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TPMT Gene

protein-coding   GIFtS: 67
GCID: GC06M018072

Thiopurine S-Methyltransferase

  See TPMT-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Thiopurine S-Methyltransferase1 2
EC 2.1.1.673 8
S-Adenosyl-L-Methionine:Thiopurine S-Methyltransferase2
Thiopurine Methyltransferase3

External Ids:    HGNC: 120141   Entrez Gene: 71722   Ensembl: ENSG000001373647   OMIM: 1876805   UniProtKB: P515803   

Export aliases for TPMT gene to outside databases

Previous GC identifers: GC06M018186 GC06M018236


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TPMT 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 polymorphisms that affect this enzymatic activity are correlated with variations
in sensitivity and toxicity to such drugs within individuals. A pseudogene for this locus is located on
chromosome 18q. (provided by RefSeq, Jul 2008)

GeneCards Summary for TPMT Gene:
TPMT (thiopurine S-methyltransferase) is a protein-coding gene. Diseases associated with TPMT include pancytopenia, and thiopurine s methyltranferase deficiency. GO annotations related to this gene include thiopurine S-methyltransferase activity.

UniProtKB/Swiss-Prot: TPMT_HUMAN, P51580
Function: Catalyzes the S-methylation of thiopurine drugs such as 6-mercaptopurine

Gene Wiki entry for TPMT (Thiopurine methyltransferase) Gene

PharmGKB "VIP" summary for TPMT


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the TPMT gene promoter:
         SRF   Pbx1a   SRF (504 AA)   SEF-1 (1)   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTPMT promoter sequence
   Search Chromatin IP Primers for TPMT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TPMT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p22.3   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p22.3

TPMT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPMT gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M018072:  view genomic region     (about GC identifiers)

Start:
18,128,542 bp from pter      End:
18,155,374 bp from pter
Size:
26,833 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TPMT_HUMAN, P51580 (See protein sequence)
Recommended Name: Thiopurine S-methyltransferase  
Size: 245 amino acids; 28180 Da
Subunit: Monomer
Miscellaneous: TPMT deficiency inherited by TPMT*2 and TPMT*3A alleles, are the most prevalent mutant TPMT in
humans. TPMT deficiency is associated with lower cellular levels of TPMT protein, and the proteins encoded by
TPMT*2 and TPMT*3A mutant alleles are degraded more rapidly by an ATP-dependent proteasome-mediated pathway
Sequence caution: Sequence=AAB71631.1; Type=Erroneous initiation; Sequence=AAB71632.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for TPMT:
2BZG (3D)        2H11 (3D)    
Secondary accessions: O14806 O15423 O15424 O15425 O15426 O15515 O15548 O43213 Q5VUK6 Q9UBE6
Q9UBT8 Q9UE62

Explore the universe of human proteins at neXtProt for TPMT: NX_P51580

Explore proteomics data for TPMT at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys37
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TPMT (P51580) (see all 14)
     TEIPGTK  FHQEQGH  GPPFYVP  SYDPTKH 


    See TPMT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000358.1  
    ENSEMBL proteins: 
     ENSP00000312304  
    Reactome Protein details: P51580

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    Cloud-Clone Corp. Proteins for TPMT

     
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    antibodies-online proteins for TPMT (16 products) 

     
    antibodies-online peptides for TPMT

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    antibodies-online antibodies for TPMT (67 products) 

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    antibodies-online kits for TPMT (16 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR008854 TPMT
     IPR025835 Thiopurine_S-MeTrfase

    Graphical View of Domain Structure for InterPro Entry P51580

    ProtoNet protein and cluster: P51580

    1 Blocks protein domain: IPB008854 Thiopurine S-methyltransferase

    UniProtKB/Swiss-Prot: TPMT_HUMAN, P51580
    Similarity: Belongs to the class I-like SAM-binding methyltransferase superfamily. TPMT family


