GAGE12J: A Cancer/Testis Antigen with Potential Roles in Tumor Immunity and Development

Explore the genomic context, expression patterns, and clinical significance of the GAGE12J gene, a member of the GAGE family of cancer/testis antigens.

Gene Information Card

Symbol GAGE12J
Full Name G antigen 12J
Gene Type protein coding
Chromosomal Location Xp11.23
NCBI Gene ID 100288494 ncbi.nlm.nih.gov/gene/100288494
Ensembl ID ENSG00000205544
UniProt ID Q5JTY5
OMIM ID 300795
HGNC ID 31895
Aliases GAGE-12J, CT4.12J

Description

GAGE12J is a member of the GAGE family of cancer/testis antigens, encoded on chromosome Xp11.23. These proteins are normally expressed in testis but are aberrantly expressed in various cancers, making them attractive targets for immunotherapy. GAGE12J shares high sequence homology with other GAGE family members and is involved in protein-protein interactions that may influence cellular processes such as apoptosis and cell cycle regulation. Its restricted normal expression and tumor-associated expression profile highlight its potential as a diagnostic and therapeutic biomarker.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Aberrant expression in tumors; potential role in immune evasion and tumor progression Expression detected in melanoma, lung, breast, and other cancers (COSMIC, literature)
Testicular germ cell tumors Normal testis expression; may contribute to tumor immunogenicity GAGE family expression in testicular tumors (literature)

Expression Profile

Tissue Expression
Tissue nTPM level
Testis Not available (nTPM from GTEx not specific for GAGE12J) High expression expected (cancer/testis antigen)
Other tissues Not available Low or absent in normal somatic tissues
Cell Line Expression
Cell Line nTPM Notes
Cancer cell lines (e.g., melanoma, lung) Not available Expression detected in various cancer cell lines (COSMIC)
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No specific variants curated N/A N/A N/A
Mutation functional classification

Loss of Function (LOF)

Not characterized; no known loss-of-function mutations reported.

Gain of Function (GOF)

Not characterized; overexpression in tumors may confer growth advantage.

Dominant Negative (DN)

Not characterized; no evidence for dominant-negative effects.

Gene Ontology (GO)

• protein binding • cytoplasm
• nucleus

Pathways

Not specifically curated; GAGE family may influence apoptosis and cell cycle pathways.

Protein Summary

The GAGE12J protein is a small, highly basic protein with no known enzymatic activity. It contains a characteristic GAGE domain and is localized to the cytoplasm and nucleus. Its function is not fully understood, but it is thought to interact with other proteins to modulate cellular processes. Due to its cancer/testis expression pattern, it is considered a potential target for cancer vaccines and immunotherapies.

Related Products

Product name Cat.No. Species Gene ID
GAGE12J Knockout HEK293 Cell Line EDJ-KQ2321 Human 729396 Details Get a Quote
GAGE12J Knockout HeLa Cell Line EDJ-KQ60748 Human 729396 Details Get a Quote
GAGE12J Knockout A-549 Cell Line EDJ-KQ69217 Human 729396 Details Get a Quote
GAGE12J Knockout HCT 116 Cell Line EDJ-KQ77574 Human 729396 Details Get a Quote
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