TPMT (thiopurine S-methyltransferase)

2003-08-01 Affiliation

Identity

HGNC

TPMT

LOCATION

6p22.3

LOCUSID

7172

ALIAS

TPMTD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7172
MIM: 187680
HGNC: 12014
Ensembl: ENSG00000137364

Variants:

dbSNP: 7172
ClinVar: 7172
TCGA: ENSG00000137364
COSMIC: TPMT

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000137364	ENST00000309983	P51580
ENSG00000137364	ENST00000309983	A0A024QZW0

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Drug metabolism - other enzymes	KEGG	ko00983
Drug metabolism - other enzymes	KEGG	hsa00983
Metabolism	REACTOME	R-HSA-1430728
Biological oxidations	REACTOME	R-HSA-211859
Phase II conjugation	REACTOME	R-HSA-156580
Methylation	REACTOME	R-HSA-156581

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA128406956	fluorouracil	Chemical	ClinicalAnnotation, VariantAnnotation	ambiguous		PD	26792652
PA134850491	Transplantation	Disease	ClinicalAnnotation, VariantAnnotation	associated		PD	15349717, 24121523
PA162263534	Ototoxicity	Disease	ClinicalAnnotation	associated		PD	19898482, 23588304, 23820299, 25141953, 25551397, 28406961, 28448657
PA164754994	s-adenosylmethionine	Chemical	MultilinkAnnotation	associated			25303295
PA165817016	Kidney Transplantation	Disease	VariantAnnotation	ambiguous		PD	15476481, 16044099, 16704656, 17176368, 19048245, 19695401, 21712851, 21819368
PA165817398	Myelosuppression	Disease	VariantAnnotation, VipGene	associated		PD	20136357, 22535280, 26674571
PA165819269	TPMT*2	Haplotype	GuidelineAnnotation, LabelAnnotation	associated
PA165819270	TPMT*3A	Haplotype	GuidelineAnnotation, LabelAnnotation	associated
PA165819271	TPMT*3B	Haplotype	GuidelineAnnotation	associated
PA165819272	TPMT*3C	Haplotype	GuidelineAnnotation, LabelAnnotation	associated
PA166114454	transplant rejection	Disease	VariantAnnotation	associated		PD
PA166114458	heart transplantation	Disease	VariantAnnotation	associated		PD	10798786
PA166123046	cessation	Disease	VariantAnnotation	not associated		PD	21692613
PA166123206	tolerance	Disease	VariantAnnotation	associated			21319286
PA166123209	malaise	Disease	VariantAnnotation	not associated		PD	16611274
PA166123366	event-free survival	Disease	VariantAnnotation	associated		PD
PA166154759	rs116855232	Variant	LabelAnnotation	associated
PA166156978	rs1142345	Variant	VipGene	associated			16220112
PA166156992	rs1800460	Variant	VipGene	associated			8561894
PA166156993	rs1800462	Variant	VipGene	associated
PA166156995	rs1800584	Variant	VipGene	associated
PA166159953	dose reduction	Disease	VariantAnnotation	associated		PD
PA166160623	thioguanosine monophosphate	Chemical	VariantAnnotation	associated	PK		26332308
PA166160632	thioguanosine diphosphate	Chemical	VariantAnnotation	associated	PK		26332308
PA166160633	thioguanosine triphosphate	Chemical	VariantAnnotation	associated	PK		26332308
PA443434	Arthritis, Rheumatoid	Disease	VariantAnnotation	associated		PD	12509611
PA443750	Colitis, Ulcerative	Disease	VariantAnnotation	associated		PD	14560161
PA443815	Crohn Disease	Disease	ClinicalAnnotation, VariantAnnotation	ambiguous	PK	PD	17696202, 26735160, 27604507
PA443842	Death	Disease	VariantAnnotation	associated		PD
PA443928	Dizziness	Disease	VariantAnnotation	associated		PD	23559402
PA443937	Drug Toxicity	Disease	ClinicalAnnotation, VariantAnnotation, VipGene	ambiguous		PD	18987660, 19898482, 20136357, 22838948, 23588304, 23820299, 25141953, 25551397, 28448657
PA444153	Fatigue	Disease	ClinicalAnnotation, VariantAnnotation	associated		PD	23559402
PA444352	Head and Neck Neoplasms	Disease	VariantAnnotation	ambiguous		PD	26792652
PA444395	Hematologic Diseases	Disease	VariantAnnotation	associated		PD
PA444614	Infection	Disease	VariantAnnotation	associated		PD	18987660
PA444620	Inflammation	Disease	VariantAnnotation	not associated		PD	21692613
