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

2008-07-01 Affiliation

Identity

HGNC

KCNH5

LOCATION

14q23.2

LOCUSID

27133

ALIAS

EAG2,H-EAG2,Kv10.2,hEAG2

FUSION GENES

Show Gene Fusions

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: 27133
MIM: 605716
HGNC: 6254
Ensembl: ENSG00000140015

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000140015	ENST00000322893	Q8NCM2
ENSG00000140015	ENST00000394968	Q8NCM2
ENSG00000140015	ENST00000420622	Q8NCM2

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
Neuronal System	REACTOME	R-HSA-112316
Potassium Channels	REACTOME	R-HSA-1296071
Voltage gated Potassium channels	REACTOME	R-HSA-1296072

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23647072	2013	Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.	86
18349282	2008	DNA methylation in tumor and matched normal tissues from non-small cell lung cancer patients.	71
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
19850283	2010	Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches.	27
26258683	2015	EAG2 potassium channel with evolutionarily conserved function as a brain tumor target.	23
12135768	2002	Molecular identification and characterisation of the human eag2 potassium channel.	21
19172261	2009	Roles of surface residues of intracellular domains of heag potassium channels.	13
20800603	2010	Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.	12
24133262	2013	Multistate structural modeling and voltage-clamp analysis of epilepsy/autism mutation Kv10.2-R327H demonstrate the role of this residue in stabilizing the channel closed state.	11
24759919	2014	Retrotransposon hypomethylation in melanoma and expression of a placenta-specific gene.	3

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/kcnh5-(potassium-voltage-gated-channel-subfamily-h-member-5)