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KCNQ1 Gene

protein-coding   GIFtS: 71

GC11P002256
potassium voltage-gated channel, KQT-like subfamily, member 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: LQT, KCNA9)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
potassium voltage-gated channel, KQT-like subfamily, member 11 2     ATFB32 5
KVLQT11 2 3 5     ATFB12
KCNA81 2 3     Kv1.92
KCNA92 3 5     LQT2
JLNS11 2     WRS2
Kv7.11 2     RWS2
Voltage-gated potassium channel subunit Kv7.12 3     FLJ261672
KQT-like 12 3     potassium voltage-gated channel subfamily KQT member 12
IKs producing slow voltage-gated potassium channel subunit alpha KvLQT12 3     kidney and cardiac voltage dependend K+ channel2
SQT22 5     slow delayed rectifier channel subunit2
LQT12 5     

External Ids:    HGNC: 62941   Entrez Gene: 37842   Ensembl: ENSG000000539187   UniProtKB: P517873   

Export aliases for KCNQ1 gene to outside databases

Previous GC identifers: GC11P002527 GC11P002669 GC11P002425 GC11P002430 GC11P002422 GC11P002466


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KCNQ1:
This gene encodes a voltage-gated potassium channel required for the repolarization phase of the cardiac action
potential. The gene product can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3.
Mutations in this gene are associated with hereditary long QT syndrome (also known as Romano-Ward syndrome), Jervell
and Lange-Nielsen syndrome and familial atrial fibrillation. The gene is located in a region of chromosome 11 that
contains a number of contiguous genes, which are abnormally imprinted in cancer and the Beckwith-Wiedemann syndrome.
This gene is also imprinted, with preferential expression from the maternal allele in some tissues, excluding cardiac
muscle. Alternatively spliced transcripts encoding distinct isoforms have been described. (provided by RefSeq)

UniProtKB/Swiss-Prot: KCNQ1_HUMAN, P51787
Function: Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiac
potassium current. Elicits a rapidly activating, potassium-selective outward current. Muscarinic agonist
oxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels were
coexpressed with M1 muscarinic receptors. May associate also with KCNE3 (MiRP2) to form the potassium channel that is
important for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic fibrosis and
pathologically stimulated in cholera and other forms of secretory diarrhea

summary for KCNQ1:
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 KCNQ1 (KvLQT1)

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNQ1 gene promoter:
         Sp1   PPAR-gamma1   PPAR-gamma2   POU3F2   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   NF-1   HSF1 (long)   AREB6   HSF2   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for KCNQ1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for KCNQ1 


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

KCNQ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNQ1 gene location

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P002256:  view genomic region     (about GC identifiers)

Start:
2,256,183 bp from pter
End:
2,870,221 bp from pter
Size:
614,039 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: KCNQ1_HUMAN, P51787 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily KQT member 1  
Size: 676 amino acids; 74699 Da
Subunit: Heterotetramer with KCNE1 (MinK) or KCNE3 (MiRP2). Interacts with CALM
Subcellular location: Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane
protein
Miscellaneous: Mutagenesis experiments were carried out by expressing in Xenopus oocytes or COS-7 cells KCNQ1 mutants
either individually (homomultimers) or in combination with both wild-type KCNQ1 (mut/wt homomultimers) and minK
(heteromultimers)
PDB structures from and Proteopedia :
3BJ4 (3D)    3HFC (3D)    3HFE (3D)    
Secondary accessions: O00347 O60607 O94787 Q7Z6G9 Q92960 Q9UMN8 Q9UMN9
Alternative splicing: 2 isoforms:  P51787-1   P51787-2   (Additional isoforms seem to exist)

Explore the universe of human proteins at neXtProt for KCNQ1: NX_P51787 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_000209.2  NP_861463.1  


    ENSEMBL proteins: 
    ENSP00000342896 ENSP00000370153 ENSP00000155840 ENSP00000334497 


