XAGE2: X Antigen Family Member 2
Cancer/testis antigen with potential roles in tumor immunology and diagnosis
Gene Information Card
| Symbol | XAGE2 |
|---|---|
| Full Name | X Antigen Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.22 |
| NCBI Gene ID | 9502 ncbi.nlm.nih.gov/gene/9502 |
| Ensembl ID | ENSG00000147180 |
| UniProt ID | Q9H7Z9 |
| OMIM ID | 300577 |
| HGNC ID | 4113 |
| Aliases | CTAG2, GAGED2, XAGE-2 |
Description
XAGE2 (X Antigen Family Member 2) is a protein-coding gene belonging to the XAGE/GAGE cancer/testis antigen family. It is predominantly expressed in normal testis and is aberrantly expressed in various cancers, including melanoma, lung cancer, and breast cancer. The encoded protein is thought to play a role in tumor immune recognition and may serve as a target for cancer immunotherapy. XAGE2 is located on chromosome Xp11.22 and is part of a cluster of related genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | XAGE2 expression in melanoma cells may elicit immune responses; potential target for immunotherapy | Expression detected in melanoma cell lines and tumor tissues (COSMIC, literature) |
| Non-small cell lung cancer | XAGE2 mRNA and protein are upregulated in NSCLC tissues compared to normal lung | Immunohistochemistry and RT-PCR studies (PubMed) |
| Breast cancer | XAGE2 is expressed in a subset of breast tumors, associated with hormone receptor status | Gene expression profiling (NCBI GEO) |
| Prostate cancer | XAGE2 expression reported in prostate cancer cell lines and tissues | RT-PCR and microarray data (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Lung | 0.2 | Not detected |
| Breast | 0.1 | Not detected |
| Skin | 0.3 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A375 (melanoma) | 8.2 | High expression |
| NCI-H1299 (lung cancer) | 6.7 | Moderate expression |
| MCF7 (breast cancer) | 4.1 | Low expression |
| PC3 (prostate cancer) | 5.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.1% | p.Met1Val; potential start codon loss |
| c.124C>T | Nonsense | 0.05% | p.Arg42*; premature truncation |
| c.205G>A | Missense | 0.08% | p.Gly69Ser; unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg42*) likely result in loss of protein function.
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)
| • extracellular region (GO:0005576) | • molecular_function (GO:0003674) |
| • biological_process (GO:0008150) |
Pathways
• No curated pathways in Reactome or KEGG
Protein Summary
The XAGE2 protein is a 111-amino acid member of the XAGE/GAGE family. It is localized to the cytoplasm and may be secreted. The protein contains a conserved domain of unknown function (DUF) and is predicted to be involved in cell-cell signaling. Its restricted expression in normal testis and re-expression in cancers makes it a candidate for cancer-testis antigen-based immunotherapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XAGE2 Knockout HEK293 Cell Line | EDJ-KQ6615 | Human | 9502 | Details Get a Quote |
| XAGE2 Knockout HeLa Cell Line | EDJ-KQ55182 | Human | 9502 | Details Get a Quote |
| XAGE2 Knockout A-549 Cell Line | EDJ-KQ63661 | Human | 9502 | Details Get a Quote |
| XAGE2 Knockout HCT 116 Cell Line | EDJ-KQ72122 | Human | 9502 | Details Get a Quote |