    Find genes that share domains with TPMT           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPMT_HUMAN, P51580
    Function: Catalyzes the S-methylation of thiopurine drugs such as 6-mercaptopurine
    Catalytic activity: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine
    S-methylether
    Enzyme regulation: Inhibited by S-adenosyl-L-homocysteine (SAH)
    Biophysicochemical properties: Kinetic parameters: KM=5.6 mM for S-adenosyl-L-methionine; KM=0.35 mM for
    6-mercaptopurine; Vmax=0.6 nmol/sec/mg enzyme toward 6-mercaptopurine (at 37 degrees Celsius);

         Genatlas biochemistry entry for TPMT:
    thiopurine methyltransferase,cytosolic,catalyzing the S-methylation of thiopurine drugs

         Enzyme Number (IUBMB): EC 2.1.1.671 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008119thiopurine S-methyltransferase activity IEA--
    GO:0008757S-adenosylmethionine-dependent methyltransferase activity ----
         
    Find genes that share ontologies with TPMT           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tpmt):
     growth/size/body  hematopoietic system  homeostasis/metabolism  mortality/aging  reproductive system 

    Find genes that share phenotypes with TPMT           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tpmttm1Rlng for TPMT

       genOway: Develop your customized and physiologically relevant rodent model for TPMT

    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate TPMT:
    hsa-miR-586 hsa-miR-3613-3p hsa-miR-616* hsa-miR-556-5p hsa-miR-373*
    SwitchGear 3'UTR luciferase reporter plasmidTPMT 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TPMT

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    Browse Sino Biological Human cDNA Clones
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    Addgene plasmids for TPMT 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TPMT_HUMAN, P51580: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    extracellular1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    Find genes that share ontologies with TPMT           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TPMT About    
    See pathways by source

    SuperPathContained pathways About
    1Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42
    Phase II conjugation0.56
    Methylation0.00
    2Metabolism
    Metabolism0.38
    3Glucuronidation
    Drug metabolism - other enzymes0.36
    4One carbon pool by folate
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics0.34


    Find genes that share SuperPaths with TPMT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TPMT
        metapathway biotransformation

    1 Reactome Pathway for TPMT
        Methylation

    1 PharmGKB Pathway for TPMT
        Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    1 Kegg Pathway  (Kegg details for TPMT):
        Drug metabolism - other enzymes

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TPMT: 
              Cancer Drug Resistance in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TPMT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for TPMT (P515803 ENSP000003123044) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TLN1Q9Y4903I2D: score=1 
    AHCYENSP000002174264STRING: ENSP00000217426
    CYP1A2ENSP000003420074STRING: ENSP00000342007
    GMPSENSP000004198514STRING: ENSP00000419851
    HPRT1ENSP000002985564STRING: ENSP00000298556
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process TAS8316220
    GO:0006805xenobiotic metabolic process TAS--
    GO:0014070response to organic cyclic compound ----
    GO:0032259methylation TAS--
    GO:0033574response to testosterone IEA--

    Find genes that share ontologies with TPMT           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TPMT

    2 HMDB Compounds for TPMT    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    6 DrugBank Compounds for TPMT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Olsalazine-- 15722-48-2targetinhibitor12117866 14752016 9780130 9357398
    CefazolinCefazolin sodium (see all 4)25953-19-9enzymesubstrate12228189 2865352
    AzathioprineAzathioprin (see all 3)446-86-6enzymesubstrate18506437
    BendroflumethiazideBendrofluazide (see all 9)73-48-3enzymeinhibitor8866635
    Mercaptopurine6 MP (see all 5)50-44-2enzymesubstrate15354273
    Trichlormethiazide-- 133-67-5enzymeinhibitor8866635