    Human Recombinant Proteins 
    Millipore Purified and/or Recombinant KCNQ1 Protein
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: KCNQ1
    GenScript Custom Purified and Recombinant Proteins Services for KCNQ1 
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887 integral to plasma membrane ----
    GO:0008076 voltage-gated potassium channel complex IC8900283
    GO:0016020 membrane ----
    GO:0030659 cytoplasmic vesicle membrane IEA--
    GO:0031410 cytoplasmic vesicle IEA--
    About this table

    KCNQ1 for ontologies           About GeneDecksing



    Antibodies for KCNQ1: 
    Millipore Mono- and Polyclonal Antibodies for the study of KCNQ1
    Sigma-Aldrich Antibodies for KCNQ1
    Browse R&D Systems for Antibodies
    OriGene Antibodies: KCNQ1
    GenScript Custom Superior Antibodies Services for KCNQ1 
    Novus Biologicals Antibodies for KCNQ1
    Browse antibodies at Epitomics

    Assays for KCNQ1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KCNQ1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for KCNQ1 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KCNQ1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR005827 K_chnl_volt-dep_KCQN1
     IPR005821 Ion_trans
     IPR003937 K_chnl_volt-dep_KCNQ
     IPR003091 K_chnl
     IPR013821 K_chnl_volt-dep_KCNQ_C

    Graphical View of Domain Structure for InterPro Entry P51787

    ProtoNet protein and cluster: P51787

    2 Blocks protein families:
    IPB005827 KCNQ1 voltage-gated potassium channel signature
    IPB013821 KCNQ voltage-gated potassium channel


    UniProtKB/Swiss-Prot: KCNQ1_HUMAN, P51787
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino
    acids at every third position
    Similarity: Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: KCNQ1_HUMAN, P51787
    Function: Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiac
    potassium current. Elicits a rapidly activating, potassium-selective outward current. Muscarinic agonist
    oxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels were
    coexpressed with M1 muscarinic receptors. May associate also with KCNE3 (MiRP2) to form the potassium channel that is
    important for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic fibrosis and
    pathologically stimulated in cholera and other forms of secretory diarrhea

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for KCNQ1
    Sigma-Aldrich shRNA Panels and shRNA for KCNQ1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): KCNQ1
    OriGene shRNA RFP (see all 3): KCNQ1
    OriGene basic RS shRNA (see all 3): KCNQ1
    OriGene siRNA (see all 3): KCNQ1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of KCNQ1 
    miRNA:Sigma-Aldrich microRNA Mimics for KCNQ1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of KCNQ1 
    1 SABiosciences Assays for microRNA that regulate KCNQ1:
    hsa-miR-365

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Millipore Clones for the Expression of KCNQ1
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): KCNQ1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): KCNQ1
    OriGene untagged cDNA clones in CMV expression vector (see all 2): KCNQ1
    OriGene 3'-UTR clone (see all 2): KCNQ1 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): KCNQ1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for KCNQ1 

    Genatlas biochemistry entry for KCNQ1:
    potassium voltage-gated channel,KQT subfamily,member 1,Drosophila shaker-related subfamily,associating with KCNE1 to
    form the slow delayed-rectifier IKS channel,paternally imprinted (centromeric imprinting domain at 11p15,containing
    TSSC3,TSSC5 and KCNQ1) in a tissue specific pattern with six isoforms,predominantly expressed in heart,also in stria
    vascularis that secretes the endolymph,not expressed in skeletal muscle,may be disrupted in (some) Beckwith-Wiedemann
    syndromes,see also LIT1

    5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216 ion channel activity ----
    GO:0005244 voltage-gated ion channel activity IEA--
    GO:0005249 voltage-gated potassium channel activity TAS8528244
    GO:0005251 delayed rectifier potassium channel activity IDA8900283
    GO:0005267 potassium channel activity ----
    About this table

    KCNQ1 for ontologies           About GeneDecksing

    Animal Models: 8 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Kcnq1):

    behavior/neurologicalcardiovascular systemdigestive/alimentarygrowth/sizehearing/vestibular/ear
    homeostasis/metabolismnervous systemnormal

