TPMT thiopurine S-methyltransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: TPMTprovided by HGNC
Official Full Name: thiopurine S-methyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:12014
See related: Ensembl:ENSG00000137364 MIM:187680; AllianceGenome:HGNC:12014
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TPMTD
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 polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014]
Expression: Broad expression in thyroid (RPKM 38.6), kidney (RPKM 27.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p22.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (18128311..18155169, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (18000482..18027339, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (18128542..18155400, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Differential molecular mechanisms of substrate recognition by selenium methyltransferases, INMT and TPMT, in selenium detoxification and excretion.
Title: Differential molecular mechanisms of substrate recognition by selenium methyltransferases, INMT and TPMT, in selenium detoxification and excretion.
Transcriptome analysis reveals involvement of thiopurine S-methyltransferase in oxidation-reduction processes.
Title: Transcriptome analysis reveals involvement of thiopurine S-methyltransferase in oxidation-reduction processes.
The c.415C>T polymorphism in NUDT15 is more frequent than the polymorphisms in TPMT in Chilean patients who use thiopurine drugs.
Title: The c.415C>T polymorphism in NUDT15 is more frequent than the polymorphisms in TPMT in Chilean patients who use thiopurine drugs.
Role of Cisplatin Dose Intensity and TPMT Variation in the Development of Hearing Loss in Children.
Title: Role of Cisplatin Dose Intensity and TPMT Variation in the Development of Hearing Loss in Children.
TPMT gene polymorphisms (c.238G>C, c.460G>A and c.719A>G) in a healthy Venezuelan population.
Title: TPMT gene polymorphisms (c.238G>C, c.460G>A and c.719A>G) in a healthy Venezuelan population.
Molybdenum Cofactor Catabolism Unravels the Physiological Role of the Drug Metabolizing Enzyme Thiopurine S-Methyltransferase.
Title: Molybdenum Cofactor Catabolism Unravels the Physiological Role of the Drug Metabolizing Enzyme Thiopurine S-Methyltransferase.
Susceptibility to thiopurine toxicity by TPMT and NUDT15 variants in Colombian children with acute lymphoblastic leukemia.
Title: Susceptibility to thiopurine toxicity by TPMT and NUDT15 variants in Colombian children with acute lymphoblastic leukemia.
TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results.
Title: TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results.
[Effect of genetic polymorphism of TPMT and NUDT15 on the tolerance of 6-mercaptopurine therapy in adult acute lymphoblastic leukemia].
Title: [Effect of genetic polymorphism of TPMT and NUDT15 on the tolerance of 6-mercaptopurine therapy in adult acute lymphoblastic leukemia].
Identification of rare defective allelic variants in cases of thiopurine S-methyltransferase deficient activity.
Title: Identification of rare defective allelic variants in cases of thiopurine S-methyltransferase deficient activity.

Submit: New GeneRIF Correction See all GeneRIFs (186)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Azathioprine response MedGen: CN077959 GeneReviews: Not available	Compare labs
Mercaptopurine response MedGen: CN077995 GeneReviews: Not available	Compare labs
Thioguanine response MedGen: CN078017 GeneReviews: Not available	Compare labs
Thiopurine S-methyltransferase deficiency MedGen: C0342801 OMIM: 610460 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80825 (e-PCR)
- UniSTS:85253

RH70558 (e-PCR)
- UniSTS:91668

D8S2279 (e-PCR)
- UniSTS:473907

GDB:462456 (e-PCR)
- UniSTS:157495

GDB:511235 (e-PCR)
- UniSTS:157497

RH102775 (e-PCR)
- UniSTS:97109

RH79116 (e-PCR)
- UniSTS:88927

D16S325 (e-PCR)
- UniSTS:147089

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables S-adenosyl-L-methionine binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables thiopurine S-methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables thiopurine S-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables thiopurine S-methyltransferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in methylation	TAS Traceable Author Statement more info
involved_in nucleobase-containing compound metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in xenobiotic catabolic process	TAS Traceable Author Statement more info
involved_in xenobiotic metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: thiopurine S-methyltransferase

Names: S-adenosyl-L-methionine:thiopurine S-methyltransferase

NP_000358.1

EC 2.1.1.67

NP_001333746.1

EC 2.1.1.67

NP_001333747.1

EC 2.1.1.67

XP_047275245.1

EC 2.1.1.67

XP_047275246.1

EC 2.1.1.67

XP_054212273.1

EC 2.1.1.67

XP_054212274.1

EC 2.1.1.67

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.