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

2015-06-01 Affiliation

Identity

HGNC

KCNE5

LOCATION

Xq23

LOCUSID

23630

ALIAS

KCNE1L

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: 23630
MIM: 300328
HGNC: 6241
Ensembl: ENSG00000176076

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000176076	ENST00000372101	Q9UJ90

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
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

References

Pubmed ID	Year	Title	Citations
30129429	2018	Case 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.	6
30129429	2018	Case 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.	6
21985337	2012	KCNE5 polymorphism rs697829 is associated with QT interval and survival in acute coronary syndromes patients.	7
21985337	2012	KCNE5 polymorphism rs697829 is associated with QT interval and survival in acute coronary syndromes patients.	7
21493962	2011	KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation.	55
21730298	2011	Novel expression and regulation of voltage-dependent potassium channels in placentas from women with preeclampsia.	23
21493962	2011	KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation.	55
21730298	2011	Novel expression and regulation of voltage-dependent potassium channels in placentas from women with preeclampsia.	23
18313602	2008	Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation.	45
18313602	2008	Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation.	45
18313602	2008	Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation.	45
18313602	2008	Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation.	45
16054468	2005	Relation of 97T polymorphism in KCNE5 to risk of atrial fibrillation.	23
16054468	2005	Relation of 97T polymorphism in KCNE5 to risk of atrial fibrillation.	23
15193977	2004	Does KCNE5 play a role in long QT syndrome?	6

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/haematological-explorer/