MIA3 (MIA SH3 domain ER export factor 3)

2006-05-01  

Identity

HGNC
MIA3
LOCATION
1q41
LOCUSID
375056
ALIAS
ARNT,D320,ODCD2,TANGO,TANGO1,UNQ6077
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 375056
MIM: 613455
HGNC: 24008
Ensembl: ENSG00000154305

Variants:

dbSNP: 375056
ClinVar: 375056
TCGA: ENSG00000154305
COSMIC: MIA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154305ENST00000340535Q5JRA6
ENSG00000154305ENST00000344922Q5JRA6
ENSG00000154305ENST00000354906A0A0A0MRH6

Expression (GTEx)

0
5
10
15
20
25
30
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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Cargo concentration in the ERREACTOMER-HSA-5694530

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
191986092009Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.460
209713642010A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.181
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
265683112015TANGO1 recruits ERGIC membranes to the endoplasmic reticulum for procollagen export.31
275510912016TANGO1/cTAGE5 receptor as a polyvalent template for assembly of large COPII coats.27
199554712010Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study.18
284425362017TANGO1 recruits Sec16 to coordinately organize ER exit sites for efficient secretion.16
295132182018TANGO1 builds a machine for collagen export by recruiting and spatially organizing COPII, tethers and membranes.15
206945602011Common genetic polymorphisms in moyamoya and atherosclerotic disease in Europeans.8
207389372010Additive effect of multiple genetic variants on the risk of coronary artery disease.8

Citation

Dessen P

MIA3 (MIA SH3 domain ER export factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2006-05-01

Online version: http://atlasgeneticsoncology.org/gene/43090/mia3