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Aliases for TDG Gene

Aliases for TDG Gene

  • Thymine DNA Glycosylase 2 3 5
  • G/T Mismatch-Specific Thymine DNA Glycosylase 2 3
  • HTDG 3 4
  • Thymine-DNA Glycosylase 4
  • EC 3.2.2.29 4

External Ids for TDG Gene

Previous GeneCards Identifiers for TDG Gene

  • GC12P103472
  • GC12P104240
  • GC12P102862
  • GC12P104359
  • GC12P101419

Summaries for TDG Gene

Entrez Gene Summary for TDG Gene

  • 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]

GeneCards Summary for TDG Gene

TDG (Thymine DNA Glycosylase) is a Protein Coding gene. Diseases associated with TDG include Toxic Diffuse Goiter and Miles-Carpenter Syndrome. Among its related pathways are Depyrimidination and SUMOylation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein domain specific binding.

UniProtKB/Swiss-Prot for TDG Gene

  • DNA glycosylase that plays a key role in active DNA demethylation: specifically recognizes and binds 5-formylcytosine (5fC) and 5-carboxylcytosine (5caC) in the context of CpG sites and mediates their excision through base-excision repair (BER) to install an unmethylated cytosine. Cannot remove 5-hydroxymethylcytosine (5hmC). According to an alternative model, involved in DNA demethylation by mediating DNA glycolase activity toward 5-hydroxymethyluracil (5hmU) produced by deamination of 5hmC. Also involved in DNA repair by acting as a thymine-DNA glycosylase that mediates correction of G/T mispairs to G/C pairs: in the DNA of higher eukaryotes, hydrolytic deamination of 5-methylcytosine to thymine leads to the formation of G/T mismatches. Its role in the repair of canonical base damage is however minor compared to its role in DNA demethylation. It is capable of hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of the DNA and a mispaired thymine. In addition to the G/T, it can remove thymine also from C/T and T/T mispairs in the order G/T >> C/T > T/T. It has no detectable activity on apyrimidinic sites and does not catalyze the removal of thymine from A/T pairs or from single-stranded DNA. It can also remove uracil and 5-bromouracil from mispairs with guanine.

Gene Wiki entry for TDG Gene

Additional gene information for TDG Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TDG Gene

Genomics for TDG Gene

GeneHancer (GH) Regulatory Elements for TDG Gene

Promoters and enhancers for TDG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I103964 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 600.2 +0.1 148 3.1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC ZNF610 TDG C12orf73 NFYB HSP90B1 TTC41P GC12P104022
GH12I103839 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 31 -124.5 -124507 2.8 PKNOX1 CLOCK MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 YY1 ZNF143 NT5DC3 ENSG00000257327 TDG RPL18AP3 C12orf73 TTC41P
GH12I104136 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 27.8 +172.0 171956 3.3 PKNOX1 SMAD1 NEUROD1 SIN3A DMAP1 ZNF48 YY1 POLR2B ZNF766 GLIS2 NFYB TDG WASHC4 RNA5SP370
GH12I104215 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 19.1 +252.9 252933 7.1 PKNOX1 CLOCK FOXA2 ARID4B SIN3A FEZF1 YY1 ZNF213 ZNF207 ZNF143 TXNRD1 TDG WASHC4 RPL18AP3 EID3 CHST11
GH12I103927 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.2 -35.5 -35456 6.4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 NFYC TTC41P GC12P103932 GC12P103934 HSP90B1 MIR3652 TDG RPL18AP3 C12orf73 NT5DC3 ENSG00000257681
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TDG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TDG gene promoter:

Genomic Locations for TDG Gene

Genomic Locations for TDG Gene
chr12:103,965,804-103,988,878
(GRCh38/hg38)
Size:
23,075 bases
Orientation:
Plus strand
chr12:104,359,582-104,382,656
(GRCh37/hg19)

Genomic View for TDG Gene

Genes around TDG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TDG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TDG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TDG Gene

Proteins for TDG Gene

  • Protein details for TDG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13569-TDG_HUMAN
    Recommended name:
    G/T mismatch-specific thymine DNA glycosylase
    Protein Accession:
    Q13569
    Secondary Accessions:
    • Q8IUZ6
    • Q8IZM3

    Protein attributes for TDG Gene

    Size:
    410 amino acids
    Molecular mass:
    46053 Da
    Quaternary structure:
    • Homodimer. Interacts with AICDA and GADD45A.

