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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TDG
thymine DNA glycosylase
Chromosome 12 · 12q23.3
NCBI Gene: 6996Ensembl: ENSG00000139372.15HGNC: HGNC:11700UniProt: B4DI29
122PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
magnesium ion bindinguracil DNA N-glycosylase activityprotein bindingATP bindingvenous thromboembolismHereditary breast and ovarian cancer syndromehereditary breast ovarian cancer syndromecolorectal carcinoma
✦AI Summary

TDG (thymine DNA glycosylase) is a DNA repair enzyme that plays crucial roles in both base excision repair and active DNA demethylation. As a DNA glycosylase, TDG specifically recognizes and excises 5-formylcytosine (5fC) and 5-carboxylcytosine (5caC) from CpG sites, facilitating active DNA demethylation through the base excision repair pathway 1. This demethylation process involves TET dioxygenase-mediated oxidation of 5-methylcytosine to intermediate forms, followed by TDG-dependent excision and repair to restore unmethylated cytosine 1. TDG also functions in traditional DNA repair by correcting G/T mispairs that arise from spontaneous deamination of 5-methylcytosine to thymine, though this role is secondary to its demethylation function. The enzyme generates endogenous single-strand breaks during active demethylation, particularly in neurons where it targets enhancer regions 2. Beyond DNA repair, TDG has emerging roles in gene regulation and cellular signaling. Recent research demonstrates that TDG mediates pro-tumor macrophage polarization through DNA demethylation regulated by p53 signaling, contributing to immune evasion in breast cancer 3. TDG activity can be exploited therapeutically, as disruption of its gap-filling process triggers DNA damage responses that can be leveraged in cancer treatment strategies 2.

Sources cited
1
TDG mediates active DNA demethylation by excising 5fC and 5caC through base excision repair
PMID: 28555658
2
TDG-driven excision creates endogenous single-strand breaks in neurons and can trigger DNA damage responses
PMID: 36454826
3
TDG promotes pro-tumor macrophage polarization through DNA demethylation regulated by p53 signaling in breast cancer
PMID: 40185095
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
venous thromboembolismOpen Targets
0.27Weak
Hereditary breast and ovarian cancer syndromeOpen Targets
0.12Weak
hereditary breast ovarian cancer syndromeOpen Targets
0.12Weak
colorectal carcinomaOpen Targets
0.09Suggestive
melanomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
familial dysfibrinogenemiaOpen Targets
0.05Suggestive
familial hypofibrinogenemiaOpen Targets
0.05Suggestive
congenital factor X deficiencyOpen Targets
0.05Suggestive
papillary thyroid carcinomaOpen Targets
0.04Suggestive
cancerOpen Targets
0.03Suggestive
intestinal neoplasmOpen Targets
0.03Suggestive
left ventricular noncompactionOpen Targets
0.03Suggestive
cervical squamous intraepithelial neoplasiaOpen Targets
0.03Suggestive
esophageal cancerOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
adenomaOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TP53Protein interaction100%XRCC1Protein interaction100%FEN1Protein interaction100%SUMO1Protein interaction100%EP300Protein interaction97%TET2Protein interaction95%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
99%
Liver
98%
Brain
94%
Lung
93%
Heart
54%
Gene Interaction Network
Click a node to explore
TDGTP53XRCC1FEN1SUMO1EP300TET2
PROTEIN STRUCTURE
Preparing viewer…
PDB4Z47 · 1.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.42–0.81]
RankingsWhere TDG stands among ~20K protein-coding genes
  • #3,868of 20,598
    Most Researched122 · top quartile
  • #6,809of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedTDG
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cancer cell-derived arginine fuels polyamine biosynthesis in tumor-associated macrophages to promote immune evasion.
PMID: 40185095
Cancer Cell · 2025
1.00
2
Mechanisms of ketamine action as an antidepressant.
PMID: 29532791
Mol Psychiatry · 2018
0.90
3
TET-mediated active DNA demethylation: mechanism, function and beyond.
PMID: 28555658
Nat Rev Genet · 2017
0.80
4
Mechanisms of ketamine and its metabolites as antidepressants.
PMID: 34968492
Biochem Pharmacol · 2022
0.70
5
Personalized use of ketamine and esketamine for treatment-resistant depression.
PMID: 39613748
Transl Psychiatry · 2024
0.60