    KCNQ1 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    KCNQ1 for pathways           About GeneDecksing

    1 Millipore Pathway for KCNQ1
        Potassium transporters- outward current

    4 Kegg Pathways  (Kegg details for KCNQ1):
        hsa04971 Gastric acid secretion
    hsa04972 Pancreatic secretion
    hsa04974 Protein digestion and absorption
    hsa05110 Vibrio cholerae infection

        SABiosciences Pathway-Focused PCR Array including KCNQ1: PAHS-036A 

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNQ1

    5/46 Interacting proteins for KCNQ1 (ENSP000003701533 P517871, 2) via UniProtKB, MINT, and/or STRING (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNE1P153822STRING: ENSP00000337255 MINT-7297878 MINT-7297906 MINT-7297829 MINT-7297854 MINT-7297812
    GRB2P629931EBI-359667,EBI-401755
    TRAF6Q9Y4K32MINT-47934 MINT-49606
    CALM1P621582MINT-7297878
    CALM2P621582
    About this table

    5/13 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 13):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006349 regulation of gene expression by genetic imprinting IEA--
    GO:0006811 ion transport IEA--
    GO:0006813 potassium ion transport IDA8900283
    GO:0006936 muscle contraction TAS8528244
    GO:0007605 sensory perception of sound TAS9020846
    About this table

    KCNQ1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    KCNQ1 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KCNQ1 available from Tocris Bioscience
    CompoundAction CAS number
    AM 92016 hydrochlorideKV channel blocker[178894-81-0]
    JNJ 303Potent and selective IKs blocker[878489-28-2]
    L-364,373 KCNQ1 (KVLQT1) channel activator, activates IKs [103342-82-1]
    Linopirdine dihydrochlorideKCNQ channel blocker[105431-72-9]
    XE 991 dihydrochloride Potent, selective KCNQ channel blocker; blocks M-current [122955-42-4]
    About this table


    10/27 Novoseek chemical compound relationships for KCNQ1 gene (see all 27)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chromanol 293b 88.4 3 9929573 (1), 16909339 (1), 11739240 (1)
    potassium 81.7 124 12710526 (3), 8528244 (3), 9570196 (2), 12879210 (2) (see all 82)
    chromanol 73.7 8 9396783 (3), 18264812 (1), 15947250 (1), 19139916 (1)
    nap-2 72 1 9268640 (1)
    clofilium 58.8 1 14729507 (1)
    sodium 41.9 19 10613047 (2), 9570196 (1), 11259355 (1), 9445165 (1) (see all 13)
    clotrimazole 39.4 1 14729507 (1)
    cromakalim 15.3 1 9396783 (1)
    86rb 14.9 2 10620287 (2)
    isoleucine 11.8 2 19056345 (1), 11802537 (1)
    About this table

    4 PharmGKB drug compound relationships for KCNQ1 gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    antiarrhythmicsCO  FA  GN  8900282 8900283 10646604 11799244 11997281
    cisapridePD  FA  GN  20324596
    epinephrinePD  12004990
    xenobioticsCO  PD  9386136
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for KCNQ1
    Sigma-Aldrich shRNA Panels and shRNA for KCNQ1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): KCNQ1
    OriGene shRNA RFP (see all 3): KCNQ1
    OriGene basic RS shRNA (see all 3): KCNQ1
    OriGene siRNA (see all 3): KCNQ1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of KCNQ1 
    miRNA: Sigma-Aldrich microRNA Mimics for KCNQ1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of KCNQ1 
    1 SABiosciences Assays for microRNA that regulate KCNQ1:
    hsa-miR-365
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): KCNQ1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): KCNQ1
    OriGene untagged cDNA clones in CMV expression vector (see all 2): KCNQ1
    OriGene 3'-UTR Clone (see all 2): KCNQ1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): KCNQ1 
    Primers: OriGene genome-wide validated SYBR primer pairs: KCNQ1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for KCNQ1: PPH01419A