    Three dimensional structures from OCA and Proteopedia for TDG Gene

neXtProt entry for TDG Gene

Post-translational modifications for TDG Gene

  • Sumoylation on Lys-330 by either SUMO1 or SUMO2 induces dissociation of the product DNA.
  • Ubiquitination at isoforms=107, posLast=218218, isoforms=221, posLast=232232, and posLast=258258

No data available for DME Specific Peptides for TDG Gene

Domains & Families for TDG Gene

Gene Families for TDG Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q13569

UniProtKB/Swiss-Prot:

TDG_HUMAN :
  • Belongs to the uracil-DNA glycosylase (UDG) superfamily. TDG/mug family.
Family:
  • Belongs to the uracil-DNA glycosylase (UDG) superfamily. TDG/mug family.
genes like me logo Genes that share domains with TDG: view

Function for TDG Gene

Molecular function for TDG Gene

GENATLAS Biochemistry:
DNA glycosylase,thymine,46-55 kDa,nuclear G/T mismatch,also active toward 3,N-ethenocysteine adducts,specific,base excision repair,with delimited role in pancreatic ductal carcinogenesis
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolyzes mismatched double-stranded DNA and polynucleotides, releasing free thymine.
UniProtKB/Swiss-Prot Function:
DNA glycosylase that plays a key role in active DNA demethylation: specifically recognizes and binds 5-formylcytosine (5fC) and 5-carboxylcytosine (5caC) in the context of CpG sites and mediates their excision through base-excision repair (BER) to install an unmethylated cytosine. Cannot remove 5-hydroxymethylcytosine (5hmC). According to an alternative model, involved in DNA demethylation by mediating DNA glycolase activity toward 5-hydroxymethyluracil (5hmU) produced by deamination of 5hmC. Also involved in DNA repair by acting as a thymine-DNA glycosylase that mediates correction of G/T mispairs to G/C pairs: in the DNA of higher eukaryotes, hydrolytic deamination of 5-methylcytosine to thymine leads to the formation of G/T mismatches. Its role in the repair of canonical base damage is however minor compared to its role in DNA demethylation. It is capable of hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of the DNA and a mispaired thymine. In addition to the G/T, it can remove thymine also from C/T and T/T mispairs in the order G/T >> C/T > T/T. It has no detectable activity on apyrimidinic sites and does not catalyze the removal of thymine from A/T pairs or from single-stranded DNA. It can also remove uracil and 5-bromouracil from mispairs with guanine.

Enzyme Numbers (IUBMB) for TDG Gene

Phenotypes From GWAS Catalog for TDG Gene

Gene Ontology (GO) - Molecular Function for TDG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 15959518
GO:0001104 RNA polymerase II transcription cofactor activity IEA --
GO:0003677 DNA binding ISS,IEA --
GO:0003684 damaged DNA binding TAS 9489705
GO:0003690 double-stranded DNA binding IDA 11889051
genes like me logo Genes that share ontologies with TDG: view
genes like me logo Genes that share phenotypes with TDG: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TDG Gene

Localization for TDG Gene

Subcellular locations from UniProtKB/Swiss-Prot for TDG Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TDG gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TDG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 8662714
GO:0005654 nucleoplasm IDA,TAS --
GO:0005886 plasma membrane IDA --
GO:0016605 PML body IEA --
genes like me logo Genes that share ontologies with TDG: view

Pathways & Interactions for TDG Gene

genes like me logo Genes that share pathways with TDG: view

Pathways by source for TDG Gene

Gene Ontology (GO) - Biological Process for TDG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006281 DNA repair IEA --
GO:0006284 base-excision repair IEA,IDA 21862836
GO:0006285 base-excision repair, AP site formation IMP 18512959
GO:0006298 mismatch repair IDA 22573813
genes like me logo Genes that share ontologies with TDG: view

No data available for SIGNOR curated interactions for TDG Gene

Drugs & Compounds for TDG Gene

(5) Drugs for TDG Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for TDG Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fructosamine
  • 1-Amino-1-deoxy-D-fructose
  • D-Isoglucosamine
4429-04-3
genes like me logo Genes that share compounds with TDG: view

Transcripts for TDG Gene

Unigene Clusters for TDG Gene

Thymine-DNA glycosylase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TDG Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b
SP1: - -
SP2: - -
SP3: - -
SP4: - - -
SP5:
SP6:
SP7:
SP8: -
SP9: - -

Relevant External Links for TDG Gene

GeneLoc Exon Structure for
TDG
ECgene alternative splicing isoforms for
TDG

Expression for TDG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TDG Gene

Protein differential expression in normal tissues from HIPED for TDG Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TDG Gene



Protein tissue co-expression partners for TDG Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TDG Gene:

TDG

SOURCE GeneReport for Unigene cluster for TDG Gene:

Hs.584809

Evidence on tissue expression from TISSUES for TDG Gene

  • Intestine(4.4)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with TDG: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TDG Gene

Orthologs for TDG Gene

This gene was present in the common ancestor of animals.

