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

2014-08-01  

Identity

HGNC
KCNMB3
LOCATION
3q26.32
LOCUSID
27094
ALIAS
BKBETA3,HBETA3,K(VCA)BETA-3,KCNMB2,KCNMBL,SLO-BETA-3,SLOBETA3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
169580402007Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.32
169580402007Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.32
192040462009{beta} subunit-specific modulations of BK channel function by a mutation associated with epilepsy and dyskinesia.25
185914192008Species-specific Differences among KCNMB3 BK beta3 auxiliary subunits: some beta3 N-terminal variants may be primate-specific subunits.15
238262842013Polyunsaturated Fatty Acids Modulate the Association between PIK3CA-KCNMB3 Genetic Variants and Insulin Resistance.1
313647202019KCNMB3 in spinal microglia contributes to the generation and maintenance of neuropathic pain in mice.0

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