    REFSEQ mRNAs for KCNQ1 gene (2 alternative transcripts): 

    NM_000218.2  NM_181798.1  

    Additional cDNA sequence: 

    AF000571.1 AF003743.1 AF051426.1 AJ006344.1 AK129678.1 AK226077.1 AK290618.1 BC017074.1 
    BC113545.1 BX640740.1 CR608266.1 EF010934.1 EF010935.1 U86146.1 

    8 DOTS entries:

    DT.311767  DT.100813998  DT.120693177  DT.100000877  DT.120693151  DT.86842863  DT.95168331  DT.100816705 

    24/98 AceView cDNA sequences (see all 98):

    BM553823 AI738525 AU141948 BM821874 NM_000218 NM_181797 BF512683 AF003743 
    AW090819 NM_181798 BC017074 BM852160 BF221828 AI868916 AI344116 CR608266 
    AW136422 U86146 C01650 AK129678 AW006385 AW205864 AI347525 AW138991 

    12 RNAdb entries of non coding RNAs:

    LIT1655    LIT1659    LIT1661    LIT1624    LIT1660    LIT1658    LIT1654    LIT1625    LIT1657    LIT1652   
    LIT1653    LIT1656   

    highest scoring ESTs for KCNQ1:

    AF000571 AF051426 AA349312 AA352245 AA471050 AA513376 AA564375 AA603649 AA824263 AI142819 

    Unigene Cluster for KCNQ1:

    Potassium voltage-gated channel, KQT-like subfamily, member 1
    Hs.95162  [show with all ESTs]
    Unigene Representative Sequence: BX640740


    GeneLoc Exon Structure

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000345015 ENST00000380776 ENST00000496887 ENST00000155840(uc009ydo.1 uc001lwn.2 uc001lwo.2)
    ENST00000335475(uc009ydp.1)

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    KCNQ1 expression in normal and diseased human tissues

    1  / 2  / 3

    6 probe-sets matching KCNQ1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    32077_s_at2, 3 U95-A 1 1.00 1.00 0.76 0.24 AF051426 1.00 1.00 1.00 1
    40527_at2, 3 U95-A 1 0.94 1.00 1.00 1.00 AF000571 1.00 1.00 1.00 1
    211217_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF051426 1.00 1.00 1.00 1
    204487_s_at2, 3 U133-A 1 0.82 1.00 -- -- NM_000218 0.60 1.00 0.82 1
    211217_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    204487_s_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
    About this table

    KCNQ1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    KCNQ1 gene expression
    KCNQ1 gene electronic northern expression
    KCNQ1 gene sage expression
    About these images

    CGAP SAGE TAG: GGCAGGAGAC

    SOURCE GeneReport for Unigene cluster: Hs.95162

    Expression variation in blood from EXPOLDB for KCNQ1

    UniProtKB/Swiss-Prot: KCNQ1_HUMAN, P51787
    Tissue specificity: Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood
    leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries

    Primers: OriGene genome-wide validated SYBR primer pairs: KCNQ1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for KCNQ1: PPH01419A
        SABiosciences Expression via Pathway-Focused PCR Array including KCNQ1: PAHS-036A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for KCNQ1 gene from 5/9 species (see all 9)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    KCNQ11   -- potassium voltage-gated channel, KQT-like subfamily, more 89.44(n)
    92.45(a)
    483669  XM_540790.2  XP_540790.2 
    cow
    (Bos taurus)
    KCNQ11   -- potassium voltage-gated channel, KQT-like subfamily, more 87.77(n)
    91.17(a)
    784876  XM_001252337.1  XP_001252338.1 
    rat
    (Rattus norvegicus)
    Kcnq11   -- potassium voltage-gated channel, subfamily Q, member more 85.31(n)
    90.7(a)
    84020  NM_032073.1  NP_114462.1 
    mouse
    (Mus musculus)
    Kcnq11 , 5 7 (88.12 cM)5
    potassium voltage-gated channel, subfamily Q, member more1, 5 85.24(n)1
    89.79(a)1
    165351  NM_008434.21  NP_032460.21 
     AB0796035  AJ0021995  (see all 21)
    chicken
    (Gallus gallus)
    KCNQ11   -- potassium voltage-gated channel, KQT-like subfamily, more 73.31(n)
    83.41(a)
    423090  XM_421022.2  XP_421022.2 
    About this table        Species with no ortholog for KCNQ1

