Aliases &
Descriptions
for KCNQ1 gene
(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 | | |
Export aliases for KCNQ1 gene to outside databasesPrevious GC identifers: GC11P002527 GC11P002669 GC11P002425 GC11P002430 GC11P002422 GC11P002466 |
Summaries
for KCNQ1 gene(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 actionpotential. 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), Jervelland Lange-Nielsen syndrome and familial atrial fibrillation. The gene is located in a region of chromosome 11 thatcontains 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 cardiacmuscle. Alternatively spliced transcripts encoding distinct isoforms have been described. (provided by RefSeq)
UniProtKB/Swiss-Prot: KCNQ1_HUMAN, P51787Function: Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiacpotassium current. Elicits a rapidly activating, potassium-selective outward current. Muscarinic agonistoxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels werecoexpressed with M1 muscarinic receptors. May associate also with KCNE3 (MiRP2) to form the potassium channel that isimportant for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic fibrosis andpathologically 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) |
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 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: 11p15.5KCNQ1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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
|
Proteins
for KCNQ1 gene
(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 membraneprotein
Miscellaneous: Mutagenesis experiments were carried out by expressing in Xenopus oocytes or COS-7 cells KCNQ1 mutantseither 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 Q9UMN9Alternative 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
5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6): About this table
KCNQ1 for ontologies About GeneDecksing
Antibodies for KCNQ1:
Assays 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:Graphical View of Domain Structure for InterPro Entry P51787ProtoNet 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, P51787Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged aminoacids at every third positionSimilarity: Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily |
Gene Function
for KCNQ1 gene
(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, P51787Function: Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiacpotassium current. Elicits a rapidly activating, potassium-selective outward current. Muscarinic agonistoxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels werecoexpressed with M1 muscarinic receptors. May associate also with KCNE3 (MiRP2) to form the potassium channel that isimportant for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic fibrosis andpathologically 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 toform the slow delayed-rectifier IKS channel,paternally imprinted (centromeric imprinting domain at 11p15,containingTSSC3,TSSC5 and KCNQ1) in a tissue specific pattern with six isoforms,predominantly expressed in heart,also in striavascularis that secretes the endolymph,not expressed in skeletal muscle,may be disrupted in (some) Beckwith-Wiedemannsyndromes,see also LIT15/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7): About this table
KCNQ1 for ontologies About GeneDecksing
Animal Models: 8 MGI mutant phenotypes (inferred from 9 alleles ) (MGI details for Kcnq1):
KCNQ1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for KCNQ1 gene
(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
4  Kegg Pathways (Kegg details for KCNQ1):
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)About this table
5/13 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 13): About this table
KCNQ1 for ontologies About GeneDecksing
|
Drugs & Compounds
for KCNQ1 gene(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
Compounds for KCNQ1 available from Tocris Bioscience
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 geneAbout this table
|
Transcripts
for KCNQ1 gene(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
|
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)
|
Expression
for KCNQ1 gene
(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
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, P51787Tissue specificity: Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral bloodleukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries
SABiosciences Expression via Pathway-Focused PCR Array including KCNQ1: PAHS-036A
|
Orthologs
for KCNQ1 gene
(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
for KCNQ1 gene(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
|
Genomic Variants
for KCNQ1 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 11 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap 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 |
|
Disorders & Mutations
for KCNQ1 gene
(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-Wardsyndrome (RWS). Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG andpolymorphic 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 anautosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacksdue 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]. Atrialfibrillation is a common disorder of cardiac rhythm that is hereditary in a small subgroup of patients. It ischaracterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis inthe atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, andcongestive heart failure Defects in KCNQ1 are the cause of short QT syndrome type 2 (SQT2) [MIM:609621]. Short QT syndromes are heartdisorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structuralheart 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 geneAbout 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
|
Medical News
for KCNQ1 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for KCNQ1 gene (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)- 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)
- KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. (PubMed id 9386136)1, 2, 5, 7 Donger C.... Guicheney P. (1997)
- 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)
- 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)
- A constitutively open potassium channel formed by KCNQ1 and KCNE3. (PubMed id 10646604)1, 2, 5 Schroeder B.C....Jentsch T.J. (2000)
- New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. (PubMed id 9570196)1, 2, 7 Li H.... Towbin J.A. (1998)
- 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)
- 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)
- 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)
- KCNQ1 gain-of-function mutation in familial atrial fibrillation. (PubMed id 12522251)1, 2, 7 Chen Y.-H....Huang W. (2003)
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External Searches for KCNQ1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing KCNQ1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing KCNQ1 gene
(According to HUGE)
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Specialized Databases showing KCNQ1 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| ATLAS Chromosomes in Cancer entry for KCNQ1 | Genetics and Cytogenetics in Oncology and Haematology | | LQTSdb | http://www.ssi.dk/en/forskning/lqtsdb/kvlqt1.htm | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNQ1 | | Wikipedia | http://en.wikipedia.org/wiki/KvLQT1 |
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| Patent Information for KCNQ1 gene:
Search GeneIP for patents involving KCNQ1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for KCNQ1 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
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