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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MIA2
MIA SH3 domain ER export factor 2
Chromosome 14 · 14q21.1
NCBI Gene: 4253Ensembl: ENSG00000150527.19HGNC: HGNC:18432UniProt: Q4G155
80PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingendoplasmic reticulum exit siteendoplasmic reticulummembranebrain aneurysmvitamin deficiency disorderfamilial hypercholesterolemiahypertriglyceridemia 2
✦AI Summary

MIA2 (MIA SH3 domain ER export factor 2) is a transmembrane endoplasmic reticulum (ER) protein essential for transporting cargo too large for standard COPII vesicles. MIA2 facilitates ER-to-Golgi export of large proteins including collagen VII (COL7A1) and lipoproteins (pre-chylomicrons and pre-VLDLs) by loading cargo into transport carriers and recruiting PREB/SEC12 at ER exit sites 1234. In medaka fish, MIA2-encoded Tali is necessary for type II collagen export, though other MIA2 splice variants appear dispensable 5. MIA2 expression is hepatocyte-specific, controlled by HNF-1 binding sites, and upregulated in chr14 liver disease as a potential acute phase protein marker 6. In hepatocellular carcinoma (HCC), MIA2 functions as a tumor suppressor—loss of MIA2 expression correlates with reduced HNF-1 levels, increased proliferation, and enhanced invasiveness 7. Conversely, MIA2 exhibits pro-tumoral roles in oral squamous cell carcinoma, suppressing lymphocyte infiltration through integrin-MAPK interactions 8. A common MIA2 variant (I141M) associates with heightened ER stress/unfolded protein response in pancreatic cancer, conferring chemotherapy sensitivity 9. CircNRIP1 acts as a tumor suppressor in osteosarcoma by upregulating MIA2 through miR-1200 sponging 10.

Sources cited
1
In medaka fish, MIA2-encoded Tali is necessary for type II collagen export, though other MIA2 splice variants appear dispensable .
PMID: 39842788
2
MIA2 expression is hepatocyte-specific, controlled by HNF-1 binding sites, and upregulated in chr14 liver disease as a potential acute phase protein marker .
PMID: 12586826
3
In hepatocellular carcinoma (HCC), MIA2 functions as a tumor suppressor—loss of MIA2 expression correlates with reduced HNF-1 levels, increased proliferation, and enhanced invasiveness .
PMID: 17881540
4
Conversely, MIA2 exhibits pro-tumoral roles in oral squamous cell carcinoma, suppressing lymphocyte infiltration through integrin-MAPK interactions .
PMID: 23511560
5
A common MIA2 variant (I141M) associates with heightened ER stress/unfolded protein response in pancreatic cancer, conferring chemotherapy sensitivity .
PMID: 25657029
6
CircNRIP1 acts as a tumor suppressor in osteosarcoma by upregulating MIA2 through miR-1200 sponging .
PMID: 35812061
Disease Associationsⓘ20
brain aneurysmOpen Targets
0.19Weak
vitamin deficiency disorderOpen Targets
0.08Suggestive
familial hypercholesterolemiaOpen Targets
0.06Suggestive
hypertriglyceridemia 2Open Targets
0.06Suggestive
oral squamous cell carcinomaOpen Targets
0.05Suggestive
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.04Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.04Suggestive
transient ischemic attackOpen Targets
0.04Suggestive
fish eye diseaseOpen Targets
0.04Suggestive
Fish-eye diseaseOpen Targets
0.04Suggestive
sitosterolemia 2Open Targets
0.04Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.04Suggestive
hypercholesterolemia, autosomal dominant, 3Open Targets
0.04Suggestive
hypothyroidismOpen Targets
0.04Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.03Suggestive
Hyperlipoproteinemia type 1Open Targets
0.03Suggestive
hypercholesterolemia, autosomal dominant, type BOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CTAGE8Shared pathway100%CTAGE4Shared pathway100%CTAGE9Shared pathway100%CTAGE15Shared pathway100%CTAGE6Shared pathway100%CTAGE1Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
75%
Liver
39%
Brain
6%
Lung
5%
Ovary
5%
Gene Interaction Network
Click a node to explore
MIA2CTAGE8CTAGE4CTAGE9CTAGE15CTAGE6CTAGE1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q4G155
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.87LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.58–0.87]
RankingsWhere MIA2 stands among ~20K protein-coding genes
  • #5,942of 20,598
    Most Researched80
  • #7,727of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedMIA2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Specific expression and regulation of the new melanoma inhibitory activity-related gene MIA2 in hepatocytes.
PMID: 12586826
J Biol Chem · 2003
1.00
2
Coordinated reprogramming of renal cancer transcriptome, metabolome and secretome associates with immune tumor infiltration.
PMID: 36604669
Cancer Cell Int · 2023
0.90
3
Protumoral roles of melanoma inhibitory activity 2 in oral squamous cell carcinoma.
PMID: 23511560
Br J Cancer · 2013
0.80
4
TANGO1 interacts with NRTN to promote hepatocellular carcinoma progression by regulating the PI3K/AKT/mTOR signaling pathway.
PMID: 37211171
Biochem Pharmacol · 2023
0.70
5
A common genetic variation of melanoma inhibitory activity-2 labels a subtype of pancreatic adenocarcinoma with high endoplasmic reticulum stress levels.
PMID: 25657029
Sci Rep · 2015
0.60