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TPMT Gene

protein-coding GIFtS: 68

GC06M018236

thiopurine S-methyltransferase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
EC 2.1.1.67 ^³
OTTHUMP00000016076 ^²

Descriptions
S-adenosyl-L-methionine:thiopurine S-methyltransferase ^²
Thiopurine methyltransferase ^³
thiopurine S-methyltransferase ^²

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

Search outside databases for aliases for TPMT gene

Previous GC identifer: GC06M018186

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for TPMT:

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]

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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the TPMT gene

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)

GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M018236: (about GC identifiers)

Start:	18,236,521 bp from pter
End:	18,263,353 bp from pter
Size:	26,833 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000006.10 NT_007592.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: TPMT_HUMAN, P51580 (See protein sequence)

Recommended Name: Thiopurine S-methyltransferase

Size: 245 amino acids; 28180 Da

Subunit: Monomer

Subcellular location: Cytoplasm

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 protein encoded by TPMT*2 and TPMT*3A mutant alleles are degradated more rapidely by an

ATP-dependent proteasome-mediated pathway

PDB structure from and Proteopedia :

2BZG (3D)

2H11 (3D)

Secondary accessions: O14806 O15423 O15424 O15425 O15426 O15515 O15548 O43213 Q5VUK6 Q9UBE6 Q9UBT8

Q9UE62

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000358.1

ENSEMBL proteins:

ENSP00000312304

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (TPMT)
	Human Recombinant Proteins from Abnova (TPMT)

OriGene Purified Recombinant Human Protein: TPMT

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005829	cytosol	IEA	--

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Antibodies for TPMT:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for TPMT
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (TPMT), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (TPMT)
	Novus Biologicals Antibodies for TPMT

Assays for TPMT:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P51580

ProtoNet protein and cluster: P51580

1 Blocks protein family: IPB008854 Thiopurine S-methyltransferase

UniProtKB/Swiss-Prot: TPMT_HUMAN, P51580

Similarity: Belongs to the methyltransferase superfamily. TPMT family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TPMT)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TPMT)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000367

Applied Biosystems Silencer® siRNAs for TPMT

Sigma-Aldrich siRNA for TPMT

Sigma-Aldrich shRNA for TPMT

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for TPMT
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000367
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000367
untagged cDNA clone in CMV expression vector: NM_000367

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000367

UniProtKB/Swiss-Prot: 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)

Enzyme Number (IUBMB): EC 2.1.1.67

Genatlas biochemistry entry for TPMT:

thiopurine methyltransferase,cytosolic,catalyzing the S-methylation of thiopurine drugs

5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tpmt):

growth/size

hematopoietic system

homeostasis/metabolism

life span-post-weaning/aging

reproductive system

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008119	thiopurine S-methyltransferase activity	TAS	8316220
GO:0008168	methyltransferase activity	IEA	--
GO:0016740	transferase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for TPMT

5/11 Interacting proteins for TPMT (ENSP00000312304³) via UniProtKB, MINT, and/or STRING (see all 11 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AHCY	ENSP00000217426³	STRING (score=.904)
GGH	ENSP00000260118³	STRING (score=.836)
TG	ENSP00000220616³	STRING (score=.794)
ITPA	ENSP00000369456³	STRING (score=.75)
DPYD	ENSP00000359211³	STRING (score=.748)

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4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006139	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	TAS	8316220
GO:0008152	metabolic process	IEA	--
GO:0046498	S-adenosylhomocysteine metabolic process	IEA	--
GO:0046500	S-adenosylmethionine metabolic process	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for TPMT
10/20 Novoseek chemical compound relationships for TPMT gene (see all 20 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
6-thioguanine nucleotide	93.47	34	11856081 (3), 16633046 (3), 8721407 (2), 9200774 (2) (see all 14)
6-methylthioguanine	91.36	24	9681671 (4), 15588444 (2), 14630365 (2), 11417444 (1) (see all 5)
inosine triphosphate	90.83	21	16431304 (2), 18090994 (2), 16880012 (2), 17697207 (2) (see all 10)
trimethylolpropane trimethacrylate	89.91	4	16886902 (2), 11995359 (1), 18563949 (1)
azathioprine	88.62	116	18693152 (5), 19217567 (4), 17334911 (4), 19229528 (4) (see all 36)
3,4-dimethoxy-5-hydroxybenzoic acid	81.85	3	1510725 (1), 1981712 (1)
6-thiouric acid	75.86	9	18557988 (2), 1585469 (1)
6-methylthiopurine	74.36	1	11927101 (1)
uridine diphosphate	68.49	16	9893619 (1), 11822749 (1), 17549068 (1), 18370231 (1) (see all 8)
s-adenosylmethionine	63.99	35	19428339 (5), 18484748 (2), 14556746 (2), 15379558 (2) (see all 14)

