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.

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 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
Displaying Records 1 To 4 Of 4 Records
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