TDG thymine DNA glycosylase [Homo sapiens (human)] - Gene

Summary

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
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Genomic context

Location:: 12q23.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (103965872..103988874)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (103927571..103950593)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (104359650..104382652)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
TDG rs4135050 is associated with cigarette smoking in Saudi population.
Title: Effect of the thymine-DNA glycosylase rs4135050 variant on Saudi smoker population.
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

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH76675 (e-PCR)
- UniSTS:92698

RH98792 (e-PCR)
- UniSTS:89157

GDB:451803 (e-PCR)
- UniSTS:157372

RH70430 (e-PCR)
- UniSTS:90619

RH48085 (e-PCR)
- UniSTS:91387

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 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 chromosomal 5-methylcytosine DNA demethylation, oxidation pathway	TAS Traceable Author Statement 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

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Preferred Names: G/T mismatch-specific thymine DNA glycosylase

NP_001350541.1

EC 3.2.2.29

NP_003202.3

EC 3.2.2.29

XP_047285442.1

EC 3.2.2.29

XP_047285443.1

EC 3.2.2.29

XP_047285444.1

EC 3.2.2.29

XP_047285445.1

EC 3.2.2.29

XP_054229082.1

EC 3.2.2.29

XP_054229083.1

EC 3.2.2.29

XP_054229084.1

EC 3.2.2.29

XP_054229085.1

EC 3.2.2.29

NCBI Reference Sequences (RefSeq)

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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)

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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

103965872..103988874

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

G8JL98

Related

ENSP00000266775.9, ENST00000266775.13
XM_047429488.1 → XP_047285444.1 G/T mismatch-specific thymine DNA glycosylase isoform X2

UniProtKB/TrEMBL

B4E127
XM_047429487.1 → XP_047285443.1 G/T mismatch-specific thymine DNA glycosylase isoform X2

UniProtKB/TrEMBL

B4E127
XM_047429489.1 → XP_047285445.1 G/T mismatch-specific thymine DNA glycosylase isoform X3

UniProtKB/TrEMBL

B4DI29

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

103927571..103950593

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

G8JL98
XM_054373109.1 → XP_054229084.1 G/T mismatch-specific thymine DNA glycosylase isoform X2

UniProtKB/TrEMBL

B4E127
XM_054373108.1 → XP_054229083.1 G/T mismatch-specific thymine DNA glycosylase isoform X2

UniProtKB/TrEMBL

B4E127
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

NM_001008411.1: Suppressed sequence

Description

NM_001008411.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.