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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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 Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Azathioprine response drug response; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma drug response ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
6 alpha mercaptopurine sensitivity 6 Alpha Mercaptopurine Sensitivity CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 12142782, 23407052, 25347948, 9763570
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10354134, 10376773, 10491537, 11681411, 12021625, 12142782, 15737567, 15784872, 16886902, 16966276, 17015055, 17617792, 18021342, 18385010, 18662289
View all (40 more)
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 25791511
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 11681411, 15784872, 16886902, 16966276, 18385010, 18685564, 18987654, 19034904, 20021291, 20153897, 21344614, 21400026, 22009189, 22838948, 22846425
View all (13 more)
★☆☆☆☆
Found in Text Mining only
Agranulocytosis Agranulocytosis BEFREE 10798786, 19214663
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 24322830
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 20595409
★☆☆☆☆
Found in Text Mining only
Anemia Iron Deficiency Iron deficiency anemia Pubtator 24385893 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30055072
★☆☆☆☆
Found in Text Mining only