Orthologs for TDG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TDG 33
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia TDG 33 34
  • 90.72 (n)
cow
(Bos Taurus)
Mammalia TDG 33 34
  • 89.3 (n)
mouse
(Mus musculus)
Mammalia Tdg 33 34
  • 83.21 (n)
Tdg-ps 16
platypus
(Ornithorhynchus anatinus)
Mammalia TDG 34
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tdg 33
  • 82.76 (n)
oppossum
(Monodelphis domestica)
Mammalia TDG 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves 5-MCDG 34
  • 77 (a)
OneToOne
TDG 33
  • 76.37 (n)
lizard
(Anolis carolinensis)
Reptilia TDG 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tdg 33
  • 69.01 (n)
Str.10527 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23573 33
zebrafish
(Danio rerio)
Actinopterygii tdg 33 34
  • 63.56 (n)
TDG (2 of 2) 34
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Thd1 35 34
  • 50 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8768 34
  • 59 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5429 33
Species where no ortholog for TDG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TDG Gene

ENSEMBL:
Gene Tree for TDG (if available)
TreeFam:
Gene Tree for TDG (if available)

Paralogs for TDG Gene

Pseudogenes.org Pseudogenes for TDG Gene

genes like me logo Genes that share paralogs with TDG: view

No data available for Paralogs for TDG Gene

Variants for TDG Gene

Sequence variations from dbSNP and Humsavar for TDG Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000065794 -- 103,971,338(+) C/T intron_variant
rs1000067695 -- 103,986,129(+) G/A intron_variant
rs1000077395 -- 103,971,094(+) T/C intron_variant
rs1000321779 -- 103,976,481(+) A/C intron_variant
rs1000334263 -- 103,982,708(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TDG Gene

Variant ID Type Subtype PubMed ID
nsv973112 CNV duplication 23825009
nsv958637 CNV deletion 24416366
nsv560039 CNV gain 21841781
nsv53249 CNV deletion 16902084
nsv52595 CNV deletion 16902084
nsv1151898 CNV deletion 26484159
nsv1148863 CNV deletion 26484159
nsv1135794 CNV deletion 24896259
nsv1135793 CNV deletion 24896259
esv9163 CNV loss 19470904
esv6803 CNV loss 19470904
esv3630623 CNV loss 21293372
esv3549716 CNV deletion 23714750
esv2746304 CNV deletion 23290073
esv2746303 CNV deletion 23290073
esv2746302 CNV deletion 23290073
esv2341266 CNV deletion 18987734
esv2137081 CNV deletion 18987734
esv2039358 CNV deletion 18987734
dgv908e59 CNV duplication 20981092
dgv199e201 CNV deletion 23290073
dgv198e201 CNV deletion 23290073
dgv197e201 CNV deletion 23290073

Variation tolerance for TDG Gene

Residual Variation Intolerance Score: 63.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.05; 96.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TDG Gene

Human Gene Mutation Database (HGMD)
TDG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TDG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TDG Gene

Disorders for TDG Gene

MalaCards: The human disease database

(4) MalaCards diseases for TDG Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
toxic diffuse goiter
miles-carpenter syndrome
  • miles-carpenter x-linked mental retardation syndrome
dissociative disorder
  • dissociative disease
spastic hemiplegia
  • congenital hemiplegia
- elite association - COSMIC cancer census association via MalaCards
Search TDG in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TDG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TDG: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TDG Gene

Publications for TDG Gene

  1. Cloning and expression of human G/T mismatch-specific thymine-DNA glycosylase. (PMID: 8662714) Neddermann P … Jiricny J (The Journal of biological chemistry 1996) 2 3 4 22 58
  2. Polymorphisms in uracil-processing genes, but not one-carbon nutrients, are associated with altered DNA uracil concentrations in an urban Puerto Rican population. (PMID: 19403629) Chanson A … Mason JB (The American journal of clinical nutrition 2009) 3 22 44 58
  3. Crystal structure of human thymine DNA glycosylase bound to DNA elucidates sequence-specific mismatch recognition. (PMID: 18587051) Maiti A … Drohat AC (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 22 58
  4. Crystal structure of SUMO-3-modified thymine-DNA glycosylase. (PMID: 16626738) Baba D … Shirakawa M (Journal of molecular biology 2006) 3 4 22 58
  5. Crystal structure of thymine DNA glycosylase conjugated to SUMO-1. (PMID: 15959518) Baba D … Shirakawa M (Nature 2005) 3 4 22 58

Products for TDG Gene

Sources for TDG Gene

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