KCNK6 (potassium two pore domain channel subfamily K member 6)

2014-11-01  

Identity

HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
K2p6.1,KCNK8,TOSS,TWIK-2,TWIK2
FUSION GENES

Other Information

Locus ID:

NCBI: 9424
MIM: 603939
HGNC: 6281
Ensembl: ENSG00000099337

Variants:

dbSNP: 9424
ClinVar: 9424
TCGA: ENSG00000099337
COSMIC: KCNK6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099337ENST00000263372Q9Y257
ENSG00000099337ENST00000263372B2RDS2

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Tandem pore domain potassium channelsREACTOMER-HSA-1296346
Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK)REACTOMER-HSA-1299308
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
200299522010Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study.34
219644042012A role for two-pore K⁺ channels in modulating Na⁺ absorption and Cl⁻ secretion in normal human bronchial epithelial cells.18
146894452004Genomic structure, cochlear expression, and mutation screening of KCNK6, a candidate gene for DFNA4.5

Citation

Dessen P

KCNK6 (potassium two pore domain channel subfamily K member 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64799/kcnk6