    ENSEMBL Gene Tree for KCNQ1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for KCNQ1 gene
    KCNQ32  KCNQ22  KCNQ52  KCNQ42  

    KCNQ1 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/4371 NCBI SNPs in KCNQ1 are shown (see all 4371)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs82341,2
    C,F,O,A,H,2870108(+) ATTACA/GTCGCA 2 -- ut31 ese314Minor allele frequency- G:0.49MN NS EA NA WA 1010
    rs107981,2
    C,F,A,H,2870165(+) TTCACG/AGTGTG 2 -- ut31 ese323Minor allele frequency- A:0.43MN NS EA NA WA 1864
    rs639341,2
    C,F,O,A,2789062(+) TTTCCA/GGAGGA 2 -- int1100Minor allele frequency- C:0.00NA EA NS PA EU CA WA 6584
    rs780131,2
    C,F,O,A,2819259(+) CCCAAC/G/TTGCAC 2 -- int19NA EA WA 358
    rs781311,2
    C,F,A,2727517(-) CCCCAG/AAATCA 2 -- int18Minor allele frequency- A:0.25NA EA WA 220
    rs812041,2
    C,F,O,A,2798305(+) TGCAAC/TGGACT 2 -- int113Minor allele frequency- N:0.00NS EA MN NA WA 1018
    rs812051,2
    C,F,O,A,H,2798804(-) CTGTTG/TGCATC 2 -- int110Minor allele frequency- T:0.46NA WA 226
    rs841781,2
    C,A,H,2774374(-) GCTCCC/TCGCAA 2 -- int18Minor allele frequency- T:0.06NA WA 86
    rs863921,2
    C,F,A,H,2727185(+) AGAGTT/CATTGG 2 -- int114Minor allele frequency- C:0.39NA EA MN WA 864
    rs1089611,2
    C,F,A,2757985(-) CAGCCG/ACATAC 2 -- int120Minor allele frequency- A:0.31NS EA NA WA 2864
    About this table

    HapMap Linkage Disequilibrium images for KCNQ1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for KCNQ1
         7 CNVs: 29898 29895 3832 30533 29897 48782 48781
         2 Indels: 65841 60033

    QIAGEN SeqTarget long-range PCR primers for resequencing KCNQ1 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    KCNQ1 for disorders           About GeneDecksing

    OMIM: 607542   disorders: 192500  220400  607554  609621  

    UniProtKB/Swiss-Prot: KCNQ1_HUMAN, P51787

  • Defects in KCNQ1 are the cause of long QT syndrome type 1 (LQT1) [MIM:192500]; also known as Romano-Ward
  • syndrome (RWS). Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and
    polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress.
    LQT1 inheritance is an autosomal dominant
  • Defects in KCNQ1 are the cause of Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400]. JLNS1 is an
  • autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks
    due to ventricular arrhythmias, and a high risk of sudden death
  • Defects in KCNQ1 are the cause of atrial fibrillation familial type 3 (ATFB3) [MIM:607554]. Atrial
  • fibrillation is a common disorder of cardiac rhythm that is hereditary in a small subgroup of patients. It is
    characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in
    the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and
    congestive heart failure
  • Defects in KCNQ1 are the cause of short QT syndrome type 2 (SQT2) [MIM:609621]. Short QT syndromes are heart
  • disorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural
    heart disease in affected individuals. They cause syncope and sudden death

