TPMT (thiopurine S-methyltransferase)

2003-08-01  

Identity

HGNC
LOCATION
6p22.3
LOCUSID
ALIAS
TPMTD
FUSION GENES

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137364ENST00000309983P51580
ENSG00000137364ENST00000309983A0A024QZW0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Drug metabolism - other enzymesKEGGko00983
Drug metabolism - other enzymesKEGGhsa00983
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase II conjugationREACTOMER-HSA-156580
MethylationREACTOMER-HSA-156581

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotation, VariantAnnotationambiguousPD26792652
PA134850491TransplantationDiseaseClinicalAnnotation, VariantAnnotationassociatedPD15349717, 24121523
PA162263534OtotoxicityDiseaseClinicalAnnotationassociatedPD19898482, 23588304, 23820299, 25141953, 25551397, 28406961, 28448657
PA164754994s-adenosylmethionineChemicalMultilinkAnnotationassociated25303295
PA165817016Kidney TransplantationDiseaseVariantAnnotationambiguousPD15476481, 16044099, 16704656, 17176368, 19048245, 19695401, 21712851, 21819368
PA165817398MyelosuppressionDiseaseVariantAnnotation, VipGeneassociatedPD20136357, 22535280, 26674571
PA165819269TPMT*2HaplotypeGuidelineAnnotation, LabelAnnotationassociated
PA165819270TPMT*3AHaplotypeGuidelineAnnotation, LabelAnnotationassociated
PA165819271TPMT*3BHaplotypeGuidelineAnnotationassociated
PA165819272TPMT*3CHaplotypeGuidelineAnnotation, LabelAnnotationassociated
PA166114454transplant rejectionDiseaseVariantAnnotationassociatedPD
PA166114458heart transplantationDiseaseVariantAnnotationassociatedPD10798786
PA166123046cessationDiseaseVariantAnnotationnot associatedPD21692613
PA166123206toleranceDiseaseVariantAnnotationassociated21319286
PA166123209malaiseDiseaseVariantAnnotationnot associatedPD16611274
PA166123366event-free survivalDiseaseVariantAnnotationassociatedPD
PA166154759rs116855232VariantLabelAnnotationassociated
PA166156978rs1142345VariantVipGeneassociated16220112
PA166156992rs1800460VariantVipGeneassociated8561894
PA166156993rs1800462VariantVipGeneassociated
PA166156995rs1800584VariantVipGeneassociated
PA166159953dose reductionDiseaseVariantAnnotationassociatedPD
PA166160623thioguanosine monophosphateChemicalVariantAnnotationassociatedPK26332308
PA166160632thioguanosine diphosphateChemicalVariantAnnotationassociatedPK26332308
PA166160633thioguanosine triphosphateChemicalVariantAnnotationassociatedPK26332308
PA443434Arthritis, RheumatoidDiseaseVariantAnnotationassociatedPD12509611
PA443750Colitis, UlcerativeDiseaseVariantAnnotationassociatedPD14560161
PA443815Crohn DiseaseDiseaseClinicalAnnotation, VariantAnnotationambiguousPKPD17696202, 26735160, 27604507
PA443842DeathDiseaseVariantAnnotationassociatedPD
PA443928DizzinessDiseaseVariantAnnotationassociatedPD23559402
PA443937Drug ToxicityDiseaseClinicalAnnotation, VariantAnnotation, VipGeneambiguousPD18987660, 19898482, 20136357, 22838948, 23588304, 23820299, 25141953, 25551397, 28448657
PA444153FatigueDiseaseClinicalAnnotation, VariantAnnotationassociatedPD23559402
PA444352Head and Neck NeoplasmsDiseaseVariantAnnotationambiguousPD26792652
PA444395Hematologic DiseasesDiseaseVariantAnnotationassociatedPD
PA444614InfectionDiseaseVariantAnnotationassociatedPD18987660
PA444620InflammationDiseaseVariantAnnotationnot associatedPD21692613
PA444750LeukemiaDiseaseVariantAnnotationassociatedPD18188716
PA444760Leukemia, Myeloid, AcuteDiseaseVariantAnnotationassociatedPD17696202
PA444773LeukopeniaDiseaseLiterature, MultilinkAnnotation, VariantAnnotation, VipGeneambiguousPD16431304, 16611274, 20136357, 21690596, 26674571, 26735160, 27604507, 28146264
PA444822Lupus Erythematosus, SystemicDiseaseClinicalAnnotation, VariantAnnotationambiguousPKPD12172211, 12835738, 13679074, 15083071, 15226673, 15652243, 16220112, 16396707, 16917910, 17885628, 18602085, 18605963, 18708949, 22838948, 9246020, 9711875, 9931346
PA445062NeoplasmsDiseaseClinicalAnnotation, VariantAnnotationambiguousPD19535798, 19898482, 23588304, 23820299, 24642735, 25141953, 25551397, 26792652, 28448657, 31666714
PA445113NeutropeniaDiseaseVariantAnnotationassociatedPD
PA445204Ovarian NeoplasmsDiseaseClinicalAnnotationassociatedPD24533712
PA445220PancreatitisDiseaseVariantAnnotationnot associatedPD16611274
PA445555Rheumatic DiseasesDiseaseVariantAnnotationassociatedPD9841604
PA445683Skin NeoplasmsDiseaseVariantAnnotationassociatedPD16704656
PA445746StomatitisDiseaseVariantAnnotationassociatedPD18987660
PA445846ThrombocytopeniaDiseaseVariantAnnotationassociatedPD
PA446116Inflammatory Bowel DiseasesDiseaseVariantAnnotationambiguousPKPD10734022, 12172211, 15545169, 16202677, 16431304, 16611274, 17439508, 18467186, 18616518, 18827410, 19682195, 20175817, 20308917, 22535280, 26332308, 26674571
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotation, VariantAnnotationambiguousPKPD10354134, 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
PA446861Hepatitis, AutoimmuneDiseaseVariantAnnotationassociatedPD17241387
PA447247liver transplantationDiseaseVariantAnnotationambiguousPD15973722
PA448515azathioprineChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGeneambiguousPKPD10354134, 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
PA449014cisplatinChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, VariantAnnotationambiguousPD19898482, 23588304, 23820299, 24533712, 24642735, 25141953, 25551397, 26792652, 28406961, 28448657, 31666714
PA449165cyclophosphamideChemicalClinicalAnnotationassociatedPD24533712
PA449167cyclosporineChemicalVariantAnnotationassociatedPD15476481, 16044099
PA450379mercaptopurineChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGeneambiguousPKPD10354134, 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
PA450428methotrexateChemicalVariantAnnotationambiguousPD17164697, 18987660, 22838948, 9510461
PA450688olanzapineChemicalClinicalAnnotation, VariantAnnotationassociatedPD23559402
PA451100prednisoneChemicalVariantAnnotationassociatedPD16044099
PA451663thioguanineChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGeneambiguousPKPD10354134, 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
PA452634purine analoguesChemicalClinicalAnnotation, Literature, MultilinkAnnotation, VariantAnnotationambiguousPKPD10354134, 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 IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.84
152266732004Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants.59
152266732004Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants.59
157848722005Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia.52
157848722005Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia.52
160069972005A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.52
201730832010Genetic variation in metabolizing enzyme and transporter genes: comprehensive assessment in 3 major East Asian subpopulations with comparison to Caucasians and Africans.44
121722112002Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: impact of thiopurine S-methyltransferase polymorphism.41
260723962015Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease.40

Citation

Dessen P

TPMT (thiopurine S-methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/42680/tpmt