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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CAGE1
cancer antigen 1
Chromosome 6 · 6p24.3
NCBI Gene: 285782Ensembl: ENSG00000164304.16HGNC: HGNC:21622UniProt: Q8TC20
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingAlzheimer diseasepolycystic ovary syndromeliver diseaseneoplasm
✦AI Summary

CAGE1 (cancer antigen 1) is a cancer-testis antigen located on chromosome 6 with protein binding capacity. As a cancer-testis antigen, CAGE1 is predominantly expressed in testicular tissue with restricted normal tissue distribution, making it a candidate immunotherapy target 1. In canine melanoma studies, CAGE1 showed only weak or absent expression in oral melanoma, distinguishing it from other CTAs like MAGE and PRAME 1. In spermatogenesis, CAGE1 was identified as a potential key regulatory gene downstream of piR-1207 and piR-2107, suggesting involvement in sperm motility and morphology 2. CAGE1 also functions as a transcriptional regulatory element; it was identified as a conserved genomic region (Cage1) capable of potently inducing FOXP3 expression when targeted by CRISPRa-mediated transcriptional activation, with therapeutic implications for immune modulation 3. Clinically, CAGE1 has relevance as a tumor-associated autoantigen in gastric cancer, where serum anti-CAGE1 autoantibodies are elevated and contribute to diagnostic panels (AUC=0.885 with six other autoantibodies) 4. CAGE1 was also identified among concurrent mutations in pulmonary benign metastasizing leiomyoma and early placental villi, indicating broader tissue involvement 5, 6. Rare deletions of CAGE1 have been associated with intellectual disability and dysmorphic features 7.

Sources cited
1
CAGE1 is a cancer-testis antigen with restricted testicular expression in healthy tissues; showed weak or absent expression in canine oral melanoma
PMID: 40359694
2
CAGE1 identified as potential key regulatory gene in spermatogenesis, involved in sperm motility and morphology downstream of piR-1207/2107
PMID: 35791046
3
Cage1 identified as a potent transcriptional regulatory region capable of inducing FOXP3 expression via CRISPRa-mediated activation
PMID: 31832140
4
CAGE1 is a tumor-associated autoantigen; serum anti-CAGE1 autoantibodies elevated in gastric cancer and contribute to diagnostic autoantibody panel
PMID: 39900126
5
CAGE1 mutations identified in concurrent analysis of uterine leiomyoma and pulmonary benign metastasizing leiomyoma
PMID: 36948524
6
CAGE1 expressed in early placental villi during 6-8 weeks gestation; protein expression validated by immunochemical analysis
PMID: 24604048
7
CAGE1 deletion in 6p25.1p24.3 region associated with intellectual disability and dysmorphic facial features in two patients
PMID: 23183317
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.26Weak
polycystic ovary syndromeOpen Targets
0.26Weak
liver diseaseOpen Targets
0.25Weak
neoplasmOpen Targets
0.09Suggestive
clavicle fractureOpen Targets
0.08Suggestive
shoulder fractureOpen Targets
0.08Suggestive
anal neoplasmOpen Targets
0.06Suggestive
colonic neoplasmOpen Targets
0.06Suggestive
rectal neoplasmOpen Targets
0.06Suggestive
Nijmegen breakage syndromeOpen Targets
0.06Suggestive
osteosarcomaOpen Targets
0.04Suggestive
brain compressionOpen Targets
0.02Suggestive
edemaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
myeloid leukemiaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CTAG1BProtein interaction84%CNDP2Protein interaction79%RAB11BProtein interaction76%DKKL1Protein interaction76%
Tissue Expression6 tissues
Brain
100%
Ovary
50%
Liver
50%
Lung
25%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CAGE1CTAG1BCNDP2RAB11BDKKL1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TC20
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.46–0.79]
RankingsWhere CAGE1 stands among ~20K protein-coding genes
  • #14,115of 20,598
    Most Researched20
  • #6,550of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedCAGE1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cancer-testis antigen expression in canine melanoma and healthy tissues.
PMID: 40359694
Vet Immunol Immunopathol · 2025
1.00
2
Transcriptomic landscape of GC-2spd(ts) cell in response to the downregulation of piR-1207/2107.
PMID: 35791046
Andrologia · 2022
0.90
3
CRISPRa-mediated
PMID: 31832140
Cell Biosci · 2019
0.80
4
Whole exon capture sequencing for identifying mutations associated with pulmonary benign metastasising leiomyoma.
PMID: 36948524
BMJ Case Rep · 2023
0.70
5
Expressional regulation of genes linked to immunity & programmed development in human early placental villi.
PMID: 24604048
Indian J Med Res · 2014
0.60