Gene Gene information from NCBI Gene database.
Entrez ID 7172
Gene name Thiopurine S-methyltransferase
Gene symbol TPMT
Synonyms (NCBI Gene)
TPMTD
Chromosome 6
Chromosome location 6p22.3
Summary This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorph
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs1142345 T>C,G Drug-response, likely-benign, other Coding sequence variant, missense variant
rs1800460 C>T Drug-response, likely-benign, other Coding sequence variant, missense variant
rs1800462 C>G Drug-response Coding sequence variant, missense variant
rs1800584 C>T Drug-response Splice acceptor variant
rs56019966 C>T Drug-response, uncertain-significance Intron variant
miRNA miRNA information provided by mirtarbase database.
446
miRTarBase ID miRNA Experiments Reference
MIRT1449857 hsa-miR-10a CLIP-seq
MIRT1449858 hsa-miR-10b CLIP-seq
MIRT1449859 hsa-miR-1827 CLIP-seq
MIRT1449860 hsa-miR-2467-3p CLIP-seq
MIRT1449861 hsa-miR-25 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SP1 Unknown 20350137
SP3 Unknown 20350137
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
GO:0006139 Process Nucleobase-containing compound metabolic process TAS 8316220
GO:0006805 Process Xenobiotic metabolic process IDA 657528, 18484748
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
187680 12014 ENSG00000137364
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51580
Protein name Thiopurine S-methyltransferase (EC 2.1.1.67) (Thiopurine methyltransferase)
Protein function Catalyzes the S-methylation of thiopurine drugs such as 6-mercaptopurine (also called mercaptopurine, 6-MP or its brand name Purinethol) and 6-thioguanine (also called tioguanine or 6-TG) using S-adenosyl-L-methionine as the methyl donor (PubMed
PDB 2BZG , 2H11
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05724 TPMT 24 245 Thiopurine S-methyltransferase (TPMT) Family
Sequence
Sequence length 245
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Drug metabolism - other enzymes   Methylation
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
28
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Azathioprine response drug response; Likely benign rs56019966 RCV000133448
Chronic lymphocytic leukemia/small lymphocytic lymphoma drug response rs1800584 RCV005887486
Thiopurine response drug response rs201695576, rs753545734, rs1256618794, rs759836180 RCV000766278
RCV000766277
RCV000766276
RCV000766275
Thiopurine S-methyltransferase deficiency drug response; Benign; Likely benign; other; Uncertain significance rs1800462, rs1800460, rs1800584, rs1142345, rs56161402, rs74423290, rs886061256, rs886061266, rs542619563, rs528907381, rs186214874, rs543585967 RCV000013558
RCV000013561
RCV000013560
RCV000013562
RCV000013563
RCV000013564
RCV000310587
RCV000322656
RCV000397029
RCV000398409
RCV000282858
RCV000313781
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alopecia Associate 32372428
Anemia Iron Deficiency Associate 24385893
Arthralgia Associate 21961091
Autoimmune Diseases Associate 15802809, 23377985, 26213853
Bone Marrow Diseases Associate 23962279
Brain Neoplasms Associate 19535798
Carcinoma Pancreatic Ductal Inhibit 30055072
Colitis Ulcerative Associate 27703193, 29491687, 30452647
Crohn Disease Associate 27703193, 29206869, 29491687, 32372428
Cyclic neutropenia Associate 10628931, 15349717, 28914446, 34425754