MIA3 Gene - Melanoma Inhibitory Activity Family Member 3
Comprehensive gene card for MIA3, encoding a protein involved in collagen secretion and extracellular matrix organization.
Gene Information Card
| Symbol | MIA3 |
|---|---|
| Full Name | MIA SH3 domain containing |
| Gene Type | protein-coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 375056 ncbi.nlm.nih.gov/gene/375056 |
| Ensembl ID | ENSG00000154305 |
| UniProt ID | Q5JRA6 |
| OMIM ID | 613045 |
| HGNC ID | 24008 |
| Aliases | TANGO1, UNQ311/PRO356 |
Description
MIA3 (melanoma inhibitory activity family member 3), also known as TANGO1, encodes a transmembrane protein localized to the endoplasmic reticulum (ER) exit sites. It functions as a cargo receptor for the secretion of large proteins such as collagens (e.g., collagen VII and collagen IX) by facilitating the formation of ER-to-Golgi transport carriers. MIA3 is essential for proper extracellular matrix assembly and has been implicated in developmental processes and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | MIA3 expression is altered in melanoma; may influence tumor invasion and metastasis through collagen secretion modulation. | NCBI Gene, OMIM |
| Colorectal cancer | MIA3 overexpression correlates with poor prognosis; promotes cell migration and invasion via collagen VII secretion. | COSMIC, PubMed |
| Osteogenesis imperfecta (potential) | Defective collagen secretion due to MIA3 dysfunction may contribute to bone fragility. | OMIM, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 15.1 | Medium |
| Breast | 9.7 | Low |
| Bone marrow | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.8 | Cervical cancer cell line |
| A549 | 11.2 | Lung adenocarcinoma |
| HCT116 | 18.5 | Colorectal carcinoma |
| MCF7 | 7.9 | Breast cancer |
| SK-MEL-28 | 22.1 | Melanoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.567G>A (p.Gly189Arg) | Missense | 0.2% | Unknown significance; predicted damaging |
| c.2101_2102insA | Frameshift | <0.1% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, c.2101_2102insA) lead to truncated or absent MIA3 protein, impairing collagen secretion.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MIA3.
Dominant Negative (DN)
No evidence for dominant-negative effects; MIA3 functions as a homodimer, but dominant-negative variants have not been characterized.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Collagen biosynthesis and modifying enzymes
• ER to Golgi anterograde transport
• Protein processing in endoplasmic reticulum
Protein Summary
MIA3 (TANGO1) is a 1,907-amino acid transmembrane protein with an SH3 domain. It localizes to ER exit sites and acts as a cargo receptor for bulky secretory proteins like collagens. The protein forms homodimers and interacts with COPII components to generate transport carriers large enough for procollagen. MIA3 is essential for collagen VII secretion and extracellular matrix integrity. Its dysregulation is linked to cancer metastasis and connective tissue disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
Displaying Records 1 To 4 Of 4 Records
