KCNMB3 (potassium calcium-activated channel subfamily M regulatory beta subunit 3)

2014-08-01  

Identity

HGNC
LOCATION
3q26.32
LOCUSID
ALIAS
BKBETA3,HBETA3,K(VCA)BETA-3,KCNMB2,KCNMBL,SLO-BETA-3,SLOBETA3
FUSION GENES

Other Information

Locus ID:

NCBI: 27094
MIM: 605222
HGNC: 6287
Ensembl: ENSG00000171121

Variants:

dbSNP: 27094
ClinVar: 27094
TCGA: ENSG00000171121
COSMIC: KCNMB3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171121ENST00000314235Q9NPA1
ENSG00000171121ENST00000349697Q9NPA1
ENSG00000171121ENST00000392685Q9NPA1
ENSG00000171121ENST00000392686Q9NPA1
ENSG00000171121ENST00000485523Q9NPA1
ENSG00000171121ENST00000486944A0A087WV41
ENSG00000171121ENST00000497599Q9NPA1

Expression (GTEx)

0
1
2
3

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
313647202019KCNMB3 in spinal microglia contributes to the generation and maintenance of neuropathic pain in mice.3
313647202019KCNMB3 in spinal microglia contributes to the generation and maintenance of neuropathic pain in mice.3
238262842013Polyunsaturated Fatty Acids Modulate the Association between PIK3CA-KCNMB3 Genetic Variants and Insulin Resistance.3
238262842013Polyunsaturated Fatty Acids Modulate the Association between PIK3CA-KCNMB3 Genetic Variants and Insulin Resistance.3
192040462009{beta} subunit-specific modulations of BK channel function by a mutation associated with epilepsy and dyskinesia.31
192040462009{beta} subunit-specific modulations of BK channel function by a mutation associated with epilepsy and dyskinesia.31
185914192008Species-specific Differences among KCNMB3 BK beta3 auxiliary subunits: some beta3 N-terminal variants may be primate-specific subunits.16
185914192008Species-specific Differences among KCNMB3 BK beta3 auxiliary subunits: some beta3 N-terminal variants may be primate-specific subunits.16
169580402007Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.41
169580402007Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.41
169580402007Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.41
169580402007Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.41

Citation

Dessen P

KCNMB3 (potassium calcium-activated channel subfamily M regulatory beta subunit 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54396/kcnmb3-(potassium-calcium-activated-channel-subfamily-m-regulatory-beta-subunit-3)