TPMT - thiopurine S-methyltransferase Gene

Homo sapiens

Also known as TPMTD

Gene ID: 7172 | Gene type: protein coding

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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-134062	7-Methyl-6-mercaptopurine		/	Unkown
HY-RS14940	TPMT Human Pre-designed siRNA Set A		/	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

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