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
377589492023Inactivation of the Kv2.1 channel through electromechanical coupling.5
377589492023Inactivation of the Kv2.1 channel through electromechanical coupling.5
349154302022Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.1
352315572022Cleavage of Kv2.1 by BACE1 decreases potassium current and reduces neuronal apoptosis.2
349154302022Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.1
352315572022Cleavage of Kv2.1 by BACE1 decreases potassium current and reduces neuronal apoptosis.2
334079942021The role of the voltage-gated potassium channel, Kv2.1 in prostate cancer cell migration.6
336074662021Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation.1
341374432021Kv2 channel-AMIGO β-subunit assembly modulates both channel function and cell adhesion molecule surface trafficking.5
334079942021The role of the voltage-gated potassium channel, Kv2.1 in prostate cancer cell migration.6
336074662021Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation.1
341374432021Kv2 channel-AMIGO β-subunit assembly modulates both channel function and cell adhesion molecule surface trafficking.5
315133102020Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.17
324840562020KCNB1 gene polymorphisms and related indel as predictor biomarkers of treatment response for colorectal cancer - toward a personalized medicine.4
329545142020Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.8

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-(potassium-voltage-gated-channel-subfamily-b-member-1)