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10/17 PharmGKB drug compound relationships for TPMT gene (see all 17 )

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
6-mercaptopurine	CO PD PK FA GN	11259360 3467886 10216075 12972954 15083069 20225210 7603453 7682415 8347177 3838480 9246020 10764140 9103127 7802704 8857546 7998928 7191632
6-thioguanine	PD PK FA GN	20225210 7603453 8347177 9246020 10764140 7802704 8857546
antineoplastic agents	GN	9634537
asparaginase	CO	15713801
azathioprine	CO PD PK FA GN	11966406 12172211 9841604 11304783 96220220 92071833 97243270 95166809 9780130 21201291 9103127
cefazolin	PD GN	12228189
cytarabine	CO	15713801
daunorubicin	CO	15713801
etoposide	CO PD PK	9529129 15713801
mercaptopurine	CO PD PK FA GN	12269967 95166809 92071833 21201291 96220220 97243270 11479220 11304783 10406363 9529129 15713801

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TPMT)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TPMT)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000367

Sigma-Aldrich siRNA for TPMT

Sigma-Aldrich shRNA for TPMT

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000367

REFSEQ mRNAs for TPMT gene:

NM_000367.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000367

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000367
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000367
                                 untagged cDNA clone in CMV expression vector: NM_000367

Additional cDNA 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

24/160 AceView cDNA sequences (see all 160 ):

AW950465 CB163401 AA291185 AA746081 AA356473 BM969125 AI365341 CA306131

U12387 BU726277 CB154844 BI966707 BQ778222 CK903373 CB118654 AA284103

AW591638 BQ027068 AA825975 AJ714224 BM454559 BI962859 BI598325 BI258299

highest scoring ESTs for TPMT:

AL598978 AL601228 AV733154 BC005339 BC009596 BF184993 BF208135 BF218680 BF238473 BF248293

Unigene Cluster for TPMT:

Thiopurine S-methyltransferase

Hs.444319 [show with all ESTs]

Unigene Representative Sequence: NM_000367

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for TPMT (see all 7 )

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

About this scheme

ECgene alternative splicing isoforms for TPMT

1 Ensembl transcript including schematic representation:

ENST00000309983

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

TPMT expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for TPMT

¹ / ² / ³

5 probe-sets matching TPMT gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
32810_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	AF019369	0.20	1.00	0.72	1
203671_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BF196891	0.40	1.00	0.76	1
203672_x_at²^{, 3}	U133-A	134	1.00	0.59	--	--	U12387	0.80	1.00	0.91	1
203671_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203672_x_at²	U133Plus2	134	1.00	0.59	--	--	--	--	--	--	--

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TAAATTATTT

SOURCE GeneReport for Unigene cluster: Hs.444319
Expression variation in blood from EXPOLDB for TPMT

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for TPMT gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	TPMT¹	--	thiopurine S-methyltransferase	84.49(n) 81.22(a)	403536 NM_001003015.1 NP_001003015.1
chimpanzee (Pan troglodytes)	TPMT¹	--	thiopurine S-methyltransferase	99.46(n) 99.18(a)	471863 NM_001035519.1 NP_001030596.1
cow (Bos taurus)	TPMT¹	--	thiopurine S-methyltransferase	84.08(n) 77.14(a)	511644 NM_001075531.1 NP_001068999.1
rat (Rattus norvegicus)	Tpmt¹	--	thiopurine S-methyltransferase	81.87(n) 78.66(a)	690050 XM_001073048.1 XP_001073048.1
mouse (Mus musculus)	Tpmt^{1, 5}	13 (28.00 cM)⁵	thiopurine methyltransferase^{1, 5}	82.57(n)¹ 78.66(a)¹	22017¹ NM_016785.1¹ NP_058065.1¹ AF037043⁵ AF037044⁵ (see all 24)

