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

2003-10-01 Affiliation

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

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000053918	ENST00000155840	P51787
ENSG00000053918	ENST00000335475	P51787
ENSG00000053918	ENST00000380776	F8W824
ENSG00000053918	ENST00000496887	E9PPZ0
ENSG00000053918	ENST00000526095	A0A2R8YDV1
ENSG00000053918	ENST00000646564	A0A2R8YEQ9

Expression (GTEx)

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

Pathway	Source	External ID
Vibrio cholerae infection	KEGG	ko05110
Vibrio cholerae infection	KEGG	hsa05110
Gastric acid secretion	KEGG	ko04971
Gastric acid secretion	KEGG	hsa04971
Pancreatic secretion	KEGG	ko04972
Pancreatic secretion	KEGG	hsa04972
Protein digestion and absorption	KEGG	ko04974
Protein digestion and absorption	KEGG	hsa04974
Cholinergic synapse	KEGG	hsa04725
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
Neuronal System	REACTOME	R-HSA-112316
Potassium Channels	REACTOME	R-HSA-1296071
Voltage gated Potassium channels	REACTOME	R-HSA-1296072
Muscle contraction	REACTOME	R-HSA-397014
Cardiac conduction	REACTOME	R-HSA-5576891
Phase 2 - plateau phase	REACTOME	R-HSA-5576893
Phase 3 - rapid repolarisation	REACTOME	R-HSA-5576890

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA159018367	Brugada syndrome	Disease	DataAnnotation	associated
PA165817016	Kidney Transplantation	Disease	ClinicalAnnotation	associated	PD	21355884
PA212	KCNH2	Gene	DataAnnotation	associated
PA304	SCN5A	Gene	DataAnnotation	associated
PA443890	Diabetes Mellitus, Type 2	Disease	ClinicalAnnotation	associated	PD	22414228
PA447184	Romano-Ward Syndrome	Disease	DataAnnotation	associated
PA448871	celecoxib	Chemical	Pathway	associated		22336956
PA451234	repaglinide	Chemical	ClinicalAnnotation	associated	PD	22414228
PA451578	tacrolimus	Chemical	ClinicalAnnotation	associated	PD	21355884

References

Pubmed ID	Year	Title	Citations
20581827	2010	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	787
11136691	2001	Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.	322
18711367	2008	Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.	289
18711367	2008	Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.	289
12522251	2003	KCNQ1 gain-of-function mutation in familial atrial fibrillation.	272
18711366	2008	SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.	271
18711366	2008	SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.	271
11799244	2002	Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel.	234
19305408	2009	Common variants at ten loci influence QT interval duration in the QTGEN Study.	190
15840476	2005	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.	177

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/kcnq1