KCNH7 (potassium voltage-gated channel subfamily H member 7)

2014-06-01  

Identity

HGNC
KCNH7
LOCATION
2q24.2
LOCUSID
90134
ALIAS
ERG3,HERG3,Kv11.3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 90134
MIM: 608169
HGNC: 18863
Ensembl: ENSG00000184611

Variants:

dbSNP: 90134
ClinVar: 90134
TCGA: ENSG00000184611
COSMIC: KCNH7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184611ENST00000328032Q9NS40
ENSG00000184611ENST00000332142Q9NS40
ENSG00000184611ENST00000618399A0A087WZQ1
ENSG00000184611ENST00000621889A0A087X077

Expression (GTEx)

0
1
2
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
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
159614042005Identification of the cyclic-nucleotide-binding domain as a conserved determinant of ion-channel cell-surface localization.34
182858332008IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk.19
182858332008IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk.19
249869162014A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.19
126349312003HERG K(+) currents in human prolactin-secreting adenoma cells.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
269428842016Activation of hERG3 channel stimulates autophagy and promotes cellular senescence in melanoma.11
191561662009IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients.2

Citation

Dessen P

KCNH7 (potassium voltage-gated channel subfamily H member 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/54005/kcnh7