MAGEB17 (MAGE Family Member B17)
A cancer/testis antigen with potential roles in tumor immunology and spermatogenesis
Gene Information Card
| Symbol | MAGEB17 |
|---|---|
| Full Name | MAGE family member B17 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.22 |
| NCBI Gene ID | 139163 ncbi.nlm.nih.gov/gene/139163 |
| Ensembl ID | ENSG00000185332 |
| UniProt ID | Q96M61 |
| OMIM ID | 300764 |
| HGNC ID | 23961 |
| Aliases | MAGE-B17, MAGEB17A |
Description
MAGEB17 is a member of the MAGE (Melanoma Antigen) family, specifically the MAGE-B subfamily. It is a cancer/testis antigen (CTA) predominantly expressed in testis and various cancers. The gene is located on the X chromosome and encodes a protein of unknown function, but it is implicated in tumor immunology and potentially in spermatogenesis. Its expression in tumors may make it a target for cancer immunotherapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Aberrant expression in tumors; potential role in tumor progression and immune evasion | Expression observed in multiple cancer types; not yet fully characterized |
| Male infertility (potential) | Expression in testis suggests role in spermatogenesis; disruption may affect fertility | Limited evidence; based on expression pattern |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | High expression (based on RNA-seq data from GTEx, but nTPM not specified) |
| Other tissues | Not available | Low or no expression in normal tissues |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cancer cell lines | Not available | Expressed in some cancer cell lines; specific nTPM not documented |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No common variants reported | Not applicable | Not applicable | No significant mutation data in COSMIC or ClinVar |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations in MAGEB17.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Molecular Function: Not yet annotated | • Biological Process: Not yet annotated |
| • Cellular Component: Not yet annotated |
Pathways
• No specific pathways are currently associated with MAGEB17.
Protein Summary
The MAGEB17 protein is a member of the MAGE family, characterized by the MAGE homology domain (MHD). Its exact function is unknown, but like other MAGE proteins, it may interact with E3 ubiquitin ligases and modulate cellular processes such as apoptosis and cell cycle. Its restricted expression in testis and cancer suggests a role in germ cell development and tumor biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGEB17 Knockout HEK293 Cell Line | EDJ-KQ13388 | Human | 645864 | Details Get a Quote |
| MAGEB17 Knockout HCT 116 Cell Line | EDJ-KQ44108 | Human | 645864 | Details Get a Quote |
| MAGEB17 Knockout HeLa Cell Line | EDJ-KQ60595 | Human | 645864 | Details Get a Quote |
| MAGEB17 Knockout A-549 Cell Line | EDJ-KQ69065 | Human | 645864 | Details Get a Quote |
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