. Genet. 2008)

    (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: 3786 HGNC: 6297 AceView: KCNQ3 Ensembl:ENSG00000184156 euGenes: HUgn3786
    ECgene: KCNQ3 Kegg: 3786 H-InvDB: KCNQ3

    (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 KCNQ3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KCNQ3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KCNQ3[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 KCNQ3 gene:
    Search GeneIP for patents involving KCNQ3

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



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