    Selected Novoseek inferred chemical compound relationships for TPMT gene (see all 51)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thiopurine 99.6 1711 11876691 (10), 8721407 (6), 15854172 (6), 8171183 (6) (see all 99)
    6 mercaptopurine 97.4 557 8861653 (8), 11681411 (8), 20021291 (6), 16795981 (6) (see all 99)
    6-thioguanine nucleotide 93.7 38 11856081 (3), 16633046 (3), 8721407 (2), 15167634 (2) (see all 17)
    6 thioguanine 92.6 135 10954350 (5), 7603453 (4), 11479220 (4), 11037857 (4) (see all 60)
    6-methylthioguanine 91.8 25 9681671 (4), 15588444 (2), 14630365 (2), 19695401 (1) (see all 6)
    azathioprine 91.7 599 12192200 (8), 7857117 (7), 10628931 (7), 10727309 (6) (see all 99)
    inosine triphosphate 91.5 28 16431304 (2), 19960028 (2), 18090994 (2), 16880012 (2) (see all 13)
    trimethylolpropane trimethacrylate 90.6 4 16886902 (2), 11995359 (1), 18563949 (1)
    azathioprine 90.3 190 20066544 (8), 15118980 (8), 19663853 (5), 18693152 (5) (see all 55)
    3,4-dimethoxy-5-hydroxybenzoic acid 81.3 3 1510725 (1), 1981712 (1)

    6 PharmGKB related drug/compound annotations for TPMT gene    About this table
    Drug/compound PharmGKB Annotation
    azathioprine  CA  
    cisplatin  CA  
    cyclophosphamideCA  
    mercaptopurine  CA  
    purine analoguesCA  
    thioguanine  CA  



    Find genes that share compounds with TPMT           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TPMT gene: 
    NM_000367.2  

    Unigene Cluster for TPMT:

    Thiopurine S-methyltransferase
    Hs.444319  [show with all ESTs]
    Unigene Representative Sequence: NM_000367
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000309983(uc003ncm.3 uc010jpm.1)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidTPMT 3' UTR sequence
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    Additional mRNA sequence: 

    AF021876.1 AF021877.1 AK310420.1 BC005339.1 BC009596.1 S62904.1 U12387.1 

    9 DOTS entries:

    DT.40229878  DT.100794976  DT.100794972  DT.304872  DT.121390773  DT.92438220  DT.121390784  DT.121390792 
    DT.95290455 

    Selected AceView cDNA sequences (see all 160):

    CA306131 BI966707 AA746081 BM454559 AA825975 U12387 CB163401 BU726277 
    AW591638 CB154844 AA291185 CK903373 AA284103 BQ778222 AI365341 AW950465 
    CB118654 BQ027068 AA356473 AJ714224 BM969125 AW470279 AV651022 BM916704 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TPMT (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c
    SP1:                                -           -                                 
    SP2:                                -                                             
    SP3:                                -           -     -                           
    SP4:                                -                                             
    SP5:                                                                              


    ECgene alternative splicing isoforms for TPMT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TPMT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATTATTT
    TPMT Expression
    About this image


    TPMT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Node
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Brain (Nervous System)
             Cerebellum
    TPMT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TPMT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444319
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TPMT: 
              Cancer Drug Resistance in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPMT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TPMT gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tpmt1 , 5 thiopurine methyltransferase1, 5 82.43(n)1
    79.08(a)1
      13 (24.50 cM)5
    220171  NM_016785.21  NP_058065.21 
     470251705 
    chicken
    (Gallus gallus)
    Aves TPMT1 thiopurine S-methyltransferase 65.19(n)
    58.85(a)
      420830  XM_418921.4  XP_418921.1 
    lizard
    (Anolis carolinensis)
    Reptilia TPMT6
    thiopurine S-methyltransferase
    48(a)
    1 ↔ 1
    4(56922935-56939755)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.240402 Xenopus laevis transcribed sequence with weak similarity more 77.28(n)    BM928956.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1099811 zgc:109981 55.41(n)
    53.07(a)
      436842  NM_001002569.2  NP_001002569.2 


    ENSEMBL Gene Tree for TPMT (if available)
    TreeFam Gene Tree for TPMT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TPMT gene
    1 SIMAP similar gene for TPMT using alignment to 2 protein entries:     TPMT_HUMAN (see all proteins):
    pseudoTPMT

    Find genes that share paralogs with TPMT           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for TPMT
    PGOHUM00000235052 PGOHUM00000237600 PGOHUM00000241300 PGOHUM00000241424