About this table Species with no ortholog for TPMT

ENSEMBL Gene Tree for TPMT

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Pseudogenes

3 related pseudogenes

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: TPMT_HUMAN, P51580

Polymorphism: 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

Polymorphism: 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

10/216 NCBI SNPs in TPMT are shown (see all 216 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 63)

AB	SNP ID	Valid	Chr 6 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs7886^1,2	A,C,F,H	18236638(+)	`ATAAAA/TGATCA`	1	--	ut3¹		16		MN EA NA EU WA	1600
	rs1142345^1,2	C,F,H	18238897(-)	`GTTATA/GTCTAC`	1	Y/C	mis¹		10		EU EA WA	1152
--	rs6921269^1,2	F,H	18242057(+)	`AGATAC/ATGAAA`	1	H/Q	mis¹		4		EU EA WA	406
	rs1800460^1,2	C,F	18247207(-)	`GAGGAG/ACATTA`	1	T/A	mis¹		3		--	794
--	rs9465100^1,2	A	18237274(+)	`tgagaC/Tcctgt`	1	--	ut3¹ ese³		0	--	--	--	--
--	rs1142373^1,2	F	18237067(-)	`CTGTAA/GTCCCA`	1	--	ut3¹		1		MN	184
	rs9333569^1,2	H	18257337(-)	`AAACTA/GTGGAT`	1	V	mis¹ ese³		4		EU EA WA	402
--	rs1142371^1,2	F	18237078(-)	`GTGGCG/ACGTGC`	1	--	ut3¹		1		MN	184
--	rs1142378^1,2	C	18236978(-)	`cacgcA/Cagcct`	1	--	ut3¹		0	--	--	--	--
	rs2842934^1,2	A,C,F,H,O	18247193(+)	`GGATTA/GATGGC`	1	I/I	syn¹ ese³		10		EU EA WA NA	1084

About this table

HapMap Linkage Disequilibrium images for TPMT (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 187680 disorders: 610460

UniProtKB/Swiss-Prot: TPMT_HUMAN, P51580

Defects in TPMT are the cause of thiopurine S-methyltransferase deficiency (TPMT

deficiency) [MIM:610460]. TPMT is an enzyme involved in the normal metabolic inactivation of

thiopurine drugs. These drugs are generally used as immunosupressants 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

10/46 Novoseek disease relationships for TPMT gene (see all 46 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
inflammatory bowel diseases	80.20	99	12812701 (5), 11876691 (5), 15352906 (3), 12021625 (3) (see all 48)
lymphoblastic leukemia acute	67.18	35	1960624 (3), 16886902 (2), 18987654 (1), 11037857 (1) (see all 20)
leukopenia	66.25	31	16431304 (4), 12192200 (3), 16044099 (2), 7857117 (2) (see all 16)
lymphoblastic leukemia acute childhood	63.77	9	17164697 (2), 18987654 (1), 10764140 (1), 12142782 (1) (see all 5)
colitis ulcerative	60.39	13	11927101 (3), 11007234 (2), 16795981 (2), 19217567 (1) (see all 8)
hepatitis autoimmune	58.86	16	14588189 (3), 8551001 (2), 12217596 (2), 16876902 (2) (see all 9)
pancytopenia	58.40	12	11037857 (2), 12172211 (2), 12454589 (1), 16995868 (1) (see all 6)
depression bone marrow	52.03	5	17074104 (2), 9086303 (1), 18520612 (1)
leukemia	49.03	34	19177822 (2), 16041371 (2), 15737567 (2), 11108431 (1) (see all 23)
enzyme deficiency	45.95	4	15228163 (1), 10833476 (1), 11701642 (1)

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10/13 PharmGKB disease relationships for TPMT gene (see all 13 )

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
ALL (acute lymphoblastic leukemia)	FA	9510461
Chron's disease, hematological cancer	CO PK GN	12269967
Inflammatory Bowel Diseases	PD	12172211
Leukemia	FA	11479220
Leukemia, Lymphocytic	CO PK GN	10406363
Leukemia, Lymphocytic, Acute	CO PD PK GN	3467886 10216075 20225210 9529129
Leukemia, Lymphocytic, Acute, L1	CO	15713801 15543619
Leukemia, Myelocytic, Acute	CO PD PK	9529129
Neoplasms	CO PD PK GN	9634537 97243270 11304783
Neoplasms, Radiation-Induced	CO PK GN	10406363

