MAGEA8: Melanoma-Associated Antigen Family Member 8
Cancer/Testis Antigen with Restricted Expression in Normal Tissues and Aberrant Activation in Tumors
Gene Information Card
| Symbol | MAGEA8 |
|---|---|
| Full Name | MAGE family member A8 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 4107 ncbi.nlm.nih.gov/gene/4107 |
| Ensembl ID | ENSG00000170370 |
| UniProt ID | P43361 |
| OMIM ID | 300173 |
| HGNC ID | 6800 |
| Aliases | MAGE8, MAGE-8, MAGEA8A, CT1.8 |
Description
MAGEA8 (MAGE family member A8) is a protein-coding gene located on chromosome Xq28. It belongs to the MAGE-A subfamily of cancer/testis antigens (CTAs), which are normally expressed only in male germ cells but are aberrantly activated in various cancers. The encoded protein is involved in cell cycle regulation, apoptosis inhibition, and may serve as a target for cancer immunotherapy due to its tumor-restricted expression pattern.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | MAGEA8 is aberrantly expressed in melanoma cells, contributing to immune evasion and tumor progression. | PMID: 10562324 |
| Non-Small Cell Lung Cancer | Overexpression of MAGEA8 in NSCLC correlates with poor prognosis and resistance to chemotherapy. | PMID: 19164557 |
| Hepatocellular Carcinoma | MAGEA8 expression is reactivated in HCC and associated with aggressive tumor behavior. | PMID: 21779514 |
| Breast Cancer | MAGEA8 is expressed in a subset of breast cancers and may promote cell proliferation. | PMID: 23327982 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected (nTPM < 1) |
| Skin | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Breast | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 (Melanoma) | 15.2 | Moderate expression |
| A549 (Lung Cancer) | 8.7 | Low expression |
| HepG2 (Liver Cancer) | 6.3 | Low expression |
| MCF7 (Breast Cancer) | 4.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | p.Met1Val; potential start codon loss |
| c.287C>T | Nonsense | <0.1% | p.Arg96*; premature truncation |
| c.523G>A | Missense | <0.1% | p.Gly175Arg; unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar for MAGEA8.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; overexpression in tumors is considered aberrant activation.
Dominant Negative (DN)
No dominant-negative mutations described for MAGEA8.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • apoptotic process (GO:0006915) |
| • cell cycle (GO:0007049) | • negative regulation of apoptotic process (GO:0043066) |
Pathways
• REACT:14797 (Apoptosis modulation by MAGE family proteins)
• REACT:111102 (Cancer/testis antigen expression in tumors)
Protein Summary
MAGEA8 encodes a 334-amino acid protein belonging to the MAGE-A subfamily. The protein contains a conserved MAGE homology domain (MHD) and is localized to both the nucleus and cytoplasm. It interacts with E3 ubiquitin ligases such as TRIM28 to modulate p53 and other tumor suppressors, thereby inhibiting apoptosis and promoting cell survival. Due to its restricted expression in normal tissues (testis only) and frequent reactivation in cancers, MAGEA8 is considered a promising target for cancer immunotherapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGEA8 Knockout HEK293 Cell Line | EDJ-KQ5159 | Human | 4107 | Details Get a Quote |
| MAGEA8 Knockout HeLa Cell Line | EDJ-KQ53830 | Human | 4107 | Details Get a Quote |
| MAGEA8 Knockout A-549 Cell Line | EDJ-KQ62313 | Human | 4107 | Details Get a Quote |
| MAGEA8 Knockout HCT 116 Cell Line | EDJ-KQ70791 | Human | 4107 | Details Get a Quote |
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