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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNQ1 Gene

protein-coding   GIFtS: 73
GCID: GC11P002466

potassium voltage-gated channel, KQT-like subfamily, member...


(Previous symbols: LQT, KCNA9)
 Explore 40 diseases affiliated with
KCNQ1 via
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Biological research products
for KCNQ1    

Aliases
for KCNQ1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 5

Aliases
Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 11 2     ATFB32 5
KCNA91 2 3 5     SQT22 5
KVLQT11 2 3 5     ATFB12
KCNA81 2 3     Kv1.92
LQT11 2 5     RWS2
JLNS11 2     WRS2
Kv7.11 2     Kidney And Cardiac Voltage Dependend K+ Channel2
LQT1 2     Potassium Voltage-Gated Channel Subfamily KQT Member 12
Voltage-Gated Potassium Channel Subunit Kv7.12 3     Slow Delayed Rectifier Channel Subunit2
IKs Producing Slow Voltage-Gated Potassium Channel Subunit Alpha KvLQT12 3     KQT-Like 13

External Ids:    HGNC: 62941   Entrez Gene: 37842   Ensembl: ENSG000000539187   OMIM: 6075425   UniProtKB: P517873   
ORGUL members:    fRNAdb10:FR327372 FR090458 FR140374      
NCBI:AJ006345 AJ006345 AJ006345    
NONCODE:u1975 n411691 n2129    
RNAdb:LIT1624 LIT1625    

Export aliases for KCNQ1 gene to outside databases

Previous GC identifers: GC11P002527 GC11P002669 GC11P002425 GC11P002430 GC11P002422 GC11P002256


Summaries
for KCNQ1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
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 repolarization phase of the cardiac action potential.
This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this
gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen
syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential
expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a
region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and
itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced
transcript variants have been found for this gene. (provided by RefSeq, Aug 2011)

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)

fRNAdb sequence ontologies for KCNQ1 - the ORGUL cluster for this gene includes several descriptions:
transcript - An RNA synthesized on a DNA or RNA template by an RNA polymerase.
mature_transcript - A transcript which has undergone the necessary modifications, if any, for its function. In eukaryotes this includes, for example, processing of introns, cleavage, base modification, and modifications to the 5' and/or the 3' ends, other than addition of bases. In bacteria functional mRNAs are usually not modified.

Genomic Views
for KCNQ1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNQ1 gene promoter:
         Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KCNQ1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNQ1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat 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 information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P002466:  view genomic region     (about GC identifiers)

Start:
 2,465,914 bp from pter      End:
 2,870,340 bp from pter
Size:
 404,427 bases      Orientation:
 plus strand
ORGUL member locations:
Legend (see complete legend)

  • n411691
  • FR0140374
  • FR0090458
  • FR0327372
  • n2129
2482683 2676512 2870340 chr11

Proteins
for KCNQ1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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)
Sequence caution: Sequence=BAA34739.1; Type=Frameshift; Positions=129, 159;
3 PDB 3D structures from and Proteopedia for KCNQ1:
3BJ4 (3D)        3HFC (3D)        3HFE (3D)    
Secondary accessions: O00347 O60607 O94787 Q7Z6G9 Q92960 Q9UMN8 Q9UMN9
Alternative splicing: 2 isoforms:  P51787-1   P51787-2   (Truncated isoform that is non-functional alone but modulatory when coexpressed with the full-length isoform 1)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51787

    • KCNQ1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000434560   ENSP00000155840   ENSP00000334497   ENSP00000370153  
    Reactome Protein details: P51787
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate (see all 3): KCNQ1
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    Novus Biologicals KCNQ1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for KCNQ1

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA--
    GO:0005769early endosome IDA--
    GO:0005770late endosome IDA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane ----


    KCNQ1 for ontologies           About GeneDecksing



    KCNQ1 Antibody Products: 
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    Uscn ELISAs and CLIAs for KCNQ1

    Protein Domains /
    Families
    for KCNQ1 gene

    (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_dom
     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


    Function
    for KCNQ1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
    Products:            		miRTarBase miRNAs that target KCNQ1:
    hsa-mir-133a (MIRT002925)

