CSAG3
Chondrosarcoma Associated Gene 3 / Cancer/Testis Antigen Family Member
Gene Information Card
| Symbol | CSAG3 |
|---|---|
| Full Name | Chondrosarcoma Associated Gene 3 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 643846 ncbi.nlm.nih.gov/gene/643846 |
| Ensembl ID | ENSG00000198919 |
| UniProt ID | Q9Y5P6 |
| OMIM ID | 300654 |
| HGNC ID | 24296 |
| Aliases | CTAG2, CTAG3, LAGE-1, LAGE1B |
Description
CSAG3 (Chondrosarcoma Associated Gene 3) 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 but are aberrantly activated in various cancers. CSAG3 is also known as CTAG2, CTAG3, LAGE-1, or LAGE1B. Its protein product is involved in immune recognition and may serve as a target for cancer immunotherapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chondrosarcoma | Overexpression of CSAG3 in chondrosarcoma tissues suggests a role in tumorigenesis, possibly through immune evasion or cell proliferation pathways. | PubMed (limited reports); COSMIC |
| Melanoma | CSAG3 is expressed in melanoma cell lines and may contribute to tumor antigenicity. | COSMIC; UniProt |
| Lung Cancer | Aberrant expression of CSAG3 in lung cancer tissues has been reported, implicating it as a potential biomarker. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected (nTPM < 1) |
| Other tissues | 0.0 | Not detected (nTPM < 1) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Melanoma cell lines | 0.0 | Expression reported in some melanoma lines (e.g., SK-MEL) but nTPM data not available in GTEx |
| Chondrosarcoma cell lines | 0.0 | Expression reported in chondrosarcoma lines (e.g., SW1353) but nTPM data not available |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Not characterized; rare variant in population databases |
| c.100C>T | missense | <0.1% | Not characterized; rare variant in population databases |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported for CSAG3.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; overexpression in cancer may be due to epigenetic activation.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • molecular_function (GO:0003674) | • extracellular region (GO:0005576) |
| • extracellular space (GO:0005615) |
Pathways
• No specific pathways curated in Reactome or KEGG for CSAG3.
Protein Summary
CSAG3 encodes a 210-amino acid protein (UniProt Q9Y5P6) that is a member of the cancer/testis antigen family. The protein is localized to the extracellular region and may be secreted. It is normally expressed only in testis but is aberrantly expressed in several cancers, including chondrosarcoma, melanoma, and lung cancer. Its function is not fully characterized, but it is thought to play a role in immune recognition and tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSAG3 Knockout HEK293 Cell Line | EDJ-KQ13012 | Human | 389903 | Details Get a Quote |
| CSAG3 Knockout HCT 116 Cell Line | EDJ-KQ42270 | Human | 389903 | Details Get a Quote |
| CSAG3 Knockout HeLa Cell Line | EDJ-KQ60113 | Human | 389903 | Details Get a Quote |
| CSAG3 Knockout A-549 Cell Line | EDJ-KQ68575 | Human | 389903 | Details Get a Quote |
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