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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CTAGE4
CTAGE family member 4
Chromosome 7 Β· 7q35
NCBI Gene: 100128553Ensembl: ENSG00000288784.1HGNC: HGNC:24772UniProt: Q8IX94
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulum to Golgi vesicle-mediated transportprotein secretionvesicle cargo loadingendoplasmic reticulum membranefamilial hypercholesterolemiahypertriglyceridemia 2pancreatic triacylglycerol lipase deficiencyplacenta praevia
✦AI Summary

CTAGE4 is a tumor-associated antigen belonging to the CTAGE gene family with expression patterns suggesting roles in cancer and development. The protein localizes to the endoplasmic reticulum (ER) and participates in ER-to-Golgi vesicle-mediated transport and protein secretion pathways, indicating involvement in secretory protein trafficking [GO annotations]. CTAGE4 demonstrates tumor-specific expression and generates serologic responses in cancer patients, including those with cutaneous T cell lymphoma and melanoma, suggesting immunogenic properties 1. Notably, CTAGE4 expression is upregulated in triple-negative breast cancer cells treated with combinatorial JQ1 and GSK2801 therapy, indicating involvement in drug-responsive transcriptional networks 2. Beyond cancer, CTAGE4 genetic variants have been associated with severe retinopathy of prematurity in preterm infants 3 and implicated in rare multisystemic disorders involving growth retardation, intellectual disability, and hepatopathy 4, suggesting broader developmental significance. The gene represents a candidate for cancer immunotherapy development given its tumor-specific expression pattern and ability to elicit immune responses, though its precise mechanistic role in disease pathogenesis remains incompletely characterized.

Sources cited
1
CTAGE4 is a tumor-associated antigen with tumor-restricted expression and generates serologic responses in cancer patients
PMID: 12839582
2
CTAGE4 expression is upregulated in triple-negative breast cancer cells treated with JQ1 and GSK2801 combination therapy
PMID: 35672711
3
CTAGE4 genetic polymorphisms are associated with severe retinopathy of prematurity in preterm infants
PMID: 40084286
4
CTAGE4 mutations are implicated in multisystemic growth retardation, intellectual disability, joint contracture, and hepatopathy
PMID: 30431579
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
familial hypercholesterolemiaOpen Targets
0.06Suggestive
hypertriglyceridemia 2Open Targets
0.06Suggestive
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.05Suggestive
placenta praeviaOpen Targets
0.05Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.04Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.04Suggestive
fish eye diseaseOpen Targets
0.04Suggestive
Fish-eye diseaseOpen Targets
0.04Suggestive
sitosterolemia 2Open Targets
0.04Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.04Suggestive
hypercholesterolemia, autosomal dominant, 3Open Targets
0.04Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.03Suggestive
Hyperlipoproteinemia type 1Open Targets
0.03Suggestive
hypercholesterolemia, autosomal dominant, type BOpen Targets
0.03Suggestive
chylomicron retention diseaseOpen Targets
0.03Suggestive
microcephaly-congenital cataract-psoriasiform dermatitis syndromeOpen Targets
0.03Suggestive
familial hypobetalipoproteinemia 1Open Targets
0.03Suggestive
obesityOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
MIA2Shared pathway100%CTAGE1Shared pathway100%CTAGE6Shared pathway100%CTAGE15Shared pathway100%CTAGE9Shared pathway100%CTAGE8Shared pathway100%
Tissue Expression4 tissues
Bone Marrow
0%
Lung
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
CTAGE4MIA2CTAGE1CTAGE6CTAGE15CTAGE9CTAGE8
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q8IX94
View on AlphaFold β†—
RankingsWhere CTAGE4 stands among ~20K protein-coding genes
  • #17,565of 20,598
    Most Researched8
Genes detectedCTAGE4
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Synergistic anti-proliferative activity of JQ1 and GSK2801 in triple-negative breast cancer.
PMID: 35672711
BMC Cancer Β· 2022
1.00
2
Identification of genetic factors underlying severe retinopathy of prematurity in preterm infants.
PMID: 40084286
Mol Vis Β· 2025
0.75
3
Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.
PMID: 30431579
Medicine (Baltimore) Β· 2018
0.50
4
cTAGE: a cutaneous T cell lymphoma associated antigen family with tumor-specific splicing.
PMID: 12839582
J Invest Dermatol Β· 2003
0.25