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KCNQ5 Gene

protein-coding   GIFtS: 59
GCID: GC06P073331

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

  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 51 2     Kv7.52
Potassium Channel Subunit Alpha KvLQT52 3     Potassium Channel Protein2
Voltage-Gated Potassium Channel Subunit Kv7.52 3     Potassium Voltage-Gated Channel Subfamily KQT Member 52
KQT-Like 52 3     

External Ids:    HGNC: 62991   Entrez Gene: 564792   Ensembl: ENSG000001857607   OMIM: 6073575   UniProtKB: Q9NR823   

Export aliases for KCNQ5 gene to outside databases

Previous GC identifers: GC06P073290 GC06P073327 GC06P073388 GC06P070530


(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 KCNQ5 Gene:
This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of
the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with
depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed
from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also
inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have
been found for this gene. (provided by RefSeq, May 2009)

GeneCards Summary for KCNQ5 Gene:
KCNQ5 (potassium voltage-gated channel, KQT-like subfamily, member 5) is a protein-coding gene. Diseases associated with KCNQ5 include refractive error, and myopia. GO annotations related to this gene include inward rectifier potassium channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNQ1.

UniProtKB/Swiss-Prot: KCNQ5_HUMAN, Q9NR82
Function: Probably important in the regulation of neuronal excitability. Associates with KCNQ3 to form a potassium
channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which
plays a critical role in determining the subthreshold electrical excitability of neurons. May contribute, with
other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in
kinetic and pharmacological properties, which underlie this physiologically important current. Insensitive to
tetraethylammonium, but inhibited by barium, linopirdine and XE991. Activated by niflumic acid and the
anticonvulsant retigabine. Muscarine suppresses KCNQ5 current in Xenopus oocytes in which cloned KCNQ5 channels
were coexpressed with M(1) muscarinic receptors

Gene Wiki entry for KCNQ5 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_000006.12  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNQ5 gene promoter:
         AhR   MEF-2   RelA   NF-kappaB   Arnt   MEF-2A   Cart-1   c-Myb   aMEF-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNQ5 promoter sequence
   Search Chromatin IP Primers for KCNQ5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNQ5


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

Entrez Gene cytogenetic band: 6q14   Ensembl cytogenetic band:  6q13   HGNC cytogenetic band: 6q14

KCNQ5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNQ5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P073331:  view genomic region     (about GC identifiers)

Start:
73,331,520 bp from pter      End:
73,908,574 bp from pter
Size:
577,055 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, 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: KCNQ5_HUMAN, Q9NR82 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily KQT member 5  
Size: 932 amino acids; 102179 Da
Subunit: Heteromultimer with KCNQ3
Sequence caution: Sequence=BAG61495.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B4DS33 B5MC83 B7ZL37 F5GZV0 Q17RE1 Q5VVP3 Q86W40 Q9NRN0 Q9NYA6
Alternative splicing: 5 isoforms:  Q9NR82-1   Q9NR82-2   Q9NR82-3   Q9NR82-4   Q9NR82-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KCNQ5: NX_Q9NR82

Explore proteomics data for KCNQ5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCNQ5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001153602.1  NP_001153604.1  NP_001153605.1  NP_001153606.1  NP_062816.2  

    ENSEMBL proteins: 
     ENSP00000345055   ENSP00000359425   ENSP00000359419   ENSP00000414829   ENSP00000391971  
     ENSP00000388098   ENSP00000347326   ENSP00000385501   ENSP00000347853   ENSP00000384453  
     ENSP00000409861  
    Reactome Protein details: Q9NR82

    KCNQ5 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: Kv7.5
    Voltage-gated potassium channels

    5 InterPro protein domains:
     IPR005821 Ion_trans_dom
     IPR003937 K_chnl_volt-dep_KCNQ
     IPR028325 VG_K_chnl
     IPR003091 K_chnl
     IPR013821 K_chnl_volt-dep_KCNQ_C

