U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TDG thymine DNA glycosylase [ Homo sapiens (human) ]

Gene ID: 6996, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
TDGprovided by HGNC
Official Full Name
thymine DNA glycosylaseprovided by HGNC
Primary source
HGNC:HGNC:11700
See related
Ensembl:ENSG00000139372 MIM:601423; AllianceGenome:HGNC:11700
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
hTDG
Summary
The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in lymph node (RPKM 10.7), appendix (RPKM 8.9) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See TDG in Genome Data Viewer
Location:
12q23.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (103965872..103988874)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (103927571..103950593)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (104359650..104382652)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23584 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23591 Neighboring gene microRNA 3652 Neighboring gene heat shock protein 90 beta family member 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104350309-104350822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6905 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 6 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23620 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23681 Neighboring gene glycosyltransferase 8 domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:104408145-104408367 Neighboring gene phosphoglycerate mutase 1 (brain) pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23711 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4784 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:104458005-104458174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4786 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23722 Neighboring gene host cell factor C2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Comprehensive analysis of the prognostic value and biological function of TDG in hepatocellular carcinoma. Wang G, et al. Cell Cycle, 2023 Jun. PMID 37224078,
  2. Direct and Base Excision Repair-Mediated Regulation of a GC-Rich cis-Element in Response to 5-Formylcytosine and 5-Carboxycytosine. Müller N, et al. Int J Mol Sci, 2021 Oct 13. PMID 34681690, Free PMC Article
  3. Reversible chromatin condensation by the DNA repair and demethylation factor thymine DNA glycosylase. Deckard CE, et al. Nucleic Acids Res, 2021 Mar 18. PMID 33733652, Free PMC Article
  4. Effect of the thymine-DNA glycosylase rs4135050 variant on Saudi smoker population. Almutairi M, et al. Mol Genet Genomic Med, 2019 Apr. PMID 30779328, Free PMC Article
  5. Thymine DNA glycosylase as a novel target for melanoma. Mancuso P, et al. Oncogene, 2019 May. PMID 30674989, Free PMC Article

See all (118) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Comprehensive analysis of the prognostic value and biological function of TDG in hepatocellular carcinoma.
    Title: Comprehensive analysis of the prognostic value and biological function of TDG in hepatocellular carcinoma.
  2. TDG suppresses the migration and invasion of human colon cancer cells via the DNMT3A/TIMP2 axis.
    Title: TDG suppresses the migration and invasion of human colon cancer cells via the DNMT3A/TIMP2 axis.
  3. Direct and Base Excision Repair-Mediated Regulation of a GC-Rich cis-Element in Response to 5-Formylcytosine and 5-Carboxycytosine.
    Title: Direct and Base Excision Repair-Mediated Regulation of a GC-Rich cis-Element in Response to 5-Formylcytosine and 5-Carboxycytosine.
  4. Reversible chromatin condensation by the DNA repair and demethylation factor thymine DNA glycosylase.
    Title: Reversible chromatin condensation by the DNA repair and demethylation factor thymine DNA glycosylase.
  5. lncRNA H19 contributes to oxidative damage repair in the early age-related cataract by regulating miR-29a/TDG axis.
    Title: lncRNA H19 contributes to oxidative damage repair in the early age-related cataract by regulating miR-29a/TDG axis.
  6. TDG is expressed in melanoma and plays a role in cell cycle and cell proliferation.
    Title: Thymine DNA glycosylase as a novel target for melanoma.
  7. Effect of sumoylation on the rate of base excision by TDG.
    Title: Defining the impact of sumoylation on substrate binding and catalysis by thymine DNA glycosylase.
  8. Data show that after replacing the thymine DNA glycosylase (TDG) residue Gly142 with tyrosine, the thymine release is delayed compared to the wild-type (wt) TDG.
    Title: Dynamics of the excised base release in thymine DNA glycosylase during DNA repair process.
  9. TDG rs4135050 is associated with cigarette smoking in Saudi population.
    Title: Effect of the thymine-DNA glycosylase rs4135050 variant on Saudi smoker population.
  10. The authors confirm direct NEIL1 TDG binding and NEIL1 mediated 2'-deoxyribose excision downstream of TDG glycosylase activity. NEIL1 acts not only downstream of TDG, but also enhances TDG activity on 5-formylcytosine or 5-carboxylcytosine containing DNA.
    Title: Nei-like 1 (NEIL1) excises 5-carboxylcytosine directly and stimulates TDG-mediated 5-formyl and 5-carboxylcytosine excision.
Submit: New GeneRIF Correction See all GeneRIFs (67)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA N-glycosylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA N-glycosylase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables DNA N-glycosylase activity TAS
Traceable Author Statement
more info
  
