KCNE3 (potassium voltage-gated channel subfamily E regulatory subunit 3)

2014-11-01  

Identity

HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
BRGDA6,HOKPP,HYPP,MiRP2
FUSION GENES

Other Information

Locus ID:

NCBI: 10008
MIM: 604433
HGNC: 6243
Ensembl: ENSG00000175538

Variants:

dbSNP: 10008
ClinVar: 10008
TCGA: ENSG00000175538
COSMIC: KCNE3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175538ENST00000310128Q9Y6H6
ENSG00000175538ENST00000310128Q6IAE6
ENSG00000175538ENST00000525550Q9Y6H6
ENSG00000175538ENST00000525550Q6IAE6
ENSG00000175538ENST00000526855E9PJQ7
ENSG00000175538ENST00000529425E9PN03
ENSG00000175538ENST00000531854E9PJV9
ENSG00000175538ENST00000532569Q2N1I1

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 2 - plateau phaseREACTOMER-HSA-5576893
Phase 3 - rapid repolarisationREACTOMER-HSA-5576890

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191228472008Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.109
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
163083472006Interaction of KCNE subunits with the KCNQ1 K+ channel pore.62
182094712008KCNE3 mutation V17M identified in a patient with lone atrial fibrillation.31
264104122016KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.30
174950712007Up-regulation and increased activity of KV3.4 channels and their accessory subunit MinK-related peptide 2 induced by amyloid peptide are involved in apoptotic neuronal death.24
276260702016Structural basis for KCNE3 modulation of potassium recycling in epithelia.19
164498022006Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis.16
167820622006KCNE3 is an inhibitory subunit of the Kv4.3 potassium channel.16
193063962009Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome.16

Citation

Dessen P

KCNE3 (potassium voltage-gated channel subfamily E regulatory subunit 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64774/kcne3