    Graphical View of Domain Structure for InterPro Entry Q9NR82

    ProtoNet protein and cluster: Q9NR82

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

    UniProtKB/Swiss-Prot: KCNQ5_HUMAN, Q9NR82
    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. Kv7.5/KCNQ5 sub-subfamily


    KCNQ5 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: KCNQ5_HUMAN, Q9NR82
    Function: Probably important in the regulation of neuronal excitability. Associates with KCNQ3 to form a potassium
    channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which
    plays a critical role in determining the subthreshold electrical excitability of neurons. May contribute, with
    other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in
    kinetic and pharmacological properties, which underlie this physiologically important current. Insensitive to
    tetraethylammonium, but inhibited by barium, linopirdine and XE991. Activated by niflumic acid and the
    anticonvulsant retigabine. Muscarine suppresses KCNQ5 current in Xenopus oocytes in which cloned KCNQ5 channels
    were coexpressed with M(1) muscarinic receptors

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005242inward rectifier potassium channel activity TAS10787416
    GO:0005249voltage-gated potassium channel activity ----
    GO:0005251delayed rectifier potassium channel activity IBA--
         
    KCNQ5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNQ5:
     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kcnq5):
     mortality/aging  nervous system 

    KCNQ5 for phenotypes           About GeneDecksing

    Animal Models:
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    hsa-miR-194* hsa-miR-548j hsa-miR-607 hsa-miR-15a hsa-miR-877* hsa-miR-208b hsa-miR-548a-5p hsa-miR-2113
    SwitchGear 3'UTR luciferase reporter plasmidKCNQ5 3' UTR sequence
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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
    KCNQ5_HUMAN, Q9NR82: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    KCNQ5 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 KCNQ5 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.68
    3Circadian entrainment
    Cholinergic synapse0.37
    4Synaptic transmission ion currents
    Synaptic transmission ion currents
    5Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNQ5
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 Reactome Pathway for KCNQ5
        Voltage gated Potassium channels

    1 PharmGKB Pathway for KCNQ5
        Celecoxib Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for KCNQ5):
        Cholinergic synapse


    KCNQ5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCNQ5
    Interactions:

        GeneGlobe Interaction Network for KCNQ5

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

    Selected Interacting proteins for KCNQ5 (Q9NR823 ENSP000003594254) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=3 STRING: ENSP00000349467
    CALM2P621583I2D: score=3 
    CALM3P621583I2D: score=3 
    DISC1Q9NRI53, ENSP000003555964I2D: score=2 STRING: ENSP00000355596
    KCNQ3O435253, ENSP000003736484I2D: score=2 STRING: ENSP00000373648
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly NAS10787416
    GO:0006811ion transport ----
    GO:0006813potassium ion transport ----
    GO:0007268synaptic transmission TAS--
    GO:0055085transmembrane transport ----

    KCNQ5 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 

    Browse Tocris compounds for KCNQ5

    1 HMDB Compound for KCNQ5    About this table
    CompoundSynonyms CAS #PubMed Ids
    PotassiumK+ (see all 16)7440-09-7--

    1 DrugBank Compound for KCNQ5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Ezogabine D-23129 (see all 5)150812-12-7target--16713428 12545144 17184917

    7 IUPHAR Ligands for KCNQ5 (Kv7.5)    About this table
    LigandTypeActionAffinityPubmed IDs
    BMS204352
    ActivatorNone5.611890900
    zinc pyrithione
    ActivatorNone517435769
    retigabine
    ActivatorNone511890900
    linopirdine
    Pore BlockerNone4.510787416 10816588
    XE991
    Pore BlockerNone4.210816588
    tetraethylammonium
    Pore BlockerNone1.1 - 1.510787416 10816588
    N-(S)-MPEPAamide
    ActivatorNone1.1 - 1.516904708

    3 Novoseek inferred chemical compound relationships for KCNQ5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    linopirdine 90.8 1 10787416 (1)
    retigabine 86.7 2 11890900 (1), 15901787 (1)
    potassium 60.8 6 10787416 (2), 16301825 (1), 10816588 (1), 16914890 (1) (see all 5)