enables DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables DNA-binding transcription factor binding IEA
Inferred from Electronic Annotation
more info
  
enables G/T mismatch-specific thymine-DNA glycosylase activity IEA
Inferred from Electronic Annotation
more info
  
enables G/U mismatch-specific uracil-DNA glycosylase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables SUMO binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables chloride ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables damaged DNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables mismatched DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables nucleic acid binding EXP
Inferred from Experiment
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IEA
Inferred from Electronic Annotation
more info
  
enables protein kinase C binding IEA
Inferred from Electronic Annotation
more info
  
enables pyrimidine-specific mismatch base pair DNA N-glycosylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables pyrimidine-specific mismatch base pair DNA N-glycosylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables pyrimidine-specific mismatch base pair DNA N-glycosylase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables sodium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription coregulator activity IEA
Inferred from Electronic Annotation
more info
  
enables uracil DNA N-glycosylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables uracil DNA N-glycosylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA demethylation TAS
Traceable Author Statement
more info
  
involved_in base-excision repair IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in base-excision repair, AP site formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in depyrimidination TAS
Traceable Author Statement
more info
  
involved_in epigenetic regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of embryonic development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in PML body IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

Go to the top of the page Help
Preferred Names
G/T mismatch-specific thymine DNA glycosylase
NP_001350541.1
NP_003202.3
XP_047285442.1
XP_047285443.1
XP_047285444.1
XP_047285445.1
XP_054229082.1
XP_054229083.1
XP_054229084.1
XP_054229085.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001363612.2 → NP_001350541.1  G/T mismatch-specific thymine DNA glycosylase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC078819, AK303631
    Consensus CDS
    CCDS86330.1
    UniProtKB/TrEMBL
    B4E127
    Related
    ENSP00000445899.1, ENST00000544861.5
    Conserved Domains (1) summary
    cl00483
    Location:1 → 186
    UDG_like; Uracil-DNA glycosylases (UDG) and related enzymes

  2. NM_003211.6 → NP_003202.3  G/T mismatch-specific thymine DNA glycosylase isoform 1

    See identical proteins and their annotated locations for NP_003202.3

    Status: REVIEWED

    Source sequence(s)
    AI004247, AK303631, BC037557, DN601672
    Consensus CDS
    CCDS9095.1
    UniProtKB/Swiss-Prot
    Q13569, Q8IUZ6, Q8IZM3
    UniProtKB/TrEMBL
    B2R848
    Related
    ENSP00000376611.3, ENST00000392872.8
    Conserved Domains (1) summary
    TIGR00584
    Location:2 → 329
    mug; mismatch-specific thymine-DNA glycosylate (mug)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    103965872..103988874
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429486.1 → XP_047285442.1  G/T mismatch-specific thymine DNA glycosylase isoform X1

    UniProtKB/TrEMBL
    G8JL98
    Related
    ENSP00000266775.9, ENST00000266775.13

  2. XM_047429488.1 → XP_047285444.1  G/T mismatch-specific thymine DNA glycosylase isoform X2

    UniProtKB/TrEMBL
    B4E127

  3. XM_047429487.1 → XP_047285443.1  G/T mismatch-specific thymine DNA glycosylase isoform X2

    UniProtKB/TrEMBL
    B4E127

  4. XM_047429489.1 → XP_047285445.1  G/T mismatch-specific thymine DNA glycosylase isoform X3

    UniProtKB/TrEMBL
    B4DI29

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    103927571..103950593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373107.1 → XP_054229082.1  G/T mismatch-specific thymine DNA glycosylase isoform X1

    UniProtKB/TrEMBL
    G8JL98

  2. XM_054373109.1 → XP_054229084.1  G/T mismatch-specific thymine DNA glycosylase isoform X2

    UniProtKB/TrEMBL
    B4E127

  3. XM_054373108.1 → XP_054229083.1  G/T mismatch-specific thymine DNA glycosylase isoform X2

    UniProtKB/TrEMBL
    B4E127

  4. XM_054373110.1 → XP_054229085.1  G/T mismatch-specific thymine DNA glycosylase isoform X3

    UniProtKB/TrEMBL
    B4DI29

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001008411.1: Suppressed sequence

    Description
    NM_001008411.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13569.2 GenPept UniProtKB/Swiss-Prot:Q13569

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous