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.
View complete mutation data:
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 Services
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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