Identity
HGNC
LOCATION
1q41
LOCUSID
ALIAS
ARNT,D320,ODCD2,TANGO,TANGO1,UNQ6077
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 375056
MIM: 613455
HGNC: 24008
Ensembl: ENSG00000154305
Variants:
dbSNP: 375056
ClinVar: 375056
TCGA: ENSG00000154305
COSMIC: MIA3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000154305 | ENST00000340535 | Q5JRA6 |
| ENSG00000154305 | ENST00000344922 | Q5JRA6 |
| ENSG00000154305 | ENST00000354906 | A0A0A0MRH6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36603143 | 2023 | A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers-Danlos hypermobile syndrome. | 1 |
| 37067501 | 2023 | Caspase 1 Enhances Transport and Golgi Organization Protein 1 Expression to Promote Procollagen Export From the Endoplasmic Reticulum in Systemic Sclerosis Contributing to Fibrosis. | 1 |
| 37211171 | 2023 | TANGO1 interacts with NRTN to promote hepatocellular carcinoma progression by regulating the PI3K/AKT/mTOR signaling pathway. | 3 |
| 36603143 | 2023 | A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers-Danlos hypermobile syndrome. | 1 |
| 37067501 | 2023 | Caspase 1 Enhances Transport and Golgi Organization Protein 1 Expression to Promote Procollagen Export From the Endoplasmic Reticulum in Systemic Sclerosis Contributing to Fibrosis. | 1 |
| 37211171 | 2023 | TANGO1 interacts with NRTN to promote hepatocellular carcinoma progression by regulating the PI3K/AKT/mTOR signaling pathway. | 3 |
| 33581269 | 2021 | Low HDL concentration in rs2048327-G carriers can predispose men to develop coronary heart disease: Tehran Cardiometabolic genetic study (TCGS). | 3 |
| 34350936 | 2021 | A general role for TANGO1, encoded by MIA3, in secretory pathway organization and function. | 9 |
| 33581269 | 2021 | Low HDL concentration in rs2048327-G carriers can predispose men to develop coronary heart disease: Tehran Cardiometabolic genetic study (TCGS). | 3 |
| 34350936 | 2021 | A general role for TANGO1, encoded by MIA3, in secretory pathway organization and function. | 9 |
| 32101163 | 2020 | Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion. | 24 |
| 32452385 | 2020 | TANGO1 membrane helices create a lipid diffusion barrier at curved membranes. | 11 |
| 32101163 | 2020 | Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion. | 24 |
| 32452385 | 2020 | TANGO1 membrane helices create a lipid diffusion barrier at curved membranes. | 11 |
| 31804579 | 2019 | The Mediterranean diet reduces the genetic risk of chromosome 9p21 for myocardial infarction in an Asian population community cohort. | 5 |
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
