KCNJ8 (potassium inwardly rectifying channel subfamily J member 8)

2014-11-01  

Identity

HGNC
LOCATION
12p12.1
LOCUSID
ALIAS
KIR6.1,uKATP-1

Other Information

Locus ID:

NCBI: 3764
MIM: 600935
HGNC: 6269
Ensembl: ENSG00000121361

Variants:

dbSNP: 3764
ClinVar: 3764
TCGA: ENSG00000121361
COSMIC: KCNJ8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121361ENST00000240662Q15842
ENSG00000121361ENST00000240662A0A024RAV6
ENSG00000121361ENST00000537950F5GY12
ENSG00000121361ENST00000665145Q15842
ENSG00000121361ENST00000665145A0A024RAV6
ENSG00000121361ENST00000667884Q15842
ENSG00000121361ENST00000667884A0A024RAV6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Inwardly rectifying K+ channelsREACTOMER-HSA-1296065
ATP sensitive Potassium channelsREACTOMER-HSA-1296025

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
205583212010Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes.89
205583212010Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes.89
220567212012Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8.50
225626572012A KCNJ8 mutation associated with early repolarization and atrial fibrillation.36
247007102014Cantú syndrome resulting from activating mutation in the KCNJ8 gene.33
186631582008Protein kinase C-epsilon induces caveolin-dependent internalization of vascular adenosine 5'-triphosphate-sensitive K+ channels.22
199594792010Lipopolysaccharides up-regulate Kir6.1/SUR2B channel expression and enhance vascular KATP channel activity via NF-kappaB-dependent signaling.19
218361312011Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome.17
118259052002Assembly limits the pharmacological complexity of ATP-sensitive potassium channels.15
206247952010Interaction with caveolin-1 modulates vascular ATP-sensitive potassium (KATP) channel activity.15

Citation

Dessen P

KCNJ8 (potassium inwardly rectifying channel subfamily J member 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64792/kcnj8