Property Summary

NCBI Gene PubMed Count 471
Grant Count 362
R01 Count 243
Funding $53,753,610.09
PubMed Score 876.73
PubTator Score 891.02

Knowledge Summary

Patent (28,227)

Expression

  Differential Expression (6)

Disease log2 FC p
esophageal adenocarcinoma 1.500 0.023
adrenocortical carcinoma -2.725 0.000
tuberculosis 1.400 0.000
primary pancreatic ductal adenocarcinoma -1.189 0.014
lung adenocarcinoma -1.300 0.001
gastric carcinoma -1.200 0.011

Synonym

Accession P51787 O00347 O60607 O94787 Q14D14 Q7Z6G9 Q92960 Q9UMN8 Q9UMN9
Symbols LQT
RWS
WRS
LQT1
SQT2
ATFB1
ATFB3
JLNS1
KCNA8
KCNA9
Kv1.9
Kv7.1
KVLQT1

Gene

PDB

3BJ4   3HFC   3HFE   4UMO   4V0C  

MLP Assay (22)

AID Type Active / Inconclusive / Inactive Description
2283 screening 331 / 0 / 858 Specificity screen against KCNQ1 for compounds that potentiate KCNQ2 potassium channels
2415 screening 1 / 0 / 0 Mode of Action - subtype specificity assay for ztz240, a potentiator of KCNQ2 potassium channels
2642 screening 3880 / 0 / 301799 Primary cell-based high-throughput screening assay for identification of compounds that inhibit KCNQ1 potassium channels
2648 screening 1082 / 0 / 304597 Primary cell-based high-throughput screening assay for identification of compounds that potentiate/activate KCNQ1 potassium channels
2697 summary 0 / 0 / 0 Summary of assays for compounds that inhibit KCNQ1 potassium channels
2699 summary 0 / 0 / 0 Summary of assays for compounds that potentiate/activate KCNQ1 potassium channels
493006 screening 757 / 0 / 1678 Counter screen assay of the parental CHO cells for identification of compounds that potentiate KCNQ1 potassium channels
493007 screening 1024 / 0 / 1411 Validation assay for identification of compounds that potentiate KCNQ1 potassium channels
493026 screening 149 / 0 / 854 Specificity screen against KCNQ1 for compounds that inhibit KCNQ2 potassium channels
493042 confirmatory 2 / 0 / 3 Mode of action assay-Dose response assay for the identification of selective activators of KCNQ2 potassium channels in the KCNQ1/KCNE1 expressing cells on automated patch clamp
More...

Gene RIF (427)

PMID Text
26718405 KCNQ1/KCNE3 channels make only a small contribution to basolateral conductance in normal colonic crypts, with increased channel activity in UC appearing insufficient to prevent colonic cell depolarization in this disease.
26678516 KCNQ1 is associated with an increased risk for T2 diabetes mellitus(T2DM) and might contribute to the higher incidence of hypertension and macrovascular complications in patients with T2DM carrying the risk allele C.
26668384 Data show that voltage-gated potassium channel KCNE3 directly affects the S4 movement in potassium channel KCNQ1.
26540651 a novel association between rs2283171 of KCNQ1 and T2D in the Uyghur population.
26496715 Mutational screening identified 104 mutations (44% novel), i.e. 46 KCNQ1, 54 KCNH2 and 4 SCN5A mutations for long QT syndrome in China.
26385840 After screening, we identified G643S as a putative causative heterozygous mutation in the KCNQ1 gene. This mutation has been reported in abnormalities consistent with sudden unexplained death syndrome.
26366551 Data indicate the growth hormone binding protein (GHR) and KCNQ1 potassium channel variants with large effects on stature.
26334569 In patients with genotype-positive Long QT syndrome, significant differences exist in the degree of daytime and nocturnal QTc prolongation.
26318259 Stop-codon mutations are associated with a lower risk of cardiac events in patients with QT syndrome type 1, while frameshift mutations are associated with the same risk as the majority of the missense mutations.
26238466 This study showed that KCNQ1 methylation was associated with insulin resistance after weight loss intervention program in obese stroke.
More...

AA Sequence

MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPGPAPPASPAAP      1 - 70
AAPPVASDLGPRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFS     71 - 140
VLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASM    141 - 210
VVLCVGSKGQVFATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFV    211 - 280
YLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSG    281 - 350
FALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKK    351 - 420
KKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLD    421 - 490
LEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQ    491 - 560
RRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGP    561 - 630
PREGGAHITQPCGSGGSVDPELFLPSNTLPTYEQLTVPRRGPDEGS                            631 - 676
//

Text Mined References (473)

PMID Year Title
26718405 2016 Upregulation of basolateral small conductance potassium channels (KCNQ1/KCNE3) in ulcerative colitis.
26678516 2015 Variant rs2237892 of KCNQ1 Is Potentially Associated with Hypertension and Macrovascular Complications in Type 2 Diabetes Mellitus in A Chinese Han Population.
26668384 2015 KCNE3 acts by promoting voltage sensor activation in KCNQ1.
26540651 2015 Association Between KCNQ1 Genetic Variants and Type 2 Diabetes in the Uyghur Population.
26503718 2015 Bimodal regulation of an Elk subfamily K+ channel by phosphatidylinositol 4,5-bisphosphate.
26496715 2016 Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction.
26385840 2015 Using whole exome sequencing and bioformatics in the molecular autopsy of a sudden unexplained death syndrome (SUDS) case.
26366551 2015 Height-reducing variants and selection for short stature in Sardinia.
26334569 2016 "QT clock" to improve detection of QT prolongation in long QT syndrome patients.
26318259 2016 Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.
More...