MAGEB3
MAGE Family Member B3
Gene Information Card
| Symbol | MAGEB3 |
|---|---|
| Full Name | MAGE family member B3 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp21.3 |
| NCBI Gene ID | 4113 ncbi.nlm.nih.gov/gene/4113 |
| Ensembl ID | ENSG00000169083 |
| UniProt ID | Q9Y5V3 |
| OMIM ID | 300759 |
| HGNC ID | 6810 |
| Aliases | MAGE-B3, MAGEB3, MAGEB3 antigen |
Description
MAGEB3 is a member of the melanoma-associated antigen (MAGE) gene family, which encodes cancer-testis antigens (CTAs). These proteins are normally expressed in germ cells but are aberrantly activated in various cancers. MAGEB3 is located on chromosome Xp21.3 and is involved in protein binding and regulation of cell cycle. Its expression is largely restricted to testis and placenta, with frequent re-expression in melanoma, lung, and breast cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Re-expression of MAGEB3 as a cancer-testis antigen; may promote tumor immune evasion | NCBI Gene, COSMIC |
| Non-small cell lung cancer | Aberrant MAGEB3 expression linked to poor prognosis | COSMIC, ClinVar |
| Breast cancer | MAGEB3 upregulation observed in tumor tissues | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.4 | High |
| Placenta | 5.2 | Low |
| Skin | 0.8 | Not detected |
| Lung | 0.5 | Not detected |
| Breast | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 (melanoma) | 45.6 | High expression |
| A549 (lung cancer) | 12.3 | Moderate expression |
| MCF7 (breast cancer) | 8.9 | Low expression |
| HEK293 (embryonic kidney) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.02% (COSMIC) | Unknown functional impact |
| c.235C>T | nonsense | 0.01% (COSMIC) | Predicted loss of function |
| c.456_457insA | frameshift | 0.005% (COSMIC) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in MAGEB3 are predicted to truncate the protein, leading to loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported for MAGEB3.
Dominant Negative (DN)
No dominant-negative mutations described for MAGEB3.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • regulation of cell cycle |
| • negative regulation of apoptosis |
Pathways
• Cancer-testis antigen pathway
• p53 signaling pathway (indirect)
Protein Summary
MAGEB3 is a 346-amino acid protein belonging to the MAGE family. It contains a conserved MAGE homology domain (MHD) and is localized in the cytoplasm and nucleus. The protein interacts with E3 ubiquitin ligases and may modulate p53 activity. Its expression is normally restricted to testis and placenta, but it is re-expressed in various cancers, contributing to tumorigenesis and immune evasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGEB3 Knockout HEK293 Cell Line | EDJ-KQ5163 | Human | 4114 | Details Get a Quote |
| MAGEB3 Knockout HeLa Cell Line | EDJ-KQ53835 | Human | 4114 | Details Get a Quote |
| MAGEB3 Knockout A-549 Cell Line | EDJ-KQ62319 | Human | 4114 | Details Get a Quote |
| MAGEB3 Knockout HCT 116 Cell Line | EDJ-KQ70796 | Human | 4114 | Details Get a Quote |
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