KCNE2 (potassium voltage-gated channel subfamily E regulatory subunit 2)

2011-01-01  

Identity

HGNC
KCNE2
LOCATION
21q22.11
LOCUSID
9992
ALIAS
ATFB4,LQT5,LQT6,MIRP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9992
MIM: 603796
HGNC: 6242
Ensembl: ENSG00000159197

Variants:

dbSNP: 9992
ClinVar: 9992
TCGA: ENSG00000159197
COSMIC: KCNE2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159197ENST00000290310Q9Y6J6

Expression (GTEx)

0
50
100
150
200
250
300
350
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
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
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

References

Pubmed IDYearTitleCitations
191986092009Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.460
209713642010A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.181
158404762005Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.177
197160852009Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.126
164149442005Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.119
172108392007Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.106
172108392007Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.106
153681942004Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.100
146616772003Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.86
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85

Citation

Dessen P

KCNE2 (potassium voltage-gated channel subfamily E regulatory subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2011-01-01

Online version: http://atlasgeneticsoncology.org/gene/51948/kcne2