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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GAGE1
G antigen 1
Chromosome X · Xp11.23
NCBI Gene: 2543Ensembl: ENSG00000205777.19HGNC: HGNC:4098UniProt: A0A158RFV5
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Swiss-Prot Reviewed
molecular_functionbiological_processcellular_componentVitiligohepatocellular carcinomaneoplasmcarcinoma of liver and intrahepatic biliary tract
✦AI Summary

GAGE1 (G antigen 1) is a cancer-testis antigen encoded by a germ line-associated gene normally expressed in testicular spermatogonia but aberrantly re-expressed in various human malignancies 1. The protein functions as a tumor-associated antigen presented by HLA class I molecules and recognized by CD8+ cytolytic T lymphocytes 2, making it an ideal immunotherapy target due to its cancer-specific expression pattern with minimal expression in normal differentiated tissues 2. GAGE1 is frequently expressed across multiple cancer types. In head and neck squamous cell carcinoma (HNSCC), GAGE1 is expressed in 48.3% of samples and serves as an independent prognostic factor for overall survival; its expression correlates with lymph node metastasis and advanced clinical stage 3. GAGE1 expression has been documented in hepatocellular carcinoma cell lines 4, pancreatic cancer (47% of cell lines) 5, rhabdomyosarcoma (9%) 2, and testicular seminomas (10%) 1. In non-small cell lung cancer, GAGE1 is regulated by the circ_0016760/miR-1287 axis and promotes cell growth and metastasis 6. Clinically, GAGE1 expression is silenced in normal tissues through promoter methylation and can be reactivated by demethylating agents, potentially expanding immunotherapy candidate populations 5. Its tumor-specific expression pattern and immunogenic properties position GAGE1 as a promising biomarker for cancer prognosis and a molecular target for active immunotherapeutic approaches across multiple malignancies.

Sources cited
1
GAGE1 expressed in 48.3% of HNSCC samples; mRNA positivity is independent prognostic factor for overall survival and associated with lymph node metastasis
PMID: 29577858
2
GAGE genes encode tumor-associated antigens presented by HLA class I and recognized by CD8+ cytolytic T lymphocytes; silent in normal tissues except spermatogonia and placenta
PMID: 11391626
3
GAGE1 is germ line-associated gene normally expressed in testicular spermatogonia; found in 10% of classic seminomas but not non-seminomatous germ cell tumors
PMID: 24232866
4
In NSCLC, circ_0016760 regulates GAGE1 expression through miR-1287, promoting cell growth, metastasis, and inhibiting apoptosis
PMID: 30103946
5
GAGE1-2 mRNA expressed in hepatocellular carcinoma cell lines but not in normal biopsied liver tissues
PMID: 14607688
6
GAGE1-8 expression detected in 47% of pancreatic cancer cell lines; promoter methylation silences expression which can be reactivated by demethylating agents
PMID: 12123095
7
GAGE expression in esophageal and gastric carcinomas is associated with poor prognosis
PMID: 11346870
8
GAGE1 is a cancer-testis antigen evaluated in epigenetic analysis of pulmonary metastases as potential therapeutic target
PMID: 26298164
Disease Associationsⓘ20
VitiligoOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.02Suggestive
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.02Suggestive
head and neck squamous cell carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
salivary gland cancerOpen Targets
0.01Suggestive
thyroid cancerOpen Targets
0.01Suggestive
hyperplasiaOpen Targets
0.01Suggestive
nodular goiterOpen Targets
0.01Suggestive
laryngotracheoesophageal cleftOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
posterior cortical atrophyOpen Targets
0.01Suggestive
chromophobe renal cell carcinomaOpen Targets
0.00Suggestive
ependymomaOpen Targets
0.00Suggestive
hematopoietic and lymphoid cell neoplasmOpen Targets
0.00Suggestive
multiple myelomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SMIM46Shared pathway100%C8orf90Shared pathway100%SMIM44Shared pathway100%C21orf140Shared pathway100%CIMIP7Shared pathway100%ZNF862Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Ovary
0%
Lung
0%
Heart
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
GAGE1SMIM46C8orf90SMIM44C21orf140CIMIP7ZNF862
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P0DTW1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
2.11LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF1.00 [0.52–2.11]
RankingsWhere GAGE1 stands among ~20K protein-coding genes
  • #13,420of 20,598
    Most Researched23
  • #17,847of 17,882
    Most Constrained (LOEUF)2.11
Genes detectedGAGE1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Expression and Prognostic Relevance of GAGE1 and XAGE1 Cancer/Testis Antigens in Head and Neck Squamous Cell Carcinoma.
PMID: 29577858
Curr Mol Med · 2017
1.00
2
MAGE, BAGE and GAGE gene expression in human rhabdomyosarcomas.
PMID: 11391626
Int J Cancer · 2001
0.90
3
Cancer testis antigen expression in testicular germ cell tumorigenesis.
PMID: 24232866
Mod Pathol · 2014
0.80
4
Upregulated circular RNA circ_0016760 indicates unfavorable prognosis in NSCLC and promotes cell progression through miR-1287/GAGE1 axis.
PMID: 30103946
Biochem Biophys Res Commun · 2018
0.70
5
Expression of A, G and B melanoma antigen genes in human hepatocellular carcinoma.
PMID: 14607688
Hepatobiliary Pancreat Dis Int · 2002
0.60