KCNK18 (potassium two pore domain channel subfamily K member 18)

2013-07-01  

Identity

HGNC
KCNK18
LOCATION
10q25.3
LOCUSID
338567
ALIAS
K2p18.1,MGR13,TRESK,TRESK-2,TRESK2,TRIK

Other Information

Locus ID:

NCBI: 338567
MIM: 613655
HGNC: 19439
Ensembl: ENSG00000186795

Variants:

dbSNP: 338567
ClinVar: 338567
TCGA: ENSG00000186795
COSMIC: KCNK18

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186795ENST00000334549Q7Z418

Expression (GTEx)

0
1
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
Tandem pore domain potassium channelsREACTOMER-HSA-1296346
TWIK-related spinal cord K+ channel (TRESK)REACTOMER-HSA-1299344
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 4 - resting membrane potentialREACTOMER-HSA-5576886

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
267470842016Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes.3
127542592003A novel two-pore domain K+ channel, TRESK, is localized in the spinal cord.0
149810852004The two-pore domain K+ channel, TRESK, is activated by the cytoplasmic calcium signal through calcineurin.0
151236702004Functional expression of TRESK-2, a new member of the tandem-pore K+ channel family.0
183978862008Phosphorylation-dependent binding of 14-3-3 proteins controls TRESK regulation.0
185064762008TRESK-like potassium channels in leukemic T cells.0
200065802010N-linked glycosylation determines cell surface expression of two-pore-domain K+ channel TRESK.0
208716112010A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.0

Citation

Dessen P

KCNK18 (potassium two pore domain channel subfamily K member 18)

Atlas Genet Cytogenet Oncol Haematol. 2013-07-01

Online version: http://atlasgeneticsoncology.org/gene/53435/kcnk18