    OriGene 3'-UTR Clone (see all 2): KCNQ1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KCNQ1
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate KCNQ1:
    hsa-miR-365 hsa-miR-146b-3p hsa-miR-874
    SwitchGear 3'UTR luciferase reporter plasmid: KCNQ1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KCNQ1 (see all 7)
    OriGene shRNA RFP: KCNQ1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KCNQ1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for KCNQ1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KCNQ1 (see all 4)
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005249voltage-gated potassium channel activity IDA17289006
    GO:0005251contributes to delayed rectifier potassium channel activity IDA8900283
    GO:0005267potassium channel activity ----
    GO:0005516calmodulin binding IEA--
    GO:0015271outward rectifier potassium channel activity IEA--


    KCNQ1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for KCNQ1: Kcnq1tm1Apf Kcnq1tm1Kpfe
         8 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Kcnq1):
     behavior/neurological  cardiovascular system  digestive/alimentary  growth/size  hearing/vestibular/ear 
     homeostasis/metabolism  nervous system  normal 

    KCNQ1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for KCNQ1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Potassium Channels
    		Potassium Channels1.00
    		Potassium transporters: outward current0.42
    		Voltage gated Potassium channels0.43
    2CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    		CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)1.00
    3Antiarrhythmic Pathway, Pharmacodynamics
    		Antiarrhythmic Pathway, Pharmacodynamics1.00
    4Celecoxib Pathway, Pharmacodynamics
    		Celecoxib Pathway, Pharmacodynamics1.00
    5SIDS Susceptibility Pathways
    		SIDS Susceptibility Pathways1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for KCNQ1
        Potassium transporters- outward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNQ1
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for KCNQ1
        CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

    2 BioSystems Pathways for KCNQ1 
        SIDS Susceptibility Pathways
    TNF-alpha/NF-kB Signaling Pathway

    3        Reactome Pathways for KCNQ1
        Potassium Channels
    Neuronal System
    Voltage gated Potassium channels

    2 PharmGKB Pathways for KCNQ1
        Antiarrhythmic Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics

    5         Kegg Pathways  (Kegg details for KCNQ1):
        Cholinergic synapse
    Gastric acid secretion
    Pancreatic secretion
    Protein digestion and absorption
    Vibrio cholerae infection


    KCNQ1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNQ1

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

    5/63 Interacting proteins for KCNQ1 (P517872, 3 ENSP000001558404) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRAF6Q9Y4K32, 3MINT-47934 MINT-49606 I2D: score=6 
    KCNE1P153822, 3, ENSP000003372554MINT-7297878 MINT-7297906 MINT-7297829 MINT-7297854 MINT-7297812 I2D: score=3 STRING: ENSP00000337255
    AKAP9Q999963, ENSP000003485734I2D: score=2 STRING: ENSP00000348573
    KCNE2Q9Y6J63, ENSP000002903104I2D: score=2 STRING: ENSP00000290310
    PPP1CAP621363, ENSP000003260314I2D: score=1 STRING: ENSP00000326031
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006349regulation of gene expression by genetic imprinting IEA--
    GO:0006813potassium ion transport ----
    GO:0006936muscle contraction TAS8528244
    GO:0007268synaptic transmission TAS--
    GO:0007605sensory perception of sound TAS9020846


    KCNQ1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KCNQ1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KCNQ1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KCNQ1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    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]

    2 HMDB Compounds for KCNQ1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    PotassiumK+ (see all 16)7440-09-7--

    2 DrugBank Compounds for KCNQ1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Bepridil-- 64706-54-3targetinhibitor14716203 9765513 10860024
    IndapamideIndapamida [INN-Spanish] (see all 2)26807-65-8targetinhibitor11351021 11804849 11752352

    10/27 Novoseek chemical compound relationships for KCNQ1 gene (see all 27)    About this table
    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)

    Search CenterWatch for drugs/clinical trials and news about KCNQ1 

    Transcripts
    for KCNQ1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for KCNQ1 gene (3 alternative transcripts): 
    NM_000218.2  NM_181797.1  NM_181798.1  

    Unigene Cluster for KCNQ1:

