KCNB1 (potassium voltage-gated channel subfamily B member 1)

2016-10-01  

Identity

HGNC
LOCATION
20q13.13
LOCUSID
ALIAS
DEE26,DRK1,Kv2.1

Other Information

Locus ID:

NCBI: 3745
MIM: 600397
HGNC: 6231
Ensembl: ENSG00000158445

Variants:

dbSNP: 3745
ClinVar: 3745
TCGA: ENSG00000158445
COSMIC: KCNB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158445ENST00000371741Q14721
ENSG00000158445ENST00000635465Q14721
ENSG00000158445ENST00000635878A0A1B0GU02
ENSG00000158445ENST00000637131A0A1B0GTM8

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356
Glucagon-like Peptide-1 (GLP1) regulates insulin secretionREACTOMER-HSA-381676

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
205668562010Localization-dependent activity of the Kv2.1 delayed-rectifier K+ channel.61
259088592015Induction of stable ER-plasma-membrane junctions by Kv2.1 potassium channels.41
192233942009SUMOylation regulates Kv2.1 and modulates pancreatic beta-cell excitability.40
251644382014De novo KCNB1 mutations in epileptic encephalopathy.38
197174452009Suppression of a pro-apoptotic K+ channel as a mechanism for hepatitis C virus persistence.34
224420772012Toxic role of K+ channel oxidation in mammalian brain.30
265037212015A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.26
124038342002Synaptosome-associated protein of 25 kilodaltons modulates Kv2.1 voltage-dependent K(+) channels in neuroendocrine islet beta-cells through an interaction with the channel N terminus.25
158271172005Fluorescence measurements reveal stoichiometry of K+ channels formed by modulatory and delayed rectifier alpha-subunits.25

Citation

Dessen P

KCNB1 (potassium voltage-gated channel subfamily B member 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56087/kcnb1