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    TPMT_HUMAN, P51580: Individual variation in the toxicity and therapeutic efficacy of thiopurine drugs is associated with
    a common genetic polymorphism that controls levels of TPMT activity. Genetic polymorphism in the TPMT gene is
    such that about 90% of Caucasians have high TPMT activity, 10% have intermediate activity and 1 in 300
    individuals has low activity. TPMT activity varies among ethnic groups
    TPMT_HUMAN, P51580: TPMT*3A is the only mutant allele found in the South West Asians. This is also the most common
    mutant allele in the Caucasians but is not found in the Chinese. All mutant alleles identified in the Chinese
    population were TPMT*3C. This allele is found at a low frequency in the Caucasians. This suggests that TPMT*3C is
    the oldest mutation, with TPMT*3B being acquired later to form the TPMT*3A allele in the Caucasian and South West
    Asian populations. TPMT*2 appears to be a more recent allele, which has only been detected in Caucasians to date.
    These ethnic differences may be important in the clinical use of thiopurine drugs


    Selected SNPs for TPMT (see all 675)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs11423451,2,,4
    C,F,HThiopurine S-methyltransferase deficiency (TPMT deficiency)4 pathogenic118054373(-) GTTATA/GTCTAC 2 Y C mis133Minor allele frequency- G:0.04MN NS EA WA NA EU 10802
    rs561614021,2,,4
    C,FThiopurine S-methyltransferase deficiency (TPMT deficiency)4 pathogenic118054448(+) GACRAC/TGTATA 2 H R mis111Minor allele frequency- T:0.01MN WA EA NA 6542
    rs18004601,2,,4
    C,FThiopurine S-methyltransferase deficiency (TPMT deficiency)4 pathogenic118062684(-) GAGGAG/ACATTA 2 /T /A mis112Minor allele frequency- A:0.03NA MN WA EA EU 7971
    rs18004621,2,,4
    C,FThiopurine S-methyltransferase deficiency (TPMT deficiency)4 drug-response118067410(-) GGTTTG/CCAGAC 2 /P /A mis13Minor allele frequency- C:0.00NA EU 5673
    rs744232901,2
    Cpathogenic118057571(-) CTATGC/GAGATA 2 A G mis11Minor allele frequency- G:0.00EU 400
    rs560199661,2
    Cuntested118062728(+) TCCTAC/TCAGAA 1 -- int10--------
    rs786315841,2
    C,F--18051656(+) TGCTGC/GCAATG 1 -- ds50012Minor allele frequency- G:0.04WA NA 238
    rs1163752451,2
    C,F--18051667(+) AATCCC/TGTCAG 1 -- ds50012Minor allele frequency- T:0.04NA EA 240
    rs781064781,2
    C--18051735(+) TCTTTA/CTGGAG 1 -- ds50010--------
    rs1441139151,2
    C--18051835(+) TATTAC/TGTACC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for TPMT (18128542 - 18155374 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TPMT:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2731634CNV Deletion23290073
    nsv883460CNV Gain21882294

    Human Gene Mutation Database (HGMD): TPMT
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TPMT
    DNA2.0 Custom Variant and Variant Library Synthesis for TPMT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 187680   
    OMIM disorders: 610460  
    UniProtKB/Swiss-Prot: TPMT_HUMAN, P51580
  • Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460]: Enzyme involved in the normal
    metabolic inactivation of thiopurine drugs. These drugs are generally used as immunosuppressants or cytotoxic
    drugs and are prescribed for a variety of clinical conditions including leukemia, autoimmune disease and organ
    transplantation. Patients with intermediate or no TPMT activity are at risk of toxicity after receiving standard
    doses of thiopurine drugs and it is shown that inter-individual differences in response to these drugs are
    largely determined by genetic variation at the TPMT locus. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 9 diseases for TPMT:    
    About MalaCards
    pancytopenia    thiopurine s methyltranferase deficiency    inosine triphosphate pyrophosphohydrolase deficiency    dyshidrosis
    leukopenia    autoimmune hepatitis    nodular regenerative hyperplasia    invasive aspergillosis
    uremia

    6 diseases from the University of Copenhagen DISEASES database for TPMT:
    Inflammatory bowel disease     Leukopenia     Pancytopenia     Leukemia
    Dyshidrosis     Autoimmune hepatitis