    Potassium voltage-gated channel, KQT-like subfamily, member 1
    Hs.95162  [show with all ESTs]
    Unigene Representative Sequence: BX640740
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496887 ENST00000155840(uc009ydo.1 uc001lwn.3 uc001lwo.3)
    ENST00000345015 ENST00000335475(uc009ydp.1) ENST00000380776 ENST00000526095


    miRNA
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    hsa-miR-365 hsa-miR-146b-3p hsa-miR-874
    SwitchGear 3'UTR luciferase reporter plasmid: KCNQ1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: KCNQ1
    OriGene siRNA: KCNQ1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KCNQ1
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCNQ1
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    Additional cDNA sequence: 

    AF000571.1 AF003743.1 AF051426.1 AJ006344.1 AK129678.1 AK226077.1 AK290618.1 BC017074.1 
    BC113545.1 BX640740.1 EF010934.1 EF010935.1 NR_040711.2 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):

    AI868916 NM_000218 BF512683 AW136422 NM_181797 AW205864 BF221828 BM821874 
    AW006385 AW090819 NM_181798 AI738525 AK129678 BM852160 AI344116 BC017074 
    AW138991 AU141948 AI769029 C01650 U86146 CR608266 AF003743 AI347525 

    GeneLoc Exon Structure


    Expression
    for KCNQ1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCNQ1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCAGGAGAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KCNQ1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyCap MesenchymeCap Mesenchyme CellsKidney
    KidneyS-shaped BodyKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Early cardiomyocytes (Differentiation of c...)
    Floating colonies of cardiomyocytes (Differentiation of c...)

    See KCNQ1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNQ1

    SOURCE GeneReport for Unigene cluster: Hs.95162

    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

        SABiosciences Expression via Pathway-Focused PCR Array including KCNQ1: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
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    Orthologs
    for KCNQ1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for KCNQ1 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves KCNQ11 potassium voltage-gated channel, KQT-like subfamily, more 72.57(n)
    81.83(a)    		   423090  XM_421022.3  XP_421022.3 
    lizard
    (Anolis carolinensis)    		 Reptilia KCNQ16
    --
    		 --
    		 87(a)
    74(a)
    		 1 ↔ 1
    possible ortholog
    		 1(69288215-69310680)
    GL343579.1(162805-181267)
    African clawed frog
    (Xenopus laevis)    		 Amphibia kcnq1-A2 potassium voltage-gated channel, KQT-like subfamily, more 78.14(n)    U71076.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii kcnq11 potassium voltage-gated channel, KQT-like subfamily, more 65.93(n)
    70.24(a)    		   557498  NM_001123242.2  NP_001116714.1 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 56(a)
    		 1 ↔ 1
    		 Group1.16(178105-207926)
    worm
    (Caenorhabditis elegans)    		 Secernentea kqt-31 , 3 Ion transport proteins3
    Protein KQT-31    		 50(a)
    (best of 3)3
    57.54(n)1
    59.7(a)1    		   II(13708393-13712637)3
    1916991  NM_064474.71  NP_496875.21 


    ENSEMBL Gene Tree for KCNQ1 (if available)
    TreeFam Gene Tree for KCNQ1 (if available) 

    Paralogs
    for KCNQ1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNQ1 gene
    KCNQ32  KCNQ52  KCNQ22  KCNQ42  
    5 SIMAP similar genes for KCNQ1 using alignment to 6 protein entries:     KCNQ1_HUMAN (see all proteins):
    KVLQT1-Iso5    KCNQ5    KCNQ4    KCNQ3    KCNQ2

