MAGEB2
MAGE Family Member B2, a Cancer/Testis Antigen with Potential Roles in Spermatogenesis and Tumorigenesis
Gene Information Card
| Symbol | MAGEB2 |
|---|---|
| Full Name | MAGE Family Member B2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp21.3 |
| NCBI Gene ID | 4113 ncbi.nlm.nih.gov/gene/4113 |
| Ensembl ID | ENSG00000146856 |
| UniProt ID | O15479 |
| OMIM ID | 300097 |
| HGNC ID | 6810 |
| Aliases | MAGE-B2, MAGE2B, MGC133282 |
Description
MAGEB2 (MAGE Family Member B2) is a protein-coding gene located on the X chromosome. It belongs to the MAGE (Melanoma Antigen Gene) family, whose members are typically expressed in testis and various cancers, classifying them as cancer/testis antigens. MAGEB2 is involved in spermatogenesis and may play a role in tumorigenesis by modulating cell cycle and apoptosis. Its expression is largely restricted to testis in normal tissues but is aberrantly activated in several malignancies, making it a potential target for immunotherapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Aberrant expression of MAGEB2 in melanoma cells may promote tumor growth and immune evasion. | Expression profiling studies (e.g., NCBI GEO) |
| Lung Cancer | MAGEB2 overexpression in non-small cell lung cancer correlates with poor prognosis. | Immunohistochemistry and RT-PCR analyses |
| Breast Cancer | MAGEB2 is re-expressed in breast tumors and may contribute to oncogenesis. | Gene expression microarray data |
| Ovarian Cancer | MAGEB2 expression detected in ovarian cancer tissues, suggesting a role in tumor biology. | RNA-seq and qPCR studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.5 | High |
| Placenta | 1.2 | Low |
| Brain | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
| Heart | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.8 | Moderate expression |
| A549 (lung cancer) | 22.1 | High expression |
| SK-MEL-28 (melanoma) | 18.4 | High expression |
| HEK293 (embryonic kidney) | 0.5 | Low/not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon, likely loss of function |
| c.200C>T (p.Pro67Leu) | Missense | Rare | Unknown significance |
| c.350G>A (p.Arg117His) | Missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in MAGEB2.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in MAGEB2.
Dominant Negative (DN)
No evidence of dominant-negative mutations in MAGEB2.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • spermatogenesis (GO:0007283) |
| • negative regulation of apoptotic process (GO:0043066) |
Pathways
• Not assigned to any specific KEGG or Reactome pathway.
Protein Summary
MAGEB2 is a 314-amino acid protein belonging to the MAGE family. It contains a conserved MAGE homology domain (MHD) and is localized to the nucleus and cytoplasm. The protein is thought to interact with other cellular proteins to modulate transcription and apoptosis. Its restricted expression in normal testis and re-expression in various cancers makes it a candidate for cancer immunotherapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGEB2 Knockout HEK293 Cell Line | EDJ-KQ5162 | Human | 4113 | Details Get a Quote |
| MAGEB2 Knockout HCT 116 Cell Line | EDJ-KQ28144 | Human | 4113 | Details Get a Quote |
| MAGEB2 Knockout HeLa Cell Line | EDJ-KQ53834 | Human | 4113 | Details Get a Quote |
| MAGEB2 Knockout A-549 Cell Line | EDJ-KQ62318 | Human | 4113 | Details Get a Quote |
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