    Find genes that share disorders with TPMT           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TPMT gene (see all 47)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inflammatory bowel diseases 80.8 106 12812701 (5), 11876691 (5), 15352906 (3), 12021625 (3) (see all 53)
    leukopenia 70 47 16431304 (4), 19390192 (3), 12192200 (3), 20081263 (3) (see all 23)
    lymphoblastic leukemia acute 69.2 38 1960624 (3), 16886902 (2), 18987654 (1), 20021291 (1) (see all 22)
    lymphoblastic leukemia acute childhood 65.7 10 17164697 (2), 18987654 (1), 10764140 (1), 19535798 (1) (see all 6)
    colitis ulcerative 61.6 13 11927101 (3), 11007234 (2), 16795981 (2), 19217567 (1) (see all 8)
    pancytopenia 59.5 12 11037857 (2), 12172211 (2), 12454589 (1), 16995868 (1) (see all 6)
    hepatitis autoimmune 58.5 17 14588189 (3), 8551001 (2), 12217596 (2), 16876902 (2) (see all 10)
    depression bone marrow 55 6 17074104 (2), 9086303 (1), 18520612 (1), 20101557 (1)
    leukemia 50 35 19177822 (2), 16041371 (2), 15737567 (2), 11108431 (1) (see all 24)
    neutropenia 48.9 16 18685564 (2), 18601797 (2), 20081263 (2), 18662289 (1) (see all 10)

    Genetic Association Database (GAD): TPMT
    Human Genome Epidemiology (HuGE) Navigator: TPMT (150 documents)

    Export disorders for TPMT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TPMT gene, integrated from 10 sources (see all 560):
    (articles sorted by number of sources associating them with TPMT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human thiopurine methyltransferase: molecular cloning and expression of T84 colon carcinoma cell cDNA. (PubMed id 8316220)1, 2, 3, 9 Honchel R.... Weinshilboum R.M. (Mol. Pharmacol. 1993)
    2. Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia. (PubMed id 16789994)1, 2, 4, 9 Rossino R.... Congia M. (J. Clin. Pharm. Ther. 2006)
    3. Molecular analysis of thiopurine S-methyltransferase alleles in Taiwan aborigines and Taiwanese. (PubMed id 16476125)1, 2, 4, 9 Lu H.-F....Chang J.-G. (J. Clin. Pharm. Ther. 2006)
    4. Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population. (PubMed id 10751626)1, 2, 4, 9 Hiratsuka M.... Mizugaki M. (Mutat. Res. 2000)
    5. Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. (PubMed id 8561894)1, 2, 9 Szumlanski C.... Weinshilboum R.M. (DNA Cell Biol. 1996)
    6. Efficient screening method of the thiopurine methyltransferase polymorphisms for patients considering taking thiopurine drugs in a Chinese Han population in Henan Province (central China). (PubMed id 16952345)1, 4, 9 Zhang L.R....Xing D.L. ( international journal of clinical chemistry 2007)
    7. Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT*3A, TPMT*2): mechanisms for the genetic polymorphism of TPMT activity. (PubMed id 9177237)1, 2, 9 Tai H.-L.... Evans W.E. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    8. Thiopurine S-methyltransferase pharmacogenetics in a large-scale healthy Italian-Caucasian population: differences in enzyme activity. (PubMed id 19891552)1, 4, 9 Serpe L....Canaparo R. (Pharmacogenomics 2009)
    9. Are patients with intermediate TPMT activity at increased risk of myelosuppression when taking thiopurine medications? (PubMed id 20136357)1, 4, 9 Higgs J.E....Newman W.G. (Pharmacogenomics 2010)
    10. Phenotyping and genotyping study of thiopurine S-methyltransferase in healthy Chinese children: a comparison of Han and Yao ethnic groups. (PubMed id 15255798)1, 4, 9 Zhang J.P....Huang M. (Br J Clin Pharmacol 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7172 HGNC: 12014 AceView: TPMT Ensembl:ENSG00000137364 euGenes: HUgn7172
    ECgene: TPMT Kegg: 7172 H-InvDB: TPMT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TPMT Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TPMT Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TPMT gene:
    Search GeneIP for patents involving TPMT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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