    KCNQ1 for paralogs           About GeneDecksing



    Genomic Variants
    for KCNQ1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/8015 NCBI SNPs in KCNQ1 are shown (see all 8015)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs110240341,2
    		C,F,H,non-pathogenic5442705(+) TGTGCT/CGAGCC 2 -- int119Minor allele frequency- C:0.10NA NS EA EU 3395
    rs125776541,2
    		C,H,non-pathogenic5549465(+) ATGTGC/TGTGAA 2 -- int17Minor allele frequency- T:0.00NS EA WA EU 1889
    rs1200741901,2
    		Cpathogenic5433628(+) GATCGA/GCGCCC 3 D G mis10--------
    rs1200741891,2
    		Cpathogenic5433634(+) CAACAC/TGATCG 3 T M mis10--------
    rs172218541,2
    		Cpathogenic5433647(+) AGGATC/TGCGGC 3 R C mis1 ese31Minor allele frequency- T:0.00--640
    rs1200741851,2
    		Cpathogenic5435606(+) TGGTGA/C/TGCATC 5 S R C mis10--------
    rs1200741881,2
    		Cpathogenic5442736(+) TTGTGA/GCCAAG 3 T A mis10--------
    rs172155001,2
    		Cpathogenic5442757(+) TCATTC/G/TGACGC 5 R G * mis1 stg1 ese31--278
    rs1200741831,2
    		Cpathogenic5626320(+) CCAGGA/GGATTC 3 E G mis10--------
    rs127204591,2
    		C,F,Hpathogenic5627296(+) CTTTGA/C/G/T 
                GCTCC     		7 E A G V mis1 ese38NS EA 1324

    HapMap Linkage Disequilibrium report for KCNQ1 (2465914 - 2715914 bp, first 250kb of KCNQ1)
    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
    Human Gene Mutation Database (HGMD): KCNQ1

    Locus Specific Mutation Databases (LSDB): KCNQ1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for KCNQ1 gene

    (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.)
    About This Section
    KCNQ1 for disorders           About GeneDecksing

    OMIM gene information: 607542 604115    
    OMIM 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 familial atrial fibrillation 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

    20/40 diseases for KCNQ1 (see all 40):    About MalaCards
    jervell-lange nielsen syndrome    long qt syndrome 1    beckwith-wiedemann syndrome    long qt syndrome
    atrial fibrillation    familial atrial fibrillation    long qt syndrome 1, acquired    short qt syndrome 2
    subclavian steal syndrome    short qt syndrome    sudden infant death syndrome    heart block
    secretory diarrhea    congenital heart block    type 2 diabetes mellitus    cystic fibrosis
    diabetes mellitus    brugada syndrome    hearing loss    hyperparathyroidism

    6 diseases from the University of Copenhagen DISEASES database for KCNQ1:
    Long QT syndrome     Beckwith-Wiedemann syndrome     Congenital heart block     Timothy syndrome
    Heart disease     Sudden infant death syndrome

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

    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)

    GeneTests: KCNQ1
    Jervell and Lange-Nielsen Syndrome
    Romano-Ward Syndrome

    Genetic Association Database (GAD): KCNQ1
    Human Genome Epidemiology (HuGE) Navigator: KCNQ1 (129 documents)

    Export disorders for KCNQ1 gene to outside databases

    Publications
    for KCNQ1 gene

    (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

    PubMed articles for KCNQ1 gene, integrated from 9 sources (see all 566):
    (articles sorted by number of sources associating them with KCNQ1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. (PubMed id 8528244)1, 2, 3, 9 Wang Q.... Keating M.T. (1996)
    2. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. (PubMed id 15840476)1, 2, 4 Tester D.J....Ackerman M.J. (2005)
    3. New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. (PubMed id 9570196)1, 2, 9 Li H.... Towbin J.A. (1998)
    4. Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. (PubMed id 9323054)1, 2, 9 Shalaby F.Y.... Blanar M.A. (1997)
    5. The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. (PubMed id 9272155)1, 2, 9 van den Berg M.H.... Geraedts J.P.M. (1997)
    6. Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart. (PubMed id 9305853)1, 2, 9 Jiang M.... Tseng G.-N. (1997)
    7. Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. (PubMed id 8900283)1, 2, 9 Sanguinetti M.C.... Keating M.T. (1996)
    8. KCNQ1 gain-of-function mutation in familial atrial fibrillation. (PubMed id 12522251)1, 2, 9 Chen Y.-H....Huang W. (2003)
    9. Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. (PubMed id 14678125)1, 4, 9 Zareba W....Andrews M.L. (2003)
    10. Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias. (PubMed id 10090886)1, 2, 9 Mohammad-Panah R.... Escande D. (1999)

    External Searches for KCNQ1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing KCNQ1 gene

    (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

    Other Databases showing KCNQ1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KCNQ1 gene

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

    Intellectual Property
    for KCNQ1 gene

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

    GeneCards and IP:
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    About This Section

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