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
338464862021The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia.3
347116812021Vascular K(ATP) channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.24
338464862021The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia.3
347116812021Vascular K(ATP) channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.24
321004672020Three-dimensional facial morphology in Cantú syndrome.4
322159682020A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome.4
321004672020Three-dimensional facial morphology in Cantú syndrome.4
322159682020A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome.4
236327912014The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.8
247007102014Cantú syndrome resulting from activating mutation in the KCNJ8 gene.65
236327912014The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.8
247007102014Cantú syndrome resulting from activating mutation in the KCNJ8 gene.65
233698592013KATP channels are up-regulated with increasing age in human myometrium.8
233698592013KATP channels are up-regulated with increasing age in human myometrium.8
220567212012Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8.66

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-(potassium-inwardly-rectifying-channel-subfamily-j-member-8)