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Aliases for KCNQ1 Gene

Aliases for KCNQ1 Gene

  • Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 1 2 3
  • IKs Producing Slow Voltage-Gated Potassium Channel Subunit Alpha KvLQT1 3 4
  • Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 1 2 3
  • Voltage-Gated Potassium Channel Subunit Kv7.1 3 4
  • KVLQT1 3 4
  • KCNA8 3 4
  • KCNA9 3 4
  • Kidney And Cardiac Voltage Dependend K+ Channel 3
  • Slow Delayed Rectifier Channel Subunit 3
  • Jervell And Lange-Nielsen Syndrome 1 2
  • KQT-Like 1 4
  • ATFB1 3
  • ATFB3 3
  • JLNS1 3
  • Kv1.9 3
  • Kv7.1 3
  • LQT1 3
  • SQT2 3
  • WRS 3
  • RWS 3
  • LQT 3

External Ids for KCNQ1 Gene

Previous HGNC Symbols for KCNQ1 Gene

  • LQT
  • KCNA9

Previous GeneCards Identifiers for KCNQ1 Gene

  • GC11P002527
  • GC11P002669
  • GC11P002425
  • GC11P002430
  • GC11P002422
  • GC11P002466
  • GC11P002256

Summaries for KCNQ1 Gene

Entrez Gene Summary for KCNQ1 Gene

  • 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]

GeneCards Summary for KCNQ1 Gene

KCNQ1 (Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 1) is a Protein Coding gene. Diseases associated with KCNQ1 include atrial fibrillation and jervell and lange-nielsen syndrome. Among its related pathways are SIDS Susceptibility Pathways and Transmission across Chemical Synapses. GO annotations related to this gene include calmodulin binding and ion channel binding. An important paralog of this gene is KCNQ4.

UniProtKB/Swiss-Prot for KCNQ1 Gene

  • 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

Tocris Summary for KCNQ1 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNQ1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNQ1 Gene

Genomics for KCNQ1 Gene

Regulatory Elements for KCNQ1 Gene

Transcription factor binding sites by QIAGEN in the KCNQ1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KCNQ1 Gene

Chromosome:
11
Start:
2,444,684 bp from pter
End:
2,849,110 bp from pter
Size:
404,427 bases
Orientation:
Plus strand

Genomic View for KCNQ1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNQ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNQ1 Gene

Proteins for KCNQ1 Gene

  • Protein details for KCNQ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51787-KCNQ1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily KQT member 1
    Protein Accession:
    P51787
    Secondary Accessions:
    • O00347
    • O60607
    • O94787
    • Q14D14
    • Q7Z6G9
    • Q92960
    • Q9UMN8
    • Q9UMN9

    Protein attributes for KCNQ1 Gene

    Size:
    676 amino acids
    Molecular mass:
    74699 Da
    Quaternary structure:
    • Heterotetramer with KCNE1 (MinK) or KCNE3 (MiRP2). Interacts with CALM (PubMed:18165683). Interacts with KCNE5 (PubMed:12324418).
    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)
    SequenceCaution:
    • Sequence=BAA34739.1; Type=Frameshift; Positions=129, 159; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KCNQ1 Gene

    Alternative splice isoforms for KCNQ1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNQ1 Gene

Proteomics data for KCNQ1 Gene at MOPED

Post-translational modifications for KCNQ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNQ1 Gene

Antibody Products

No data available for DME Specific Peptides for KCNQ1 Gene

Domains & Families for KCNQ1 Gene

Gene Families for KCNQ1 Gene

Graphical View of Domain Structure for InterPro Entry

P51787

UniProtKB/Swiss-Prot:

KCNQ1_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position
  • Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily.
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position
  • The coiled-coil domain mediates tetramerization
Family:
  • Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily.
genes like me logo Genes that share domains with KCNQ1: view

Function for KCNQ1 Gene

Molecular function for KCNQ1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for KCNQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005249 contributes_to voltage-gated potassium channel activity IDA 16002409
GO:0005251 contributes_to delayed rectifier potassium channel activity IDA 8900283
GO:0005515 protein binding IPI 19521339
GO:0005516 calmodulin binding IDA 18165683
genes like me logo Genes that share ontologies with KCNQ1: view
genes like me logo Genes that share phenotypes with KCNQ1: view

Animal Models for KCNQ1 Gene

MGI Knock Outs for KCNQ1:

Animal Model Products

miRNA for KCNQ1 Gene

miRTarBase miRNAs that target KCNQ1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNQ1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNQ1 Gene

Localization for KCNQ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNQ1 Gene

Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNQ1 Gene COMPARTMENTS Subcellular localization image for KCNQ1 gene
Compartment Confidence
endosome 4
lysosome 4
plasma membrane 4
vacuole 4
endoplasmic reticulum 2
cytosol 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KCNQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 21957902
GO:0005769 early endosome IDA 21957902
GO:0005770 late endosome IDA 21957902
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IDA 16002409
genes like me logo Genes that share ontologies with KCNQ1: view

