KCNE5 (potassium voltage-gated channel subfamily E regulatory subunit 5)

2015-06-01  

Identity

HGNC
KCNE5
LOCATION
Xq23
LOCUSID
23630
ALIAS
KCNE1L

Other Information

Locus ID:

NCBI: 23630
MIM: 300328
HGNC: 6241
Ensembl: ENSG00000176076

Variants:

dbSNP: 23630
ClinVar: 23630
TCGA: ENSG00000176076
COSMIC: KCNE5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176076ENST00000372101Q9UJ90

Expression (GTEx)

0
5
10
15
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
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 2 - plateau phaseREACTOMER-HSA-5576893
Phase 3 - rapid repolarisationREACTOMER-HSA-5576890

References

Pubmed IDYearTitleCitations
214939622011KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation.42
183136022008Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation.40
183136022008Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation.40
160544682005Relation of 97T polymorphism in KCNE5 to risk of atrial fibrillation.19
217302982011Novel expression and regulation of voltage-dependent potassium channels in placentas from women with preeclampsia.13
151939772004Does KCNE5 play a role in long QT syndrome?6
219853372012KCNE5 polymorphism rs697829 is associated with QT interval and survival in acute coronary syndromes patients.4
301294292018Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.1

Citation

Dessen P

KCNE5 (potassium voltage-gated channel subfamily E regulatory subunit 5)

Atlas Genet Cytogenet Oncol Haematol. 2015-06-01

Online version: http://atlasgeneticsoncology.org/gene/77664/kcne5