PA444750	Leukemia	Disease	VariantAnnotation	associated		PD	18188716
PA444760	Leukemia, Myeloid, Acute	Disease	VariantAnnotation	associated		PD	17696202
PA444773	Leukopenia	Disease	Literature, MultilinkAnnotation, VariantAnnotation, VipGene	ambiguous		PD	16431304, 16611274, 20136357, 21690596, 26674571, 26735160, 27604507, 28146264
PA444822	Lupus Erythematosus, Systemic	Disease	ClinicalAnnotation, VariantAnnotation	ambiguous	PK	PD	12172211, 12835738, 13679074, 15083071, 15226673, 15652243, 16220112, 16396707, 16917910, 17885628, 18602085, 18605963, 18708949, 22838948, 9246020, 9711875, 9931346
PA445062	Neoplasms	Disease	ClinicalAnnotation, VariantAnnotation	ambiguous		PD	19535798, 19898482, 23588304, 23820299, 24642735, 25141953, 25551397, 26792652, 28448657, 31666714
PA445113	Neutropenia	Disease	VariantAnnotation	associated		PD
PA445204	Ovarian Neoplasms	Disease	ClinicalAnnotation	associated		PD	24533712
PA445220	Pancreatitis	Disease	VariantAnnotation	not associated		PD	16611274
PA445555	Rheumatic Diseases	Disease	VariantAnnotation	associated		PD	9841604
PA445683	Skin Neoplasms	Disease	VariantAnnotation	associated		PD	16704656
PA445746	Stomatitis	Disease	VariantAnnotation	associated		PD	18987660
PA445846	Thrombocytopenia	Disease	VariantAnnotation	associated		PD
PA446116	Inflammatory Bowel Diseases	Disease	VariantAnnotation	ambiguous	PK	PD	10734022, 12172211, 15545169, 16202677, 16431304, 16611274, 17439508, 18467186, 18616518, 18827410, 19682195, 20175817, 20308917, 22535280, 26332308, 26674571
PA446155	Precursor Cell Lymphoblastic Leukemia-Lymphoma	Disease	ClinicalAnnotation, VariantAnnotation	ambiguous	PK	PD	10354134, 10376773, 11037857, 11337943, 12142782, 12172211, 12835738, 13679074, 15083071, 15226673, 15652243, 15784872, 16220112, 16396707, 16917910, 17015055, 17164697, 17617792, 17885628, 18602085, 18605963, 18708949, 18987660, 19057372, 19535798, 1960624, 20153897, 21319286, 22838948, 22846425, 25624441, 26503813, 27564568, 27577869, 28146264, 29683944, 9246020, 9510461, 9711875, 9931346
PA446861	Hepatitis, Autoimmune	Disease	VariantAnnotation	associated		PD	17241387
PA447247	liver transplantation	Disease	VariantAnnotation	ambiguous		PD	15973722
PA448515	azathioprine	Chemical	ClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGene	ambiguous	PK	PD	10354134, 10376773, 10580024, 10591545, 10734022, 10798786, 11037857, 11337943, 11372592, 11503011, 12142782, 12172211, 12269967, 12477776, 12509611, 12777968, 12835738, 12880540, 13679074, 14508387, 1451710, 14560161, 14566029, 14656901, 15022030, 15083071, 15226673, 15349717, 15476481, 15545169, 15570193, 15652243, 15792824, 15973722, 16044099, 16202677, 16207256, 16220112, 16272700, 16396707, 16431304, 16543290, 16611274, 16691038, 16704656, 16842460, 16917910, 16952345, 17015055, 17164697, 17176368, 17220558, 17241387, 17439508, 17617792, 17696202, 17885628, 18188716, 18467186, 18602085, 18605963, 18616518, 18708949, 18827410, 18987654, 18987660, 19048245, 19057372, 19535798, 1960624, 19682195, 19695401, 19891552, 20136357, 20153897, 20175817, 20308917, 20593505, 20945351, 21270794, 21319286, 21395650, 21692613, 21712851, 21819368, 22535280, 22838948, 23029095, 23252716, 23422873, 24121523, 25347948, 25441457, 25614061, 26674571, 26735160, 27082580, 27577869, 27604507, 28146264, 7818564, 7862671, 8094196, 8257179, 8644731, 9103127, 9177237, 9246020, 9486974, 9510461, 9695718, 9711875, 9841604, 9931346
PA449014	cisplatin	Chemical	ClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, VariantAnnotation	ambiguous		PD	19898482, 23588304, 23820299, 24533712, 24642735, 25141953, 25551397, 26792652, 28406961, 28448657, 31666714
PA449165	cyclophosphamide	Chemical	ClinicalAnnotation	associated		PD	24533712
PA449167	cyclosporine	Chemical	VariantAnnotation	associated		PD	15476481, 16044099
