KCNK17 (potassium two pore domain channel subfamily K member 17)

2014-08-01  

Identity

HGNC
KCNK17
LOCATION
6p21.2
LOCUSID
89822
ALIAS
K2p17.1,TALK-2,TALK2,TASK-4,TASK4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 89822
MIM: 607370
HGNC: 14465
Ensembl: ENSG00000124780

Variants:

dbSNP: 89822
ClinVar: 89822
TCGA: ENSG00000124780
COSMIC: KCNK17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124780ENST00000373231Q96T54
ENSG00000124780ENST00000453413Q96T54

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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 alkaline pH activated K+ channel (TALK)REACTOMER-HSA-1299361
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
294317312018Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.31
294317312018Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.31
290166812017Heterodimerization of two pore domain K+ channel TASK1 and TALK2 in living heterologous expression systems.7
290166812017Heterodimerization of two pore domain K+ channel TASK1 and TALK2 in living heterologous expression systems.7
249729292014Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.25
251791302014Association of variants in KCNK17 gene with ischemic stroke and cerebral hemorrhage in a Chinese population.6
249729292014Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.25
251791302014Association of variants in KCNK17 gene with ischemic stroke and cerebral hemorrhage in a Chinese population.6
233917552013The rs10947803 SNP of KCNK17 is associated with cerebral hemorrhage but not ischemic stroke in a Chinese population.5
233917552013The rs10947803 SNP of KCNK17 is associated with cerebral hemorrhage but not ischemic stroke in a Chinese population.5
196472522010KCNK17 genetic variants in ischemic stroke.8
199105432010Confirmation of genomewide association signals in Chinese Han population reveals risk loci for ischemic stroke.7
196472522010KCNK17 genetic variants in ischemic stroke.8
199105432010Confirmation of genomewide association signals in Chinese Han population reveals risk loci for ischemic stroke.7

Citation

Dessen P

KCNK17 (potassium two pore domain channel subfamily K member 17)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54393/kcnk17-(potassium-two-pore-domain-channel-subfamily-k-member-17)