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

2015-11-01  

Identity

HGNC
KCNMB4
LOCATION
12q15
LOCUSID
27345
ALIAS
-
FUSION GENES
Show Gene Fusions

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
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
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
345622102022Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population.0
345622102022Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population.0
318156722019Molecular structures of the human Slo1 K(+) channel in complex with β4.58
318156722019Molecular structures of the human Slo1 K(+) channel in complex with β4.58
244142572014IFN-γ-mediated reduction of large-conductance, Ca2+-activated, voltage-dependent K+ (BK) channel activity in airway epithelial cells leads to mucociliary dysfunction.26
244860492014An endoplasmic reticulum trafficking signal regulates surface expression of β4 subunit of a voltage- and Ca²⁺-activated K⁺ channel.9
247591752014Recombinant expression and functional characterization of martentoxin: a selective inhibitor for BK channel (α + β4).9
251908102014Large conductance voltage- and Ca2+-gated potassium (BK) channel β4 subunit influences sensitivity and tolerance to alcohol by altering its response to kinases.14
253007972014Recurrent LRP1-SNRNP25 and KCNMB4-CCND3 fusion genes promote tumor cell motility in human osteosarcoma.20
244142572014IFN-γ-mediated reduction of large-conductance, Ca2+-activated, voltage-dependent K+ (BK) channel activity in airway epithelial cells leads to mucociliary dysfunction.26
244860492014An endoplasmic reticulum trafficking signal regulates surface expression of β4 subunit of a voltage- and Ca²⁺-activated K⁺ channel.9
247591752014Recombinant expression and functional characterization of martentoxin: a selective inhibitor for BK channel (α + β4).9
251908102014Large conductance voltage- and Ca2+-gated potassium (BK) channel β4 subunit influences sensitivity and tolerance to alcohol by altering its response to kinases.14
253007972014Recurrent LRP1-SNRNP25 and KCNMB4-CCND3 fusion genes promote tumor cell motility in human osteosarcoma.20
236238472013Failure to confirm association of a polymorphism in KCNMB4 gene with mesial temporal lobe epilepsy.2

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