MIA (Melanoma Inhibitory Activity) Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the MIA gene, including its genomic organization, protein function, expression patterns, associated diseases, and mutational landscape.
Gene Information Card
| Symbol | MIA |
|---|---|
| Full Name | Melanoma Inhibitory Activity |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 8190 ncbi.nlm.nih.gov/gene/8190 |
| Ensembl ID | ENSG00000126895 |
| UniProt ID | Q16674 |
| OMIM ID | 601004 |
| HGNC ID | 7073 |
| Aliases | CD-RAP, MIA1 |
Description
The MIA gene encodes the Melanoma Inhibitory Activity protein, also known as cartilage-derived retinoic acid-sensitive protein (CD-RAP). This small secreted protein is involved in various biological processes, including cell growth, differentiation, and apoptosis. It is highly expressed in malignant melanoma cells and plays a significant role in tumor progression and metastasis. MIA is also expressed in developing cartilage and is used as a biomarker for melanoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | MIA is overexpressed in malignant melanoma. It promotes tumor cell detachment, invasion, and metastasis by inhibiting cell-matrix adhesion and inducing anolikis resistance. It also has immunosuppressive effects. | High expression levels in melanoma correlate with poor prognosis and metastasis. MIA is a well-established serum biomarker for melanoma. |
| Rheumatoid Arthritis | MIA is expressed in the synovium of patients with rheumatoid arthritis. It may contribute to the invasive phenotype of synovial fibroblasts. | Elevated MIA levels are found in the serum and synovial fluid of RA patients, suggesting a role in joint destruction. |
| Chondrosarcoma | MIA is expressed in chondrosarcomas, reflecting its role in cartilage development. | Expression is observed in tumor tissues, but its role in this malignancy is less defined compared to melanoma. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | Not specified | High expression in fetal and adult cartilage. |
| Skin | Not specified | Low expression in normal skin, but high in melanoma. |
| Placenta | Not specified | Moderate expression. |
| Testis | Not specified | Low expression. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A375 (Melanoma) | Not specified | High expression; used as a model for melanoma studies. |
| SK-MEL-28 (Melanoma) | Not specified | High expression. |
| HT-1080 (Fibrosarcoma) | Not specified | Moderate expression. |
| MCF7 (Breast Cancer) | Not specified | Low expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential impact on protein translation initiation; clinical significance is unknown. |
| c.3G>A (p.Met1Ile) | Missense | Rare | Potential impact on protein translation initiation; clinical significance is unknown. |
| c.4G>A (p.Ala2Thr) | Missense | Rare | May affect signal peptide cleavage; clinical significance is unknown. |
Mutation functional classification
Loss of Function (LOF)
No clear loss-of-function mutations have been characterized for MIA. Its primary role in cancer is as an oncogene, and its overexpression is associated with malignancy.
Gain of Function (GOF)
Gain-of-function is primarily achieved through overexpression, not specific mutations. Amplification of the MIA locus or increased transcriptional activity leads to higher protein levels, promoting tumor invasion and metastasis.
Dominant Negative (DN)
No dominant-negative mutations have been described for MIA.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • extracellular region |
| • extracellular space | • cell adhesion |
| • negative regulation of cell adhesion | • cell migration |
| • positive regulation of cell migration | • apoptotic process |
| • negative regulation of apoptotic process | • cartilage development |
| • response to retinoic acid |
Pathways
• Integrin signaling pathway (inhibition)
• p53 signaling pathway (modulation)
• Extracellular matrix organization
Protein Summary
The MIA protein is a small, secreted 131-amino acid protein that forms a beta-sandwich structure. It is synthesized as a precursor with a signal peptide that is cleaved to produce the mature protein. MIA functions as a paracrine/autocrine factor. It binds to fibronectin and integrins, disrupting cell-matrix interactions. This promotes cell detachment and migration, which are critical steps in tumor invasion and metastasis. MIA also inhibits the p53 pathway, contributing to cell survival and resistance to apoptosis. In cartilage, it plays a role in chondrogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIA2 Knockout HEK293 Cell Line | EDJ-KQ2374 | Human | 4253 | Details Get a Quote |
| MIA Knockout HEK293 Cell Line | EDJ-KQ6182 | Human | 8190 | Details Get a Quote |
| MIA3 Knockout HEK293 Cell Line | EDJ-KQ12198 | Human | 375056 | Details Get a Quote |
| MIA3 Knockout A-549 Cell Line | EDJ-KQ40925 | Human | 375056 | Details Get a Quote |
| MIA3 Knockout HCT 116 Cell Line | EDJ-KQ40926 | Human | 375056 | Details Get a Quote |
| MIA3 Knockout HeLa Cell Line | EDJ-KQ40927 | Human | 375056 | 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 |
| MIA Knockout HeLa Cell Line | EDJ-KQ54830 | Human | 8190 | Details Get a Quote |
| MIA Knockout A-549 Cell Line | EDJ-KQ63321 | Human | 8190 | Details Get a Quote |
| MIA Knockout HCT 116 Cell Line | EDJ-KQ71791 | Human | 8190 | Details Get a Quote |
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