TPMT (thiopurine S-methyltransferase) — Gene

What This Gene Does

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]

Gene Info

Gene Group

"7BS small molecule methyltransferases|Small molecule methyltransferases"

Locus Type

gene with protein product

Location

6p22.3

Ensembl

ENSG00000137364

Associated Conditions (5)

Thiopurine response

Thiopurine S-methyltransferase deficiency

Chronic lymphocytic leukemia/small lymphocytic lymphoma

Azathioprine response

TPMT-related disorder

Key Variants

RS1256618794

drug response

Thiopurine response, Thiopurine response

Drug Response

RS1800462

drug response

Thiopurine S-methyltransferase deficiency, Thiopurine S-methyltransferase deficiency

Drug Response

RS1800584

drug response

Thiopurine S-methyltransferase deficiency, Chronic lymphocytic leukemia/small lymphocytic lymphoma, Thiopurine S-methyltransferase deficiency

Drug Response

RS201695576

drug response

Thiopurine response, Thiopurine response

Drug Response

RS56161402

drug response

Thiopurine S-methyltransferase deficiency, Thiopurine S-methyltransferase deficiency

Drug Response

RS74423290

drug response

Thiopurine S-methyltransferase deficiency, Thiopurine S-methyltransferase deficiency

Drug Response

RS753545734

drug response

Thiopurine response, Thiopurine response

Drug Response

RS759836180

drug response

Thiopurine response, Thiopurine response

Drug Response

RS56019966

Likely benign; drug response

Azathioprine response, TPMT-related disorder, Azathioprine response

Drug Response

All Variants (9)

RSID	Category	Clinical Significance	Conditions
RS1256618794	Drug Response	drug response	Thiopurine response, Thiopurine response
RS1800462	Drug Response	drug response	Thiopurine S-methyltransferase deficiency, Thiopurine S-methyltransferase deficiency
RS1800584	Drug Response	drug response	Thiopurine S-methyltransferase deficiency, Chronic lymphocytic leukemia/small lymphocytic lymphoma, Thiopurine S-methyltransferase deficiency
RS201695576	Drug Response	drug response	Thiopurine response, Thiopurine response
RS56161402	Drug Response	drug response	Thiopurine S-methyltransferase deficiency, Thiopurine S-methyltransferase deficiency
RS74423290	Drug Response	drug response	Thiopurine S-methyltransferase deficiency, Thiopurine S-methyltransferase deficiency
RS753545734	Drug Response	drug response	Thiopurine response, Thiopurine response
RS759836180	Drug Response	drug response	Thiopurine response, Thiopurine response
RS56019966	Drug Response	Likely benign; drug response	Azathioprine response, TPMT-related disorder, Azathioprine response

TPMT Chromosome 6