Pathways & Interactions for KCNQ1 Gene

genes like me logo Genes that share pathways with KCNQ1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for KCNQ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0006349 regulation of gene expression by genetic imprinting IEA --
GO:0006811 ion transport --
GO:0007268 synaptic transmission TAS --
GO:0007605 sensory perception of sound TAS 9020846
genes like me logo Genes that share ontologies with KCNQ1: view

No data available for SIGNOR curated interactions for KCNQ1 Gene

Drugs & Compounds for KCNQ1 Gene

(40) Drugs for KCNQ1 Gene - From: NovoSeek, IUPHAR, DGIdb, Tocris, DrugBank, HMDB, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bepridil Approved, Withdrawn Pharma Pore Blocker, blocker, Target, inhibitor 0
Indapamide Approved Pharma blocker, Target, inhibitor 18
Mefenamic acid Approved Pharma Channel blocker, inhibitor Anti-inflammatory agent 6
Niflumic Acid Approved Pharma Channel blocker, inhibitor Ca2+-activated Cl- channel blocker 0
Repaglinide Approved, Investigational Pharma Kir6 (KATP) channel blocker 48

(11) Additional Compounds for KCNQ1 Gene - From: NovoSeek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
Kaliotoxin
145199-73-1
L-364,373
103342-82-1
PD 118057
313674-97-4
86Rb
genes like me logo Genes that share compounds with KCNQ1: view

Transcripts for KCNQ1 Gene

Unigene Clusters for KCNQ1 Gene

Potassium voltage-gated channel, KQT-like subfamily, member 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNQ1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNQ1 Gene

No ASD Table

Relevant External Links for KCNQ1 Gene

GeneLoc Exon Structure for
KCNQ1
ECgene alternative splicing isoforms for
KCNQ1

Expression for KCNQ1 Gene

mRNA expression in normal human tissues for KCNQ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNQ1 Gene

This gene is overexpressed in Adrenal Gland (x14.9), Stomach (x7.3), and Pancreas (x5.1).

Protein differential expression in normal tissues from HIPED for KCNQ1 Gene

This gene is overexpressed in Adrenal (65.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNQ1 Gene



SOURCE GeneReport for Unigene cluster for KCNQ1 Gene Hs.95162

mRNA Expression by UniProt/SwissProt for KCNQ1 Gene

P51787-KCNQ1_HUMAN
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
genes like me logo Genes that share expression patterns with KCNQ1: view

Protein tissue co-expression partners for KCNQ1 Gene

Primer Products

In Situ Assay Products

Orthologs for KCNQ1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNQ1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNQ1 35
  • 87.34 (n)
  • 90.43 (a)
KCNQ1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNQ1 35
  • 89.26 (n)
  • 92.08 (a)
KCNQ1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnq1 35
  • 84.31 (n)
  • 88.54 (a)
Kcnq1 16
Kcnq1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNQ1 35
  • 96.19 (n)
  • 95.39 (a)
rat
(Rattus norvegicus)
Mammalia Kcnq1 35
  • 84.54 (n)
  • 89.76 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNQ1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNQ1 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNQ1 35
  • 72.29 (n)
  • 80.85 (a)
KCNQ1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNQ1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnq1 35
  • 70.4 (n)
  • 80.21 (a)
African clawed frog
(Xenopus laevis)
Amphibia kcnq1-A 35
zebrafish
(Danio rerio)
Actinopterygii kcnq1 35
  • 65.65 (n)
  • 70.02 (a)
kcnq1 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta KCNQ 36
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea kqt-1 37
  • 42 (a)
kqt-2 37
  • 30 (a)
kqt-3 37
  • 50 (a)
kqt-3 35
  • 58.82 (n)
  • 60.48 (a)
kqt-3 36
  • 52 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToOne
Species with no ortholog for KCNQ1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNQ1 Gene

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

Paralogs for KCNQ1 Gene

Paralogs for KCNQ1 Gene

(5) SIMAP similar genes for KCNQ1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with KCNQ1: view

Variants for KCNQ1 Gene

Sequence variations from dbSNP and Humsavar for KCNQ1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs78131 -- 2,706,287(-) CCCCA(A/G)AATCA intron-variant
rs84178 -- 2,753,144(-) GCTCC(C/T)CGCAA intron-variant
rs86392 -- 2,705,955(+) AGAGT(C/T)ATTGG intron-variant
rs108961 -- 2,736,755(-) CAGCC(A/G)CATAC intron-variant
rs112529 -- 2,521,864(+) ACTCA(G/T)GGGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNQ1 Gene

