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Gene Gene information from NCBI Gene database.
Entrez ID 6996
Gene name Thymine DNA glycosylase
Gene symbol TDG
Synonyms (NCBI Gene)
hTDG
Chromosome 12
Chromosome location 12q23.3
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 mispaire
miRNA miRNA information provided by mirtarbase database.
520 Show/Hide all (520)
miRTarBase ID miRNA Experiments Reference
MIRT001921 hsa-miR-29c-3p Luciferase reporter assay 18390668
MIRT001921 hsa-miR-29c-3p Luciferase reporter assay 18390668
MIRT001921 hsa-miR-29c-3p Reporter assay;Other 18390668
MIRT024737 hsa-miR-215-5p Microarray 19074876
MIRT026661 hsa-miR-192-5p Microarray 19074876
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
DNMT3L Repression 20428781
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53 Show/Hide all (53)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000287 Function Magnesium ion binding IDA 15959518
GO:0000700 Function Mismatch base pair DNA N-glycosylase activity IEA
GO:0003676 Function Nucleic acid binding EXP 18512959
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601423 11700 ENSG00000139372
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13569
Protein name G/T mismatch-specific thymine DNA glycosylase (EC 3.2.2.29) (Thymine-DNA glycosylase) (hTDG)
Protein 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)
PDB 1WYW , 2D07 , 2RBA , 3UFJ , 3UO7 , 3UOB , 4FNC , 4JGC , 4XEG , 4Z3A , 4Z47 , 4Z7B , 4Z7Z , 5CYS , 5FF8 , 5HF7 , 5JXY , 5T2W , 6U15 , 6U16 , 6U17
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03167 UDG 125 → 295 Uracil DNA glycosylase superfamily Domain
Sequence
MEAENAGSYSLQQAQAFYTFPFQQLMAEAPNMAVVNEQQMPEEVPAPAPAQEPVQEAPKG
RKRKPRTTEPKQPVEPKKPVESKKSGKSAKSKEKQEKITDTFKVKRKVDRFNGVSEAELL
TKTLPDILTFNLDIVIIGINPGLMAAYKGHHYPGPGNHFWKCLFMSGLSEVQLNHMDDHT
LPGKYGIGFTNMVERTTPGSKDLSSKEFREGGRILVQKLQKYQPRIAVFNGKCIYEIFSK
EVFGVKVKNLEFGLQPHKIPDTETLCYVMPSSSARCAQFPRAQDKVHYYIKLKDL
RDQLK
GIERNMDVQEVQYTFDLQLAQEDAKKMAVKEEKYDPGYEAAYGGAYGENPCSSEPCGFSS
NGLIESVELRGESAFSGIPNGQWMTQSFTDQIPSFSNHCGTQEQEEESHA
Sequence length 410
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Base excision repair Recognition and association of DNA glycosylase with site containing an affected pyrimidine
  Cleavage of the damaged pyrimidine
  Displacement of DNA glycosylase by APEX1
  SUMOylation of DNA damage response and repair proteins
  TET1,2,3 and TDG demethylate DNA
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Hereditary breast ovarian cancer syndrome Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (35)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 25945745 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 28228863
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29378668
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26207381 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37224078 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 28228863
★★★★★
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 22961839, 24748645
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 17029639, 24532795, 31239841
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 17029639, 24532795, 36811212 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms LHGDN 17029639
★★★★★
★☆☆☆☆
Found in Text Mining only