    KCNQ5 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 KCNQ5 gene (5 alternative transcripts): 
    NM_001160130.1  NM_001160132.1  NM_001160133.1  NM_001160134.1  NM_019842.3  

    Unigene Cluster for KCNQ5:

    Potassium voltage-gated channel, KQT-like subfamily, member 5
    Hs.445324  [show with all ESTs]
    Unigene Representative Sequence: NM_001160133
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342056(uc003pgj.4 uc011dyh.2 uc011dyi.2 uc010kat.3 uc003pgk.3 uc011dyj.2 uc011dyk.2)
    ENST00000370398 ENST00000370392 ENST00000443915 ENST00000441538 ENST00000427928
    ENST00000355194 ENST00000402622 ENST00000355635 ENST00000403813 ENST00000414165

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    hsa-miR-194* hsa-miR-548j hsa-miR-607 hsa-miR-15a hsa-miR-877* hsa-miR-208b hsa-miR-548a-5p hsa-miR-2113
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    Additional mRNA sequence: 

    AF202977.1 AF249278.1 AF263835.1 AK299550.1 AK299741.1 AK316070.1 BC050689.1 BC117359.1 
    BC143554.1 BC143555.1 

    6 DOTS entries:

    DT.91663714  DT.104559  DT.100677883  DT.75156801  DT.91663713  DT.91743072 

    Selected AceView cDNA sequences (see all 27):

    AF202977 NM_019842 BC050689 CD629763 BG532543 BE158938 CD629765 CD629757 
    AF249278 BU621594 CD629755 AF263835 BI034993 CD629753 BG185229 BG185740 
    BQ340178 BG218030 BF959488 CD629759 BF954374 CD629751 BF240146 BU187082 

    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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    KCNQ5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCNQ5 Expression
    About this image


    KCNQ5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Heart (Cardiovascular System)
             Cardiomyocyte-like progenitor cells
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
     
     Liver (Hepatobiliary System)
             Mesothelial Cells Hepatic Mesenchyme
     
     Neural Tube (Nervous System)
             Mesencephalic Floor Plate
     
     Lung (Respiratory System)
    KCNQ5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNQ5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.445324

    UniProtKB/Swiss-Prot: KCNQ5_HUMAN, Q9NR82
    Tissue specificity: Strongly expressed in brain and skeletal muscle. In brain, expressed in cerebral cortex,
    occipital pole, frontal lobe and temporal lobe. Lower levels in hippocampus and putamen. Low to undetectable
    levels in medulla, cerebellum and thalamus

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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 KCNQ5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnq51 , 5 potassium voltage-gated channel, subfamily Q, member more1, 5 90.34(n)1
    95.49(a)1
      1 (6.67 cM)5
    2269221  NM_023872.31  NP_076361.11 
     213984035 
    chicken
    (Gallus gallus)
    Aves KCNQ51 potassium voltage-gated channel, KQT-like subfamily, more 77.75(n)
    82.47(a)
      421866  XM_004940432.1  XP_004940489.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNQ56
    potassium voltage-gated channel, KQT-like subfamil...
    83(a)
    1 ↔ 1
    GL343341.1(198526-282562)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kcnq51 potassium voltage-gated channel, KQT-like subfamily, more 74.78(n)
    78.89(a)
      100488199  XM_002937155.2  XP_002937201.2 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnq5a1 potassium voltage-gated channel, KQT-like subfamily, more 64.46(n)
    68.69(a)
      556841  XM_679763.4  XP_684855.4 
    worm
    (Caenorhabditis elegans)
    Secernentea kqt-11 , 3 voltage-gated potassium channel3
    kqt-11
    45(a)
    (best of 2)3
    53.87(n)1
    48.15(a)1
      X(6655345-6662969)3
    1809331  NM_171709.31  NP_741819.11 