    10/26 Novoseek disease relationships for KCNQ1 gene (see all 26)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    long qt syndrome 96.3 115 17091796 (3), 15935335 (3), 11289718 (2), 12653681 (2) (see all 85)
    romano-ward syndrome 94.7 19 9641694 (1), 10737999 (1), 16929947 (1), 16981927 (1) (see all 17)
    atrial fibrillation, familial 91 3 17467630 (1), 15947250 (1), 12522251 (1)
    death sudden 83.9 19 11289718 (1), 19540844 (1), 9476573 (1), 15746441 (1) (see all 16)
    torsades de pointes 83.8 3 18808722 (1), 10077519 (1), 14769199 (1)
    beckwith-wiedemann syndrome 79.6 4 10393948 (1), 10197590 (1), 10220444 (1), 11120752 (1)
    arrhythmia 75.8 39 8528244 (3), 17360457 (2), 18192214 (1), 18426444 (1) (see all 29)
    congenital deafness 73.3 4 10737999 (1), 16929947 (1), 9302275 (1), 11120752 (1)
    ventricular tachyarrhythmia 72 1 8528244 (1)
    death sudden cardiac 70.6 3 16436635 (1), 16132053 (1), 17905336 (1)
    About this table

    4 PharmGKB disease relationships for KCNQ1 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Cystic FibrosisFA  10646604
    Long QT SyndromeCO  PD  FA  GN  9386136 8900282 8900283 11799244 11997281
    Torsades de PointesCO  FA  GN  11997281
    congenital long QT syndromePD  FA  GN  12004990 20324596
    About this table

    GeneTests: KCNQ1
    Romano-Ward Syndrome

    Locus Specific Mutation Databases (LSDB): KCNQ1
    Human Gene Mutation Database (HGMD): KCNQ1
    Genetic Association Database (GAD): KCNQ1
    Human Genome Epidemiology (HuGE) Navigator: KCNQ1 (113 documents)

    Export disorders and mutations for KCNQ1 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/498 PubMed articles for KCNQ1 gene, integrated from 7 sources (see all 498):
    (articles sorted by number of sources associating them with KCNQ1)
    1. Allelic variants in long-QT disease genes in patients with drug- associated torsades de pointes. (PubMed id 11997281)1, 4, 5, 7 Yang P.... Roden D.M. (2002)
    2. KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. (PubMed id 9386136)1, 2, 5, 7 Donger C.... Guicheney P. (1997)
    3. Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. (PubMed id 8900283)1, 2, 5, 7 Sanguinetti M.C.... Keating M.T. (1996)
    4. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. (PubMed id 8528244)1, 2, 3, 7 Wang Q.... Keating M.T. (1996)
    5. A constitutively open potassium channel formed by KCNQ1 and KCNE3. (PubMed id 10646604)1, 2, 5 Schroeder B.C....Jentsch T.J. (2000)
    6. New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. (PubMed id 9570196)1, 2, 7 Li H.... Towbin J.A. (1998)
    7. Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. (PubMed id 9323054)1, 2, 7 Shalaby F.Y.... Blanar M.A. (1997)
    8. The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. (PubMed id 9272155)1, 2, 7 van den Berg M.H.... Geraedts J.P.M. (1997)
    9. Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart. (PubMed id 9305853)1, 2, 7 Jiang M.... Tseng G.-N. (1997)
    10. KCNQ1 gain-of-function mutation in familial atrial fibrillation. (PubMed id 12522251)1, 2, 7 Chen Y.-H....Huang W. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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)
    About This Section
    Entrez Gene: 3784 HGNC: 6294 AceView: KCNQ1 Ensembl:ENSG00000053918 euGenes: HUgn3784
    ECgene: KCNQ1 Kegg: 3784 H-InvDB: KCNQ1

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for KCNQ1 Genetics and Cytogenetics in Oncology and Haematology
    LQTSdbhttp://www.ssi.dk/en/forskning/lqtsdb/kvlqt1.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNQ1
    Wikipedia http://en.wikipedia.org/wiki/KvLQT1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for KCNQ1 gene:
    Search GeneIP for patents involving KCNQ1

    GeneCards and IP:
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