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    TDG thymine DNA glycosylase [ Homo sapiens (human) ]

    Gene ID: 6996, updated on 10-Oct-2024

    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
    NEW
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    Genomic context

    See TDG in Genome Data Viewer
    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_000012.12Genomic 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    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_001363612.2NP_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:1186
      UDG_like; Uracil-DNA glycosylases (UDG) and related enzymes
    2. NM_003211.6NP_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:2329
      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

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      G8JL98
      Related
      ENSP00000266775.9, ENST00000266775.13
    2. XM_047429488.1XP_047285444.1  G/T mismatch-specific thymine DNA glycosylase isoform X2

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

      UniProtKB/TrEMBL
      B4E127
    4. XM_047429489.1XP_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_054373107.1XP_054229082.1  G/T mismatch-specific thymine DNA glycosylase isoform X1

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

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

      UniProtKB/TrEMBL
      B4E127
    4. XM_054373110.1XP_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.