TPMT - thiopurine S-methyltransferase Gene

Also Known as TPMTD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7172

About TPMT

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:18,128,311-18,155,169 (from NCBI)

This gene has 1 transcript (splice variant), 209 orthologues and is associated with 1 phenotype. Broad expression in thyroid (RPKM 38.6), kidney (RPKM 27.8) and 24 other tissues.

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]

TPMT Products (3)

mRNA	Protein	Name
NM_000367.5	NP_000358.1	thiopurine S-methyltransferase isoform 1
NM_001346817.1	NP_001333746.1	thiopurine S-methyltransferase isoform 1
NM_001346818.1	NP_001333747.1	thiopurine S-methyltransferase isoform 2

TPMT Protein Structure

TPMT

0
100
200
245 a.a.

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

TPMT Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	TPMT	P51580	YWHAG	Homo sapiens	P61981	Y2H Pooling	32814053
Intra	TPMT	P51580	YWHAG	Homo sapiens	P61981	Validated Y2H	32814053
Intra	TPMT	P51580	YWHAG	Homo sapiens	P61981	Y2H Array	32814053
Intra	TPMT	P51580	SETDB1	Homo sapiens	Q15047-2	Y2H Array	32814053
Intra	TPMT	P51580	SETDB1	Homo sapiens	Q15047-2	Y2H Pooling	32814053
Intra	TPMT	P51580	SETDB1	Homo sapiens	Q15047-2	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

TPMT Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P83538	TPMT Antibody (YA3283)	WB, IHC-P, IP	Human
HY-P83538A	TPMT Antibody (YA3283)(PBS only)	WB, IHC-P, IP	Human

