CSAG2: Chondrosarcoma-Associated Gene 2 / Cancer/Testis Antigen Family Member
A cancer/testis antigen with restricted normal expression and aberrant activation in multiple malignancies, including chondrosarcoma and melanoma.
Gene Information Card
| Symbol | CSAG2 |
|---|---|
| Full Name | Chondrosarcoma Associated Gene 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 101060232 ncbi.nlm.nih.gov/gene/101060232 |
| Ensembl ID | ENSG00000214753 |
| UniProt ID | Q9Y5P4 |
| OMIM ID | 300640 |
| HGNC ID | 24297 |
| Aliases | CTAG2, CTAG2B, LAGE-1, LAGE1B, CSAGE2 |
Description
CSAG2 (chondrosarcoma associated gene 2) is a protein-coding gene located on chromosome Xq28. It belongs to the cancer/testis antigen (CTA) family, which are normally expressed only in testis germ cells but are aberrantly activated in various cancers. CSAG2 is also known as CTAG2, LAGE-1, and LAGE1B. Its expression is frequently observed in chondrosarcoma, melanoma, and other solid tumors, making it a potential target for cancer immunotherapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chondrosarcoma | Aberrant activation of CSAG2 in chondrocytes; contributes to tumor immune evasion through antigen presentation modulation. | NCBI Gene, COSMIC |
| Melanoma | Expression of CSAG2 as a cancer/testis antigen; recognized by cytotoxic T lymphocytes, suggesting immunogenicity. | UniProt, COSMIC |
| Lung Cancer | Ectopic expression reported; potential biomarker for immunotherapy response. | COSMIC, ClinVar |
| Ovarian Cancer | Upregulation in a subset of tumors; associated with poor prognosis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected (nTPM not available for CTA; RNA-seq typically shows no expression in normal tissues except testis) |
| Chondrosarcoma tumor | N/A | High (aberrant) |
| Melanoma tumor | N/A | High (aberrant) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-37 (melanoma) | N/A | Positive by RT-PCR (COSMIC) |
| U2OS (osteosarcoma) | N/A | Low expression |
| HT-1080 (fibrosarcoma) | N/A | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Potential start-loss; functional impact unknown |
| c.214C>T (p.Arg72Trp) | missense | <0.1% | Rare; no known functional effect |
| c.337G>A (p.Glu113Lys) | missense | <0.1% | Rare; no known functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • plasma membrane (GO:0005886) |
| • immune response (GO:0006955) | • peptide antigen binding (GO:0042605) |
Pathways
• Cancer/testis antigen presentation pathway
• Immune evasion in cancer
Protein Summary
CSAG2 encodes a 180-amino acid protein belonging to the cancer/testis antigen family. The protein is localized to the extracellular region and plasma membrane, and is involved in immune response and peptide antigen binding. It is normally silenced in somatic tissues but is re-expressed in various cancers, where it can be recognized by the immune system, making it a candidate for cancer vaccine development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSAG2 Knockout HEK293 Cell Line | EDJ-KQ6650 | Human | 102723547 | Details Get a Quote |
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