KCNH5 (potassium voltage-gated channel subfamily H member 5)

2008-07-01  

Identity

HGNC
KCNH5
LOCATION
14q23.2
LOCUSID
27133
ALIAS
EAG2,H-EAG2,Kv10.2,hEAG2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27133
MIM: 605716
HGNC: 6254
Ensembl: ENSG00000140015

Variants:

dbSNP: 27133
ClinVar: 27133
TCGA: ENSG00000140015
COSMIC: KCNH5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140015ENST00000322893Q8NCM2
ENSG00000140015ENST00000394968Q8NCM2
ENSG00000140015ENST00000420622Q8NCM2

Expression (GTEx)

0
1
2
3
4
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
363072262023Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.5
369286542023Mechanism underlying delayed rectifying in human voltage-mediated activation Eag2 channel.2
363072262023Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.5
369286542023Mechanism underlying delayed rectifying in human voltage-mediated activation Eag2 channel.2
360686142022A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism.0
360686142022A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism.0
338334192021Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population.6
338334192021Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population.6
320974632020Chloride intracellular channel 1 cooperates with potassium channel EAG2 to promote medulloblastoma growth.15
320974632020Chloride intracellular channel 1 cooperates with potassium channel EAG2 to promote medulloblastoma growth.15
255421812015A sustained increase in the intracellular Ca²⁺ concentration induces proteolytic cleavage of EAG2 channel.1
262586832015EAG2 potassium channel with evolutionarily conserved function as a brain tumor target.40
255421812015A sustained increase in the intracellular Ca²⁺ concentration induces proteolytic cleavage of EAG2 channel.1
262586832015EAG2 potassium channel with evolutionarily conserved function as a brain tumor target.40
247599192014Retrotransposon hypomethylation in melanoma and expression of a placenta-specific gene.4

Citation

Dessen P

KCNH5 (potassium voltage-gated channel subfamily H member 5)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50268/gene-fusions/favicon/js/_common.js