KCNMB1 (potassium calcium-activated channel subfamily M regulatory beta subunit 1)

2003-08-01  

Identity

HGNC
LOCATION
5q35.1
LOCUSID
ALIAS
BKbeta1,K(VCA)beta,SLO-BETA,hbeta1,hslo-beta,k(VCA)beta-1,slo-beta-1
FUSION GENES

Other Information

Locus ID:

NCBI: 3779
MIM: 603951
HGNC: 6285
Ensembl: ENSG00000145936

Variants:

dbSNP: 3779
ClinVar: 3779
TCGA: ENSG00000145936
COSMIC: KCNMB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145936ENST00000274629Q16558
ENSG00000145936ENST00000521859Q16558

Expression (GTEx)

0
50
100
150

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443796Coronary Artery DiseaseDiseaseClinicalAnnotationassociatedPD17700361
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD17700361, 18496125, 18854753
PA451868verapamilChemicalClinicalAnnotationassociatedPD17700361, 18496125, 18854753

References

Pubmed IDYearTitleCitations
155284062004Hemoxygenase-2 is an oxygen sensor for a calcium-sensitive potassium channel.130
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
164465072006Structural determinants for functional coupling between the beta and alpha subunits in the Ca2+-activated K+ (BK) channel.39
185350152008An african-specific functional polymorphism in KCNMB1 shows sex-specific association with asthma severity.38
185350152008An african-specific functional polymorphism in KCNMB1 shows sex-specific association with asthma severity.38
177003612007KCNMB1 genotype influences response to verapamil SR and adverse outcomes in the INternational VErapamil SR/Trandolapril STudy (INVEST).32
162937912005Protective effect of the KCNMB1 E65K genetic polymorphism against diastolic hypertension in aging women and its relevance to cardiovascular risk.30
209663912010Muscle-specific f-box only proteins facilitate bk channel β(1) subunit downregulation in vascular smooth muscle cells of diabetes mellitus.28
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
198016792009The smooth muscle cell-restricted KCNMB1 ion channel subunit is a direct transcriptional target of serum response factor and myocardin.26

Citation

Dessen P

KCNMB1 (potassium calcium-activated channel subfamily M regulatory beta subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/41050/kcnmb1