MAGEA4: Melanoma-Associated Antigen Family Member 4
Cancer/Testis Antigen with Roles in Spermatogenesis and Tumor Immune Evasion
Gene Information Card
| Symbol | MAGEA4 |
|---|---|
| Full Name | MAGE family member A4 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 4103 ncbi.nlm.nih.gov/gene/4103 |
| Ensembl ID | ENSG00000147381 |
| UniProt ID | P43358 |
| OMIM ID | 300172 |
| HGNC ID | 6800 |
| Aliases | MAGE-4, MAGE4, MAGE4A, MAGE-41, MAGE-42, CT1.4 |
Description
MAGEA4 is a member of the melanoma-associated antigen (MAGE) gene family, which encodes cancer/testis antigens (CTAs). These proteins are normally expressed only in male germ cells but are aberrantly reactivated in various cancers. MAGEA4 functions as a negative regulator of p53/TP53 by directly binding to the p53 transactivation domain, thereby inhibiting p53-mediated apoptosis and cell cycle arrest. It also plays a role in spermatogenesis and may contribute to tumor immune evasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-small cell lung cancer | MAGEA4 overexpression inhibits p53-dependent apoptosis, promoting tumor survival | PMID: 19029980 |
| Esophageal squamous cell carcinoma | Frequent MAGEA4 expression correlates with poor prognosis and resistance to chemotherapy | PMID: 15604238 |
| Hepatocellular carcinoma | MAGEA4 upregulation associated with tumor progression and metastasis | PMID: 23327982 |
| Ovarian cancer | MAGEA4 expression detected in a subset of tumors, linked to immune evasion | PMID: 17699754 |
| Melanoma | MAGEA4 is a target for cancer immunotherapy due to restricted normal tissue expression | PMID: 7539677 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.6 | High |
| Placenta | 1.2 | Low |
| Esophagus | 0.8 | Low |
| Lung | 0.3 | Not detected |
| Skin | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung adenocarcinoma) | 12.3 | MAGEA4 positive by RNA-seq |
| SK-MEL-28 (melanoma) | 8.7 | MAGEA4 positive |
| HepG2 (hepatocellular carcinoma) | 5.4 | MAGEA4 positive |
| MCF7 (breast cancer) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Potential loss of start codon; functional impact unknown |
| c.287C>T (p.Pro96Leu) | missense | <0.1% | Rare variant; no known disease association |
| c.523G>A (p.Gly175Arg) | missense | <0.1% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in MAGEA4.
Gain of Function (GOF)
Overexpression in tumors is considered a gain-of-function event, enhancing p53 inhibition and tumor survival.
Dominant Negative (DN)
No dominant-negative mutations described for MAGEA4.
View complete mutation data：
Gene Ontology (GO)
Pathways
• p53 signaling pathway (Reactome: R-HSA-3700989)
• Regulation of TP53 Activity through Association with Co-factors (Reactome: R-HSA-6804757)
Protein Summary
MAGEA4 is a 317-amino acid protein (UniProt P43358) belonging to the MAGE family. It contains a conserved MAGE homology domain (MHD) that mediates interaction with p53. The protein is predominantly cytoplasmic but can translocate to the nucleus. MAGEA4 lacks enzymatic activity and functions primarily as a scaffold that recruits histone deacetylases (HDACs) to repress p53 target genes. Its expression is epigenetically regulated by DNA methylation and histone modifications.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGEA4 Knockout HEK293 Cell Line | EDJ-KQ14172 | Human | 4103 | Details Get a Quote |
| MAGEA4 Knockout A-375 Cell Line | EDJ-KQ18108 | Human | 4103 | Details Get a Quote |
| MAGEA4 Knockout HeLa Cell Line | EDJ-KQ53827 | Human | 4103 | Details Get a Quote |
| MAGEA4 Knockout A-549 Cell Line | EDJ-KQ62310 | Human | 4103 | Details Get a Quote |
| MAGEA4 Knockout HCT 116 Cell Line | EDJ-KQ70788 | Human | 4103 | Details Get a Quote |
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