Variant ID Type Subtype PubMed ID
nsv896806 CNV Loss 21882294
nsv469928 CNV Loss 18288195
dgv1000n71 CNV Loss 21882294
nsv896811 CNV Loss 21882294
nsv896821 CNV Loss 21882294
nsv896822 CNV Loss 21882294
nsv896823 CNV Gain 21882294
nsv896824 CNV Loss 21882294
nsv509383 CNV Insertion 20534489
nsv525578 CNV Gain 19592680
dgv1001n71 CNV Loss 21882294
nsv469929 CNV Loss 18288195
nsv896827 CNV Loss 21882294
dgv1002n71 CNV Loss 21882294
nsv896829 CNV Loss 21882294
esv2744009 CNV Deletion 23290073
esv2664758 CNV Deletion 23128226
esv29429 CNV Loss 19812545
nsv39120 CNV Loss 16902084
dgv1003n71 CNV Loss 21882294
nsv896833 CNV Loss 21882294
nsv517065 CNV Gain 19592680
esv2744010 CNV Deletion 23290073
esv1004234 CNV Insertion 20482838
esv991030 CNV Deletion 20482838
dgv1004n71 CNV Loss 21882294
nsv467652 CNV Loss 19166990
esv2744011 CNV Deletion 23290073
nsv896837 CNV Loss 21882294
nsv896838 CNV Loss 21882294
nsv896839 CNV Loss 21882294
nsv896840 CNV Loss 21882294
nsv7647 CNV Insertion 18451855
nsv525453 CNV Loss 19592680
nsv526036 CNV Loss 19592680
dgv333e1 CNV Complex 17122850
nsv896841 CNV Loss 21882294
nsv896842 CNV Loss 21882294
nsv896843 CNV Loss 21882294
nsv896844 CNV Loss 21882294
dgv1005n71 CNV Loss 21882294
dgv1006n71 CNV Loss 21882294
nsv469930 CNV Loss 18288195
nsv8764 CNV Gain 18304495
dgv1007n71 CNV Loss 21882294
esv2744012 CNV Deletion 23290073

Variation tolerance for KCNQ1 Gene

Residual Variation Intolerance Score: 9.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.49; 43.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNQ1 Gene

HapMap Linkage Disequilibrium report
KCNQ1
Human Gene Mutation Database (HGMD)
KCNQ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNQ1 Gene

Disorders for KCNQ1 Gene

MalaCards: The human disease database

(26) MalaCards diseases for KCNQ1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
atrial fibrillation
  • a-fib
jervell and lange-nielsen syndrome
  • jervell-lange nielsen syndrome
short qt syndrome
  • sqts
familial atrial fibrillation
  • atrial fibrillation, familial, 1
long qt syndrome 1
  • long qt syndrome 1, acquired
- elite association
Search KCNQ1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNQ1_HUMAN
  • Atrial fibrillation, familial, 3 (ATFB3) [MIM:607554]: An autosomal dominant form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation 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. {ECO:0000269 PubMed:12522251}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:18711366, ECO:0000269 PubMed:18711367, ECO:0000269 PubMed:24390345}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]: 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. {ECO:0000269 PubMed:10090886, ECO:0000269 PubMed:10728423, ECO:0000269 PubMed:9781056}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Long QT syndrome 1 (LQT1) [MIM:192500]: A heart disorder 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, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:10024302, ECO:0000269 PubMed:10220144, ECO:0000269 PubMed:10220146, ECO:0000269 PubMed:10367071, ECO:0000269 PubMed:10482963, ECO:0000269 PubMed:10728423, ECO:0000269 PubMed:10973849, ECO:0000269 PubMed:15840476, ECO:0000269 PubMed:19540844, ECO:0000269 PubMed:21241800, ECO:0000269 PubMed:8528244, ECO:0000269 PubMed:8818942, ECO:0000269 PubMed:8872472, ECO:0000269 PubMed:9024139, ECO:0000269 PubMed:9272155, ECO:0000269 PubMed:9302275, ECO:0000269 PubMed:9386136, ECO:0000269 PubMed:9482580, ECO:0000269 PubMed:9570196, ECO:0000269 PubMed:9641694, ECO:0000269 PubMed:9693036, ECO:0000269 PubMed:9702906, ECO:0000269 PubMed:9799083, ECO:0000269 PubMed:9927399, ECO:0000269 Ref.22}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Short QT syndrome 2 (SQT2) [MIM:609621]: A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. {ECO:0000269 PubMed:15159330}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNQ1

Genetic Association Database (GAD)
KCNQ1
Human Genome Epidemiology (HuGE) Navigator
KCNQ1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNQ1
genes like me logo Genes that share disorders with KCNQ1: view

No data available for Genatlas for KCNQ1 Gene

Publications for KCNQ1 Gene

  1. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. (PMID: 8528244) Wang Q. … Keating M.T. (Nat. Genet. 1996) 2 23 67
  2. A single nucleotide polymorphism in KCNQ1 is associated with susceptibility to diabetic nephropathy in japanese subjects with type 2 diabetes. (PMID: 20056949) Ohshige T. … Maeda S. (Diabetes Care 2010) 23 67
  3. Identification of a protein-protein interaction between KCNE1 and the activation gate machinery of KCNQ1. (PMID: 20479109) Lvov A. … Kobertz W.R. (J. Gen. Physiol. 2010) 23 67
  4. Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1. (PMID: 19540844) Thomas D. … Zehelein J. (J. Mol. Cell. Cardiol. 2010) 23 67
  5. Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. (PMID: 19646991) Abraham R.L. … Darbar D. (J. Mol. Cell. Cardiol. 2010) 23 67

Products for KCNQ1 Gene

Sources for KCNQ1 Gene

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