    ENSEMBL Gene Tree for KCNQ5 (if available)
    TreeFam Gene Tree for KCNQ5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNQ5 gene
    KCNQ12  KCNQ32  KCNQ22  KCNQ42  
    4 SIMAP similar genes for KCNQ5 using alignment to 7 protein entries:     KCNQ5_HUMAN (see all proteins):
    KCNQ4    KCNQ2    KCNQ1    KCNQ3

    KCNQ5 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)
    About This Section

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    Selected SNPs for KCNQ5 (see all 9387)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357734
    A colorectal cancer sample4--see VAR_0357732 R C mis40--------
    VAR_0357724
    A colorectal cancer sample4--see VAR_0357722 W G mis40--------
    rs1485436371,2
    Cuntested173904448(+) TCTACG/ACGCTT 10 /T /A mis11Minor allele frequency- A:0.00NA 4550
    rs585473371,2
    C,F--73329722(+) GTAGCC/AGTCTG 5 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1467503391,2
    --73329903(+) CACCCC/TCTCCC 5 -- us2k10--------
    rs122058341,2
    C,F--73330043(+) TGTGAA/TGTGTA 5 -- us2k15Minor allele frequency- T:0.07NA WA EA 362
    rs77464561,2
    C,F,A,H--73330069(+) AGAGTG/AACTCT 5 -- us2k15Minor allele frequency- A:0.10NS EA WA 532
    rs1919135911,2
    --73330332(+) GAGAAC/TTGGGA 5 -- us2k10--------
    rs1839927031,2
    --73330352(+) TCTCGA/GAGGGG 5 -- us2k10--------
    rs1884364501,2
    --73330374(+) GCAAGA/GAGACT 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for KCNQ5 (73331520 - 73581520 bp, first 250kb of KCNQ5)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KCNQ5 (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2732281CNV Deletion23290073
    esv2732279CNV Deletion23290073
    esv2179651CNV Deletion18987734
    esv2732280CNV Deletion23290073
    esv2658922CNV Deletion23128226
    esv2666317CNV Deletion23128226
    esv2732282CNV Deletion23290073
    esv2732283CNV Deletion23290073
    esv1004012CNV Deletion20482838
    dgv1130e199CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNQ5
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNQ5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607357    OMIM disorders: --

    9 diseases for KCNQ5:    
    About MalaCards
    refractive error    myopia    breast and colorectal cancer    cerebritis
    schizophrenia    tonsillitis    colorectal cancer    hepatitis
    neuronitis


    KCNQ5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCNQ5
    Human Genome Epidemiology (HuGE) Navigator: KCNQ5 (5 documents)

    Export disorders for KCNQ5 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)
    About This Section

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    PubMed articles for KCNQ5 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with KCNQ5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and functional expression of KCNQ5, a potassium channel subunit that may contribute to neuronal M-current diversity. (PubMed id 10787416)1, 2, 3, 9 Lerche C....Steinmeyer K. (J. Biol. Chem. 2000)
    2. KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents. (PubMed id 10816588)1, 2, 3, 9 Schroeder B.C....Jentsch T.J. (J. Biol. Chem. 2000)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (Pharmacol. Rev. 2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    8. Characterization of KCNQ5/Q3 potassium channels expressed in mammalian cells. (PubMed id 11159685)1, 2 Wickenden A.D.... Jegla T. (Br. J. Pharmacol. 2001)
    9. Expression profile and characterisation of a truncated KCNQ5 splice variant. (PubMed id 18457656)1, 9 Yeung S.Y....Greenwood I.A. (Biochem. Biophys. Res. Commun. 2008)
    10. Differential protein kinase C-dependent modulation of Kv7.4 and Kv7.5 subunits of vascular Kv7 channels. (PubMed id 24297175)1 Brueggemann L.I....Byron K.L. (J. Biol. Chem. 2014)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 56479 HGNC: 6299 AceView: KCNQ5 Ensembl:ENSG00000185760 euGenes: HUgn56479
    ECgene: KCNQ5 Kegg: 56479 H-InvDB: KCNQ5

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for KCNQ5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for KCNQ5 gene:
    Search GeneIP for patents involving KCNQ5

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



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