CSAG1: Chondrosarcoma-Associated Gene 1 / Cancer/Testis Antigen
A cancer/testis antigen with restricted expression in normal testis and aberrant activation in multiple tumor types, including melanoma and chondrosarcoma.
Gene Information Card
| Symbol | CSAG1 |
|---|---|
| Full Name | Chondrosarcoma-Associated Gene 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 158511 ncbi.nlm.nih.gov/gene/158511 |
| Ensembl ID | ENSG00000198908 |
| UniProt ID | Q9Y5P4 |
| OMIM ID | 300644 |
| HGNC ID | 24296 |
| Aliases | CT26, MGC20446 |
Description
CSAG1 (Chondrosarcoma-Associated Gene 1) is a protein-coding gene located on chromosome Xq28. It belongs to the cancer/testis antigen (CTA) family, characterized by predominant expression in normal testis and aberrant activation in various cancers, including chondrosarcoma and melanoma. The encoded protein is thought to play a role in tumorigenesis and immune evasion, making it a potential target for cancer immunotherapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chondrosarcoma | Aberrant expression of CSAG1 in chondrosarcoma tissues suggests a role in tumor development or progression. | NCBI Gene, PubMed |
| Melanoma | CSAG1 is expressed in a subset of melanomas and may serve as a cancer/testis antigen recognized by cytotoxic T lymphocytes. | NCBI Gene, PubMed |
| Lung Cancer | CSAG1 expression has been detected in non-small cell lung cancer samples, indicating potential as an immunotherapeutic target. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected (RNA) – restricted expression pattern typical of CT antigens |
| Skin | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Bone | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-5 (melanoma) | 0.0 | Expression reported in some melanoma cell lines; data not available in GTEx |
| U-2 OS (osteosarcoma) | 0.0 | No detectable expression in standard cell lines |
| NCI-H1299 (lung cancer) | 0.0 | Variable expression in lung cancer lines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Unknown | No functional data available |
| c.100C>T | Synonymous | Unknown | No known effect |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations for CSAG1.
Gain of Function (GOF)
No documented gain-of-function mutations for CSAG1.
Dominant Negative (DN)
No documented dominant-negative mutations for CSAG1.
View complete mutation data：
Gene Ontology (GO)
| • molecular_function (GO:0003674) | • cellular_component (GO:0005575) |
| • biological_process (GO:0008150) |
Protein Summary
The CSAG1 protein (UniProt Q9Y5P4) is a 113-amino acid polypeptide with no characterized functional domains. It is predicted to be localized in the cytoplasm. As a cancer/testis antigen, its expression is normally restricted to testicular germ cells but is reactivated in several tumor types, where it may contribute to immune recognition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSAG1 Knockout HEK293 Cell Line | EDJ-KQ13010 | Human | 158511 | Details Get a Quote |
| CSAG1 Knockout HeLa Cell Line | EDJ-KQ41027 | Human | 158511 | Details Get a Quote |
| CSAG1 Knockout A-549 Cell Line | EDJ-KQ42269 | Human | 158511 | Details Get a Quote |
| CSAG1 Knockout HCT 116 Cell Line | EDJ-KQ75669 | Human | 158511 | Details Get a Quote |
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