KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1)

2007-02-01 Affiliation

Identity

HGNC

KCNE1

LOCATION

21q22.12

LOCUSID

3753

ALIAS

ISK,JLNS,JLNS2,LQT2/5,LQT5,MinK

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: 3753
MIM: 176261
HGNC: 6240
Ensembl: ENSG00000180509

Variants:

dbSNP: 3753
ClinVar: 3753
TCGA: ENSG00000180509
COSMIC: KCNE1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000180509	ENST00000337385	P15382
ENSG00000180509	ENST00000337385	C7S316
ENSG00000180509	ENST00000399284	P15382
ENSG00000180509	ENST00000399284	C7S316
ENSG00000180509	ENST00000399286	P15382
ENSG00000180509	ENST00000399286	C7S316
ENSG00000180509	ENST00000399289	P15382
ENSG00000180509	ENST00000399289	C7S316
ENSG00000180509	ENST00000416357	P15382
ENSG00000180509	ENST00000416357	C7S316
ENSG00000180509	ENST00000432085	P15382
ENSG00000180509	ENST00000432085	C7S316
ENSG00000180509	ENST00000611936	P15382
ENSG00000180509	ENST00000611936	C7S316
ENSG00000180509	ENST00000621601	P15382
ENSG00000180509	ENST00000621601	C7S316

Expression (GTEx)

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
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
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

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA151249535	diuretics	Chemical	ClinicalAnnotation	associated	PD
PA164712406	Antibiotics	Chemical	ClinicalAnnotation	associated	PD
PA447300	Acquired Long QT Syndrome (aLQTS)	Disease	Literature, MultilinkAnnotation	associated		24561134
PA448383	amiodarone	Chemical	ClinicalAnnotation	associated	PD
PA451209	quinidine	Chemical	ClinicalAnnotation	associated	PD
PA451457	sotalol	Chemical	ClinicalAnnotation	associated	PD
PA452233	antipsychotics	Chemical	ClinicalAnnotation	associated	PD

References

Pubmed ID	Year	Title	Citations
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
19716085	2009	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.	126
16414944	2005	Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.	119
17210839	2007	Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.	106
17210839	2007	Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.	106
18611041	2008	Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel.	102
14661677	2003	Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.	86
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85

Citation

Dessen P

KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46537/kcne1