KCNQ1 (potassium voltage-gated channel subfamily Q member 1)

2003-10-01  

Identity

HGNC
KCNQ1
LOCATION
11p15.5
LOCUSID
3784
ALIAS
ATFB1,ATFB3,JLNS1,KCNA8,KCNA9,KVLQT1,Kv1.9,Kv7.1,LQT,LQT1,RWS,SQT2,WRS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3784
MIM: 607542
HGNC: 6294
Ensembl: ENSG00000053918

Variants:

dbSNP: 3784
ClinVar: 3784
TCGA: ENSG00000053918
COSMIC: KCNQ1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000053918ENST00000155840P51787
ENSG00000053918ENST00000335475P51787
ENSG00000053918ENST00000380776F8W824
ENSG00000053918ENST00000496887E9PPZ0
ENSG00000053918ENST00000526095A0A2R8YDV1
ENSG00000053918ENST00000646564A0A2R8YEQ9

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vibrio cholerae infectionKEGGko05110
Vibrio cholerae infectionKEGGhsa05110
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Cholinergic synapseKEGGhsa04725
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 2 - plateau phaseREACTOMER-HSA-5576893
Phase 3 - rapid repolarisationREACTOMER-HSA-5576890

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA159018367Brugada syndromeDiseaseDataAnnotationassociated
PA165817016Kidney TransplantationDiseaseClinicalAnnotationassociatedPD21355884
PA212KCNH2GeneDataAnnotationassociated
PA304SCN5AGeneDataAnnotationassociated
PA443890Diabetes Mellitus, Type 2DiseaseClinicalAnnotationassociatedPD22414228
PA447184Romano-Ward SyndromeDiseaseDataAnnotationassociated
PA448871celecoxibChemicalPathwayassociated22336956
PA451234repaglinideChemicalClinicalAnnotationassociatedPD22414228
PA451578tacrolimusChemicalClinicalAnnotationassociatedPD21355884

References

Pubmed IDYearTitleCitations
382560282024KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation.0
383678912024Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants.0
386574422024A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein.0
388259912024Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients.0
382560282024KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation.0
383678912024Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants.0
386574422024A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein.0
388259912024Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients.0
366748682023Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.1
367211962023Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.2
369218522023KCNQ1 rs2237892 polymorphism modify the association between short-term ambient particulate matter exposure and fasting blood glucose: A family-based study.2
370315922023The role of native cysteine residues in the oligomerization of KCNQ1 channels.0
372507172023Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate genes for diabetic nephropathy using bioinformatics analysis.3
375680942023Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome.0
366748682023Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.1

Citation

Dessen P

KCNQ1 (potassium voltage-gated channel subfamily Q member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/gene/41051