Related Diseases

Diseases	Alias
Thiopurines, Poor Metabolism Of, 1	Thiopurine S-Methyltransferase Deficiency Tpmt Deficiency Thiopurine Methyltransferase Deficiency Thiopurine S Methyltranferase Deficiency THPM1 Tpmtd Poor Metabolism Of Thiopurines-1 6-Mercaptopurine Sensitivity Thiopurines, Poor Metabolism Of Poor Metabolism Of Thiopurines
Neutropenia	Leukopenia
Autoimmune Hepatitis	Aih Hepatitis, Autoimmune Autoimmune Chronic Active Hepatitis Autoimmune Hepatitis With Centrilobular Necrosis Autoimmune Chronic Hepatitis Hepatitis Autoimmune
Pancytopenia
Childhood Acute Lymphocytic Leukemia	Childhood Acute Lymphoblastic Leukemia Childhood All Pediatric Acute Lymphoblastic Leukemia Lymphoblastic Leukemia Acute Childhood
Drug Allergy	Allergy Drug Drug Allergies
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Ulcerative Colitis	Colitis Gravis Left Sided Ulcerative Colitis Left-Sided Ulcerative Colitis Idiopathic Proctocolitis Inflammatory Bowel Disease, Ulcerative Colitis Type Uc Colitis Ulcerative Colitis, Ulcerative Chronic Left-Sided Ulcerative Colitis Uc - [Ulcerative Colitis] Chronic Ulcerative Enteritis Mucosal Proctocolitis Ulcerative Mucosal Proctocolitis Left Hemicolitis
Acute Leukemia	Stem Cell Leukaemia Stem Cell Leukemia Acute Leukemias Acute Undifferentiated Leukemia Undifferentiated Leukemia Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission Blast Cell Leukaemia Blast Leukaemia Blastic Leukaemia Undifferentiated Leukaemia
Gilbert Syndrome	Gilbert Disease Gilbert'S Disease Gilbert'S Syndrome Cholemia, Familial Familial Nonhemolytic Jaundice Meulengracht Syndrome Gilbert Syndrome, Susceptibility To Hyperbilirubinemia, Gilbert Type Hblrg Hyperbilirubinemia, Arias Type Hyperbilirubinemia I Constitutional Hyperbilirubinemia Gilbert-Meulengracht Syndrome Hereditary Nonhemolytic Jaundice Hyperbilirubinemia Arias Type Hyperbilirubinemia Type 1 Constitutional Liver Dysfunction Gilbert-Lereboullet Syndrome Hyperbilirubinemia 1 Unconjugated Benign Bilirubinemia GILBS Gilberts Syndrome Familial Nonhaemolytic Jaundice Constitutional Hyperbilirubinaemia Hereditary Nonhaemolytic Bilirubinaemia Familial Nonhaemolytic Bilirubinaemia Idiopathic Hyperbilirubinaemia Icterus Intermittens Juvenilis Chronic Intermittent Juvenile Jaundice Low-Grade Chronic Hyperbilirubinaemia Syndrome Benign Unconjugated Bilirubinaemia Syndrome Hereditary Nonhaemolytic Jaundice Idiopathic Unconjugated Hyperbilirubinaemia Gilbert--Lereboullet Syndrome Constitutional Hepatic Dysfunction Meulengracht Icterus Cholaemia Familiaris Simplex Familial Cholaemia Congenital Familial Cholaemia Physiologic Cholaemia Hyperbilirubinaemia Type 1 Gilbert Cholaemia
Coumarin Resistance	Warfarin Resistance Warfarin Sensitivity Coumadin Sensitivity Warfarin Response Poor Metabolism Of Coumarin Coumarin, Poor Metabolism Of CMRES
Peliosis Hepatis	Hepatic Peliosis Telangiectasis Of Liver Angiomatosis Of Liver Ph - [Peliosis Hepatis] Hepatic Angiomatosis
Hepatic Veno-Occlusive Disease	Veno-Occlusive Disease Sinusoidal Obstruction Syndrome Hepatic Venoocclusive Disease Venoocclusive Disease Hepatic Vein Thrombosis Budd-Chiari Syndrome Hepatic Vein Occlusion Veno-Occlusive Disease Of The Liver
Leukemia, Acute Lymphoblastic	Acute Lymphoblastic Leukemia ALL Acute Lymphocytic Leukemia Leukemia, Acute Lymphocytic, Susceptibility To, 1 Acute Lymphoblastic Leukaemia Precursor Lymphoblastic Lymphoma/Leukemia Precursor Lymphoid Neoplasm Leukemia, Acute Lymphoblastic, Susceptibility To B-Cell Acute Lymphoblastic Leukemia Leukemia, Acute Lymphocytic 1 Acute Lymphocytic Leukaemia Acute Lymphoblastic Leukemia/Lymphoma All1 Childhood Acute Lymphoblastic Leukemia Leukemia Acute Lymphoblastic 1 Leukemia Acute Lymphoblastic B-Hyperdiploid Leukemia Acute Lymphocytic Leukemia Acute Lymphocytic 1 Leukemia B-Cell Acute Lymphoblastic Leukemia T-Cell Acute Lymphoblastic Leukemia, Acute Lymphoblastic, 3 ALL3 Lymphoblastic Leukemia Acute Leukemia, Acute, Lymphoblastic Precursor Cell Lymphoblastic Leukemia Lymphoma Leukemia, Lymphocytic, Acute, L1 Leukemia, Acute Lymphoblastic, Susceptibility To, 3
Gastroduodenal Crohn'S Disease	Upper Gi Crohn'S Disease
Hepatosplenic T-Cell Lymphoma	Doid:0081049
Severe Cutaneous Adverse Reaction	Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Drug-Induced Stevens Johnson Syndrome Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum Susceptibility To Severe Cutaneous Adverse Reaction Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Lyell'S Syndrome Lyell Syndrome Severe Cutaneous Adverse Reaction, Susceptibility To Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To Hypersensitivity Syndrome, Carbamazepine-Induced Stevens-Johnson Syndrome, Susceptibility To Toxic Epidermal Necrolysis, Susceptibility To Sjs/Ten Susceptibility To Severe Cutaneous Adverse Reaction Ity To Mycoplasma-Induced Stevens Johnson Syndrome Dermatostomatitis, Stevens Johnson Type Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum Sjs-Ten Toxic Epidermolysis SJS Dermatostomatitis Stevens Johnson Type Ten Sjs/Ten - [Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis] Ten - [Toxic Epidermal Necrolysis]
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Granulomatosis With Polyangiitis	GPA Wegener Granulomatosis Wegener Granulomatosis, Formerly Midline Granulomatosis Wg, Formerly Necrotizing Respiratory Granulomatosis Wg Wegeners Granulomatosis Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis
Dermatitis, Atopic	Atopic Dermatitis Atopic Eczema Dermatitis, Atopic, Susceptibility To, 1 Atod Eczema, Atopic Dermatitis, Atopic 1 Allergic Dermatitis Atopic Neurodermatitis Besnier'S Prurigo Dermatitis, Atopic, 1 Dermatitis Atopic Eczema Besnier Prurigo
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS14940	TPMT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-134062	7-Methyl-6-mercaptopurine		/	Unkown
HY-RS18794	Tpmt Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25283	Tpmt Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TPMT	VGNC	VGNC:66479
Mus musculus	TPMT	MGD	MGI:98812
Bos taurus	TPMT	VGNC	VGNC:36255
Canis familiaris	TPMT	VGNC	VGNC:47745
Macaca mulatta	TPMT	VGNC	VGNC:83512
Rattus norvegicus	TPMT	RGD	RGD:1585162
Others	TPMT	NCBI