Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7172
Gene name Gene Name - the full gene name approved by the HGNC.
Thiopurine S-methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TPMT
Synonyms (NCBI Gene) Gene synonyms aliases
TPMTD
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
SP1 Unknown 20350137
SP3 Unknown 20350137
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
187680 12014 ENSG00000137364
Protein
UniProt ID 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)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Psoriasis Psoriasis N/A N/A GWAS
Associations from Text Mining Disease 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