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

2013-07-01  

Identity

HGNC
LOCATION
10q25.3
LOCUSID
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

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

References

Pubmed IDYearTitleCitations
371953402023Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus.1
371953402023Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus.1
335259042021TRESK background potassium channel modifies the TRPV1-mediated nociceptor excitability in sensory neurons.3
341997592021KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.2
335259042021TRESK background potassium channel modifies the TRPV1-mediated nociceptor excitability in sensory neurons.3
341997592021KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.2
323941902020Altered functional properties of a missense variant in the TRESK K(+) channel (KCNK18) associated with migraine and intellectual disability.6
327178132020The Background K(+) Channel TRESK in Sensory Physiology and Pain.6
323941902020Altered functional properties of a missense variant in the TRESK K(+) channel (KCNK18) associated with migraine and intellectual disability.6
327178132020The Background K(+) Channel TRESK in Sensory Physiology and Pain.6
300393352019Anionic Phospholipids Bind to and Modulate the Activity of Human TRESK Background K(+) Channel.4
309923112019TRESK (K2P18.1) Background Potassium Channel Is Activated by Novel-Type Protein Kinase C via Dephosphorylation.2
317425942019A causal role for TRESK loss of function in migraine mechanisms.30
300393352019Anionic Phospholipids Bind to and Modulate the Activity of Human TRESK Background K(+) Channel.4
309923112019TRESK (K2P18.1) Background Potassium Channel Is Activated by Novel-Type Protein Kinase C via Dephosphorylation.2

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-(potassium-two-pore-domain-channel-subfamily-k-member-18)