PA450379	mercaptopurine	Chemical	ClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGene	ambiguous	PK	PD	10354134, 10376773, 10580024, 10591545, 10734022, 10798786, 11037857, 11337943, 11372592, 11503011, 12142782, 12172211, 12269967, 12477776, 12509611, 12777968, 12835738, 12880540, 13679074, 14508387, 1451710, 14560161, 14656901, 15022030, 15083071, 15226673, 15349717, 15476481, 15545169, 15570193, 15652243, 15784872, 15792824, 15973722, 16044099, 16202677, 16207256, 16220112, 16272700, 16396707, 16431304, 16543290, 16611274, 16691038, 16704656, 16917910, 16952345, 17015055, 17164697, 17176368, 17220558, 17241387, 17439508, 17617792, 17885628, 18188716, 18467186, 18602085, 18605963, 18616518, 18708949, 18827410, 18987654, 18987660, 19048245, 19057372, 19535798, 1960624, 19682195, 19695401, 19891552, 20136357, 20153897, 20175817, 20308917, 20593505, 20881512, 20945351, 21270794, 21319286, 21395650, 21712851, 21819368, 22838948, 22846425, 23029095, 23252716, 23422873, 24624911, 24710034, 25347948, 25441457, 25614061, 25624441, 25799415, 26226448, 26503813, 27082580, 27564568, 27577869, 27604507, 28146264, 29683944, 7862671, 8257179, 8644731, 9103127, 9177237, 9246020, 9486974, 9510461, 9695718, 9711875, 9841604, 9931346
PA450428	methotrexate	Chemical	VariantAnnotation	ambiguous		PD	17164697, 18987660, 22838948, 9510461
PA450688	olanzapine	Chemical	ClinicalAnnotation, VariantAnnotation	associated		PD	23559402
PA451100	prednisone	Chemical	VariantAnnotation	associated		PD	16044099
PA451663	thioguanine	Chemical	ClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGene	ambiguous	PK	PD	10354134, 10376773, 10580024, 10591545, 10734022, 10798786, 11037857, 11337943, 11372592, 11503011, 12142782, 12172211, 12269967, 12477776, 12509611, 12777968, 12835738, 12880540, 13679074, 14508387, 1451710, 14560161, 14656901, 15022030, 15083071, 15226673, 15349717, 15476481, 15545169, 15570193, 15652243, 15792824, 15973722, 16044099, 16202677, 16207256, 16220112, 16272700, 16396707, 16431304, 16543290, 16611274, 16691038, 16704656, 16917910, 16952345, 17015055, 17164697, 17176368, 17220558, 17241387, 17439508, 17617792, 17885628, 18188716, 18467186, 18602085, 18605963, 18616518, 18708949, 18827410, 18987654, 18987660, 19048245, 19057372, 19535798, 1960624, 19682195, 19695401, 19891552, 20136357, 20153897, 20175817, 20308917, 20593505, 20881512, 20945351, 21270794, 21319286, 21395650, 21712851, 21819368, 22838948, 23029095, 23252716, 23422873, 24624911, 24710034, 25347948, 25441457, 25564374, 25614061, 27082580, 27577869, 27604507, 28146264, 7862671, 8257179, 8644731, 9103127, 9177237, 9246020, 9486974, 9510461, 9695718, 9711875, 9841604, 9931346
PA452634	purine analogues	Chemical	ClinicalAnnotation, Literature, MultilinkAnnotation, VariantAnnotation	ambiguous	PK	PD	10354134, 10376773, 10580024, 10591545, 10734022, 10798786, 11037857, 11337943, 11372592, 11503011, 12142782, 12172211, 12269967, 12477776, 12509611, 12777968, 12835738, 12880540, 13679074, 14508387, 14560161, 14656901, 15022030, 15083071, 15226673, 15349717, 15476481, 15545169, 15570193, 15652243, 15792824, 15973722, 16044099, 16202677, 16207256, 16220112, 16272700, 16396707, 16431304, 16543290, 16611274, 16691038, 16704656, 16842460, 16917910, 16952345, 17015055, 17164697, 17176368, 17220558, 17241387, 17439508, 17617792, 17885628, 18188716, 18467186, 18602085, 18605963, 18616518, 18708949, 18827410, 18987654, 18987660, 19048245, 19057372, 19535798, 1960624, 19682195, 19695401, 19891552, 20136357, 20153897, 20175817, 20308917, 20593505, 20945351, 21319286, 21395650, 21690596, 21712851, 21819368, 22838948, 23029095, 23252716, 25347948, 25441457, 25614061, 27082580, 27577869, 27604507, 28146264, 7862671, 8257179, 8644731, 9103127, 9177237, 9246020, 9486974, 9510461, 9695718, 9711875, 9841604, 9931346