About this table

Human Gene Mutation Database: TPMT
Genetic Association Database: TPMT
Human Genome Epidemiology Navigator: TPMT (104 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/406 PubMed articles for TPMT gene (see all 406 ):

Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: impact of thiopurine S-methyltransferase polymorphism. (PubMed id 12172211)^{1, 3, 6, 7} Schwab M....Kaskas B.A. (2002)
Human thiopurine methyltransferase: molecular cloning and expression of T84 colon carcinoma cell cDNA. (PubMed id 8316220)^{1, 2, 3, 4} Honchel R.... Weinshilboum R.M. (1993)
Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population. (PubMed id 10751626)^{3, 4, 6} Hiratsuka M.... Mizugaki M. (2000)
Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. (PubMed id 9103127)^{1, 3, 7} Yates C.R....Evans W.E. (1997)
Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. (PubMed id 9246020)^{3, 4, 7} Otterness D....Weinshilboum R. (1997)
Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. (PubMed id 8561894)^{1, 3, 4} Szumlanski C.... Weinshilboum R. (1996)
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, 3, 4} Tai H.-L.... Evans W.E. (1997)
Phenotyping and genotyping study of thiopurine S-methyltransferase in healthy Chinese children: a comparison of Han and Yao ethnic groups. (PubMed id 15255798)^{1, 3, 6} Zhang J.P....Huang M. (2004)
Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants. (PubMed id 15226673)^{1, 3, 6} Schaeffeler E....Schwab M. (2004)
Thiopurine methyltransferase (TPMT) heterozygosity and enzyme activity as predictive tests for the development of azathioprine-related adverse events. (PubMed id 15792824)^{1, 3, 6} Heckmann J.M....Owen E.P. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 7172	HGNC: 12014	AceView: TPMT	Ensembl:ENSG00000137364	euGenes: HUgn7172
ECgene: TPMT	H-InvDB: TPMT

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for TPMT	Genetics and Cytogenetics in Oncology and Haematology

Licensable Technologies for TPMT
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for TPMT:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for TPMT-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for TPMT		Antibodies for TPMT
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for TPMT		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (TPMT)
	Antibodies (TPMT)
	Chimera RNAi (TPMT)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (TPMT)
	Antibodies (TPMT)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for TPMT

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for TPMT

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
TPMT Gene at Home site.
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TPMT Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for TPMT

Summaries
for TPMT

Genomic Location
for TPMT

Proteins
for TPMT

Protein Domains/
Families
for TPMT

Gene Function
for TPMT

Pathways & Interactions
for TPMT

Drugs & Compounds
for TPMT

Transcripts
for TPMT

Expression
for TPMT

Orthologs
for TPMT

Paralogs
for TPMT

SNPs/Variants
for TPMT

Disorders & Mutations
for TPMT

Medical News
for TPMT

Publications
for TPMT

Search for TPMT

Genome Databases showing TPMT

Other Databases showing TPMT

Specialized Databases showing TPMT

Licensable Technologies
for TPMT

Services
for TPMT

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TPMT Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor TPMT

Summariesfor TPMT

Genomic Locationfor TPMT

Proteinsfor TPMT

Protein Domains/Familiesfor TPMT

Gene Functionfor TPMT

Pathways & Interactionsfor TPMT

Drugs & Compoundsfor TPMT

Transcriptsfor TPMT

Expression for TPMT

Orthologsfor TPMT

Paralogsfor TPMT

SNPs/Variantsfor TPMT

Disorders & Mutationsfor TPMT

Medical Newsfor TPMT

Publicationsfor TPMT

Search for TPMT

Genome Databases showing TPMT

Other Databases showing TPMT

Specialized Databases showing TPMT

Licensable Technologiesfor TPMT

Servicesfor TPMT

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for TPMT

Summaries
for TPMT

Genomic Location
for TPMT

Proteins
for TPMT

Protein Domains/
Families
for TPMT

Gene Function
for TPMT

Pathways & Interactions
for TPMT

Drugs & Compounds
for TPMT

Transcripts
for TPMT

Expression
for TPMT

Orthologs
for TPMT

Paralogs
for TPMT

SNPs/Variants
for TPMT

Disorders & Mutations
for TPMT

Medical News
for TPMT

Publications
for TPMT

Licensable Technologies
for TPMT

Services
for TPMT