MIA2: Melanoma Inhibitory Activity 2
A gene encoding a secreted protein involved in melanoma suppression and lipid metabolism.
Gene Information Card
| Symbol | MIA2 |
|---|---|
| Full Name | Melanoma Inhibitory Activity 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q13.2 |
| NCBI Gene ID | 117153 ncbi.nlm.nih.gov/gene/117153 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q96PC5 |
| OMIM ID | 609398 |
| HGNC ID | 17976 |
| Aliases | MIA2, MIA-2, MIA2_HUMAN |
Description
MIA2 (Melanoma Inhibitory Activity 2) is a protein-coding gene located on chromosome 14q13.2. It encodes a secreted protein that belongs to the MIA/OTOR family. MIA2 is involved in the suppression of melanoma cell growth and migration, and also plays a role in lipid metabolism, particularly in the liver. The protein contains an SH3-like domain and is expressed in various tissues, with highest levels in the liver and pancreas. Mutations and altered expression of MIA2 have been associated with hepatocellular carcinoma and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Reduced MIA2 expression may contribute to tumor progression via loss of growth inhibitory signals. | PMID: 19029980 |
| Melanoma | MIA2 acts as a tumor suppressor; downregulation correlates with increased invasiveness. | PMID: 15604209 |
| Non-alcoholic fatty liver disease (NAFLD) | MIA2 is involved in lipid droplet formation and VLDL secretion; dysregulation may promote steatosis. | PMID: 25257636 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 28.5 | High |
| Pancreas | 15.2 | Medium |
| Kidney | 8.1 | Medium |
| Lung | 4.3 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 22.0 | Hepatocellular carcinoma cell line |
| PANC-1 | 12.5 | Pancreatic cancer cell line |
| A549 | 3.8 | Lung carcinoma cell line |
| MCF7 | 1.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional effect; reported in COSMIC |
| c.1012G>A (p.Gly338Arg) | Missense | <0.01% | Reported in hepatocellular carcinoma |
| c.1345_1346insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function, potentially contributing to tumor progression.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MIA2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for MIA2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Insulin signaling pathway (Reactome: R-HSA-422085)
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• Regulation of lipid metabolism by PPARalpha (Reactome: R-HSA-400206)
Protein Summary
The MIA2 protein (UniProt Q96PC5) is a 465-amino-acid secreted protein with an N-terminal signal peptide and an SH3-like domain. It is synthesized as a precursor and cleaved to generate a mature form. MIA2 is involved in cell adhesion, migration, and lipid homeostasis. In the liver, it facilitates VLDL assembly and secretion. The protein is also implicated in tumor suppression, particularly in melanoma and hepatocellular carcinoma, where its loss promotes invasive behavior.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIA2 Knockout HEK293 Cell Line | EDJ-KQ2374 | Human | 4253 | Details Get a Quote |
| MIA2 Knockout A-549 Cell Line | EDJ-KQ22835 | Human | 4253 | Details Get a Quote |
| MIA2 Knockout HCT 116 Cell Line | EDJ-KQ22836 | Human | 4253 | Details Get a Quote |
| MIA2 Knockout HeLa Cell Line | EDJ-KQ22837 | Human | 4253 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
