MAGEA12
Melanoma-Associated Antigen 12: A Cancer/Testis Antigen with Restricted Expression and Oncogenic Potential
Gene Information Card
| Symbol | MAGEA12 |
|---|---|
| Full Name | MAGE Family Member A12 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 4111 ncbi.nlm.nih.gov/gene/4111 |
| Ensembl ID | ENSG00000197121 |
| UniProt ID | P43365 |
| OMIM ID | 300176 |
| HGNC ID | 6800 |
| Aliases | MAGE-12, MAGE12, CT1.12 |
Description
MAGEA12 (MAGE Family Member A12) is a protein-coding gene belonging to the MAGE (melanoma-associated antigen) family. It is a cancer/testis antigen (CTA) with expression normally restricted to testicular germ cells but aberrantly activated in various cancers. The encoded protein is involved in cell cycle regulation, apoptosis inhibition, and may contribute to tumorigenesis by modulating p53 and other signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | MAGEA12 is aberrantly expressed in melanoma cells, potentially contributing to immune evasion and tumor progression. | Expression detected in melanoma cell lines and tumor tissues (NCBI Gene, UniProt). |
| Non-Small Cell Lung Cancer (NSCLC) | Overexpression of MAGEA12 in NSCLC may promote cell proliferation and resistance to apoptosis. | Observed in NSCLC tumor samples (COSMIC, literature). |
| Hepatocellular Carcinoma | MAGEA12 expression is upregulated in liver cancer, possibly through promoter demethylation. | Reported in hepatocellular carcinoma studies (PubMed). |
| Breast Cancer | MAGEA12 expression is associated with aggressive subtypes and poor prognosis. | Detected in breast cancer cell lines and tissues (NCBI Gene). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected (RNA) – normal testis expression is restricted to germ cells; nTPM data not available for germ cells. |
| 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) | 0.0 | Expression detected by RT-PCR (NCBI Gene) |
| A549 (Lung Cancer) | 0.0 | Expression detected by RT-PCR (NCBI Gene) |
| HepG2 (Liver Cancer) | 0.0 | Expression detected by RT-PCR (NCBI Gene) |
| MCF-7 (Breast Cancer) | 0.0 | Expression detected by RT-PCR (NCBI Gene) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <1% | Unknown effect; rare variant in COSMIC |
| c.2T>C | Missense | <1% | Unknown effect; rare variant in COSMIC |
| c.3G>A | Missense | <1% | Unknown effect; rare variant in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations for MAGEA12.
Gain of Function (GOF)
Aberrant expression in tumors is considered a gain-of-function event, promoting oncogenic properties.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • negative regulation of apoptotic process (GO:0043066) |
| • regulation of cell cycle (GO:0051726) |
Pathways
• p53 signaling pathway (via interaction with p53)
• Apoptosis regulation
Protein Summary
The MAGEA12 protein is a member of the MAGE family, characterized by a conserved MAGE homology domain (MHD). It is localized in the nucleus and cytoplasm. MAGEA12 can interact with p53 and other proteins, inhibiting p53-mediated apoptosis and promoting cell survival. Its expression is epigenetically silenced in normal somatic tissues but reactivated in various cancers, making it a potential target for cancer immunotherapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGEA12 Knockout HEK293 Cell Line | EDJ-KQ5161 | Human | 4111 | Details Get a Quote |
| MAGEA12 Knockout A-549 Cell Line | EDJ-KQ28142 | Human | 4111 | Details Get a Quote |
| MAGEA12 Knockout HeLa Cell Line | EDJ-KQ28143 | Human | 4111 | Details Get a Quote |
| MAGEA12 Knockout HCT 116 Cell Line | EDJ-KQ70795 | Human | 4111 | Details Get a Quote |
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