MCUB (mitochondrial calcium uniporter dominant negative subunit beta)

2018-07-01  

Identity

HGNC
MCUB
LOCATION
4q25
LOCUSID
55013
ALIAS
CCDC109B

Other Information

Locus ID:

NCBI: 55013
HGNC: 26076
Ensembl: ENSG00000005059

Variants:

dbSNP: 55013
ClinVar: 55013
TCGA: ENSG00000005059
COSMIC: MCUB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000005059ENST00000394650Q9NWR8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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

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
315334522019MCUB Regulates the Molecular Composition of the Mitochondrial Calcium Uniporter Channel to Limit Mitochondrial Calcium Overload During Stress.68
315334522019MCUB Regulates the Molecular Composition of the Mitochondrial Calcium Uniporter Channel to Limit Mitochondrial Calcium Overload During Stress.68
287541212017Coiled-coil domain containing 109B is a HIF1α-regulated gene critical for progression of human gliomas.14
287541212017Coiled-coil domain containing 109B is a HIF1α-regulated gene critical for progression of human gliomas.14
242318072013EMRE is an essential component of the mitochondrial calcium uniporter complex.366
242318072013EMRE is an essential component of the mitochondrial calcium uniporter complex.366
203320992010A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.8
203320992010A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.8
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.9
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.9

Citation

Dessen P

MCUB (mitochondrial calcium uniporter dominant negative subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57554/mcub-(mitochondrial-calcium-uniporter-dominant-negative-subunit-beta)