MAGEB18
MAGE Family Member B18
Gene Information Card
| Symbol | MAGEB18 |
|---|---|
| Full Name | MAGE family member B18 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp21.3 |
| NCBI Gene ID | 286514 ncbi.nlm.nih.gov/gene/286514 |
| Ensembl ID | ENSG00000182372 |
| UniProt ID | Q96M61 |
| OMIM ID | 300764 |
| HGNC ID | 23799 |
| Aliases | MAGE-B18, MAGEB18A, MAGEB18B |
Description
MAGEB18 is a member of the melanoma-associated antigen (MAGE) family, specifically the MAGE-B subfamily. It is a cancer-testis antigen (CTA) with predominant expression in testis and placenta, and aberrant expression in various cancers. The protein is involved in protein-protein interactions and may play a role in cell cycle regulation and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Aberrant expression of MAGEB18 as a cancer-testis antigen may promote tumor growth through interaction with E3 ubiquitin ligases and regulation of p53 pathway. | COSMIC; literature |
| Testicular germ cell tumors | Overexpression of MAGEB18 in testicular tumors suggests a role in germ cell transformation. | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Placenta | 8.3 | Low |
| Brain | 0.2 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 15.2 | High expression |
| HeLa (cervical carcinoma) | 0.5 | Low expression |
| A549 (lung carcinoma) | 0.3 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.245C>T (p.Pro82Leu) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
MAGEB18 loss-of-function mutations are rare and not well characterized; may impair protein-protein interactions.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • protein binding | • ubiquitin protein ligase binding |
| • cytoplasm | • nucleus |
Pathways
• p53 signaling pathway (via interaction with MDM2)
• Ubiquitin-proteasome pathway
Protein Summary
MAGEB18 is a 346-amino acid protein containing a conserved MAGE homology domain (MHD). It localizes to both cytoplasm and nucleus and interacts with E3 ubiquitin ligases, potentially modulating p53 stability. As a cancer-testis antigen, it is a target for cancer immunotherapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGEB18 Knockout HEK293 Cell Line | EDJ-KQ14178 | Human | 286514 | Details Get a Quote |
| MAGEB18 Knockout HeLa Cell Line | EDJ-KQ59559 | Human | 286514 | Details Get a Quote |
| MAGEB18 Knockout A-549 Cell Line | EDJ-KQ68026 | Human | 286514 | Details Get a Quote |
| MAGEB18 Knockout HCT 116 Cell Line | EDJ-KQ76406 | Human | 286514 | Details Get a Quote |
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