References

Pubmed ID	Year	Title	Citations
37865284	2024	Transcriptome analysis reveals involvement of thiopurine S-methyltransferase in oxidation-reduction processes.	0
38159853	2024	Differential molecular mechanisms of substrate recognition by selenium methyltransferases, INMT and TPMT, in selenium detoxification and excretion.	1
37865284	2024	Transcriptome analysis reveals involvement of thiopurine S-methyltransferase in oxidation-reduction processes.	0
38159853	2024	Differential molecular mechanisms of substrate recognition by selenium methyltransferases, INMT and TPMT, in selenium detoxification and excretion.	1
36917731	2023	Role of Cisplatin Dose Intensity and TPMT Variation in the Development of Hearing Loss in Children.	0
36946340	2023	TPMT gene polymorphisms (c.238G>C, c.460G>A and c.719A>G) in a healthy Venezuelan population.	0
37556121	2023	The c.415C>T polymorphism in NUDT15 is more frequent than the polymorphisms in TPMT in Chilean patients who use thiopurine drugs.	1
36917731	2023	Role of Cisplatin Dose Intensity and TPMT Variation in the Development of Hearing Loss in Children.	0
36946340	2023	TPMT gene polymorphisms (c.238G>C, c.460G>A and c.719A>G) in a healthy Venezuelan population.	0
37556121	2023	The c.415C>T polymorphism in NUDT15 is more frequent than the polymorphisms in TPMT in Chilean patients who use thiopurine drugs.	1
34582038	2022	TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results.	11
35538648	2022	Molybdenum Cofactor Catabolism Unravels the Physiological Role of the Drug Metabolizing Enzyme Thiopurine S-Methyltransferase.	2
34582038	2022	TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results.	11
35538648	2022	Molybdenum Cofactor Catabolism Unravels the Physiological Role of the Drug Metabolizing Enzyme Thiopurine S-Methyltransferase.	2
33846471	2021	Association of genetic variants in TPMT, ITPA, and NUDT15 with azathioprine-induced myelosuppression in southwest china patients with autoimmune hepatitis.	6

Citation

Dessen P

TPMT (thiopurine S-methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/42680/gene-explorer/js/humanGenome