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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MIA3
MIA SH3 domain ER export factor 3
Chromosome 1 Β· 1q41
NCBI Gene: 375056Ensembl: ENSG00000154305.19HGNC: HGNC:24008UniProt: Q5JRA6
120PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcargo receptor activitycell migration involved in sprouting angiogenesispositive regulation of leukocyte migrationmyocardial infarctioncoronary artery diseasecoronary atherosclerosisangina pectoris
✦AI Summary

MIA3 (MIA SH3 domain ER export factor 3) is a specialized cargo receptor protein that facilitates the export of large proteins from the endoplasmic reticulum (ER) that cannot fit into standard COPII-coated vesicles. MIA3 specifically mediates the secretion of collagen VII (COL7A1) by loading it into transport carriers and binding to COPII coat subunits Sec23/24 to guide cargo into growing carriers 1. The protein also participates in lipoprotein transport and is required for correct assembly of COPII coat components at ER exit sites 1. MIA3 demonstrates significant disease relevance, particularly in cardiovascular pathology. Genetic variants in MIA3 are associated with coronary artery disease (CAD) risk across multiple populations 2. The protein regulates vascular smooth muscle cell (VSMC) proliferation, with higher MIA3 expression promoting atheroprotective VSMC phenotypes essential for protective fibrous cap formation 3. MIA3 also participates in a molecular signaling network with ADTRP through PI3K/AKT pathways, influencing endothelial cell functions relevant to atherosclerosis 1. Clinically, MIA3 mutations cause odontochondrodysplasia and have been implicated in Ehlers-Danlos-like syndromes due to disrupted collagen transport 4. Additionally, MIA3 shows oncogenic properties in hepatocellular carcinoma by promoting glutathione degradation through CHAC1 binding 5.

Sources cited
1
MIA3 mediates COL7A1 secretion by binding COPII coat subunits and participates in ADTRP signaling network
PMID: 28341552
2
MIA3 genetic variants are associated with coronary artery disease risk across populations
PMID: 24125424
3
MIA3 regulates VSMC proliferation and promotes atheroprotective phenotypes
PMID: 33040646
4
MIA3 mutations cause Ehlers-Danlos-like syndromes due to disrupted collagen transport
PMID: 36603143
5
MIA3 shows oncogenic properties in hepatocellular carcinoma through CHAC1-mediated glutathione degradation
PMID: 37948019
Disease Associationsβ“˜21
myocardial infarctionOpen Targets
0.51Moderate
coronary artery diseaseOpen Targets
0.51Moderate
coronary atherosclerosisOpen Targets
0.49Moderate
angina pectorisOpen Targets
0.49Moderate
odontochondrodysplasia 2 with hearing loss and diabetesOpen Targets
0.47Moderate
Myocardial IschemiaOpen Targets
0.46Moderate
heart failureOpen Targets
0.44Moderate
heart diseaseOpen Targets
0.43Moderate
response to statinOpen Targets
0.31Weak
acute myocardial infarctionOpen Targets
0.31Weak
polycythemiaOpen Targets
0.28Weak
cardiovascular diseaseOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.24Weak
intermediate coronary syndromeOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
coronary artery bypassOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
Abnormal nasolacrimal system morphologyOpen Targets
0.07Suggestive
femoral neck fractureOpen Targets
0.06Suggestive
poisoningOpen Targets
0.04Suggestive
Odontochondrodysplasia 2 with hearing loss and diabetesUniProt
Pathogenic Variants3
NM_198551.4(MIA3):c.3720+1G>ALikely pathogenic
Odontochondrodysplasia 2 with hearing loss and diabetes
β˜…β˜†β˜†β˜†2025
NM_198551.4(MIA3):c.3621A>G (p.Arg1207=)Pathogenic
ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES
β˜†β˜†β˜†β˜†2021β†’ Residue 1207
NM_198551.4(MIA3):c.354+2T>GLikely pathogenic
Odontochondrodysplasia2 with hearing loss and diabetes
β˜†β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
SEC13Protein interaction98%COL7A1Protein interaction96%SEC24CProtein interaction89%SEC16AProtein interaction89%PREBProtein interaction89%SEC24BProtein interaction89%
Tissue Expression6 tissues
Liver
100%
Brain
91%
Bone Marrow
85%
Heart
77%
Ovary
62%
Lung
54%
Gene Interaction Network
Click a node to explore
MIA3SEC13COL7A1SEC24CSEC16APREBSEC24B
PROTEIN STRUCTURE
Preparing viewer…
PDB5KYN Β· 2.55 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.55Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.45 [0.37–0.55]
RankingsWhere MIA3 stands among ~20K protein-coding genes
  • #3,923of 20,598
    Most Researched120 Β· top quartile
  • #3,974of 5,498
    Most Pathogenic Variants3
  • #3,535of 17,882
    Most Constrained (LOEUF)0.55 Β· top quartile
Genes detectedMIA3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic Regulation of Atherosclerosis-Relevant Phenotypes in Human Vascular Smooth Muscle Cells.
PMID: 33040646
Circ Res Β· 2020
1.00
2
Identification of a molecular signaling gene-gene regulatory network between GWAS susceptibility genes ADTRP and MIA3/TANGO1 for coronary artery disease.
PMID: 28341552
Biochim Biophys Acta Mol Basis Dis Β· 2017
0.90
3
Meta-analysis identifies robust association between SNP rs17465637 in MIA3 on chromosome 1q41 and coronary artery disease.
PMID: 24125424
Atherosclerosis Β· 2013
0.80
4
Association study between polymorphisms in MIA3, SELE, SMAD3 and CETP genes and coronary artery disease in an Iranian population.
PMID: 35768776
BMC Cardiovasc Disord Β· 2022
0.70
5
MIA3 in Coronary Artery Disease (CAD): An In-Depth Review of Its Role in Vascular Smooth Muscle Cell (VSMC) Homeostasis, Pathogenesis, and Its Therapeutic Potential.
PMID: 41216662
IUBMB Life Β· 2025
0.60