KCNA6 (potassium voltage-gated channel subfamily A member 6)

2008-07-01  

Identity

HGNC
LOCATION
12p13.32
LOCUSID
ALIAS
HBK2,KV1.6,PPP1R96
FUSION GENES

Other Information

Locus ID:

NCBI: 3742
MIM: 176257
HGNC: 6225
Ensembl: ENSG00000130035

Variants:

dbSNP: 3742
ClinVar: 3742
TCGA: ENSG00000130035
COSMIC: KCNA6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130035ENST00000252318Q9NY28
ENSG00000130035ENST00000535354H0YGU9
ENSG00000130035ENST00000542998H0YFU9

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-linked glycosylation of mucinsREACTOMER-HSA-913709
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072

References

Pubmed IDYearTitleCitations
363181122023De novo KCNA6 variants with attenuated K(V) 1.6 channel deactivation in patients with epilepsy.4
363181122023De novo KCNA6 variants with attenuated K(V) 1.6 channel deactivation in patients with epilepsy.4
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
181625572008The RCK2 domain of the human BKCa channel is a calcium sensor.50
184748432008Clinical spectrum of voltage-gated potassium channel autoimmunity.53
181625572008The RCK2 domain of the human BKCa channel is a calcium sensor.50
184748432008Clinical spectrum of voltage-gated potassium channel autoimmunity.53

Citation

Dessen P

KCNA6 (potassium voltage-gated channel subfamily A member 6)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50159/kcna6-(potassium-voltage-gated-channel-subfamily-a-member-6)