MICU2 (mitochondrial calcium uptake 2)

2014-11-01  

Identity

HGNC
MICU2
LOCATION
13q12.11
LOCUSID
221154
ALIAS
1110008L20Rik,EFHA1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 221154
MIM: 610632
HGNC: 31830
Ensembl: ENSG00000165487

Variants:

dbSNP: 221154
ClinVar: 221154
TCGA: ENSG00000165487
COSMIC: MICU2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165487ENST00000382374Q8IYU8
ENSG00000165487ENST00000382374A0A0S2Z6V5
ENSG00000165487ENST00000468222A0A0A0MTD5

Expression (GTEx)

0
10
20
30
40
50
60
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
245609272014MICU1 and MICU2 finely tune the mitochondrial Ca2+ uniporter by exerting opposite effects on MCU activity.164
234090442013MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling.154
234090442013MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling.154
245030552014MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter.80
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
286152912017High-affinity cooperative Ca2+ binding by MICU1-MICU2 serves as an on-off switch for the uniporter.38
292415422017MICU2 Restricts Spatial Crosstalk between InsP3R and MCU Channels by Regulating Threshold and Gain of MICU1-Mediated Inhibition and Activation of MCU.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
290731062017Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter.12
290538212017A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.10

Citation

Dessen P

MICU2 (mitochondrial calcium uptake 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68978/micu2