KCNMB4 (potassium calcium-activated channel subfamily M regulatory beta subunit 4)

2015-11-01  

Identity

HGNC
LOCATION
12q15
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 27345
MIM: 605223
HGNC: 6289
Ensembl: ENSG00000135643

Variants:

dbSNP: 27345
ClinVar: 27345
TCGA: ENSG00000135643
COSMIC: KCNMB4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135643ENST00000258111Q86W47
ENSG00000135643ENST00000531884H0YC85

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Vascular smooth muscle contractionKEGGhsa04270
Vascular smooth muscle contractionKEGGko04270
Insulin secretionKEGGhsa04911
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Ca2+ activated K+ channelsREACTOMER-HSA-1296052
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Nitric oxide stimulates guanylate cyclaseREACTOMER-HSA-392154
cGMP effectsREACTOMER-HSA-418457

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
179135862007Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.58
189814082008Identification of a BK channel auxiliary protein controlling molecular and behavioral tolerance to alcohol.52
192040462009{beta} subunit-specific modulations of BK channel function by a mutation associated with epilepsy and dyskinesia.25
185593482008Structural basis for toxin resistance of beta4-associated calcium-activated potassium (BK) channels.21
244142572014IFN-γ-mediated reduction of large-conductance, Ca2+-activated, voltage-dependent K+ (BK) channel activity in airway epithelial cells leads to mucociliary dysfunction.20
195785432009Interactions between beta subunits of the KCNMB family and Slo3: beta4 selectively modulates Slo3 expression and function.18
218489222011Modulation by the BK accessory β4 subunit of phosphorylation-dependent changes in excitability of dentate gyrus granule neurons.13
251908102014Large conductance voltage- and Ca2+-gated potassium (BK) channel β4 subunit influences sensitivity and tolerance to alcohol by altering its response to kinases.12
253007972014Recurrent LRP1-SNRNP25 and KCNMB4-CCND3 fusion genes promote tumor cell motility in human osteosarcoma.12
244860492014An endoplasmic reticulum trafficking signal regulates surface expression of β4 subunit of a voltage- and Ca²⁺-activated K⁺ channel.9

Citation

Dessen P

KCNMB4 (potassium calcium-activated channel subfamily M regulatory beta subunit 4)

Atlas Genet Cytogenet Oncol Haematol. 2015-11-01

Online version: http://atlasgeneticsoncology.org/gene/55506/kcnmb4