About   Help   FAQ
Tpmt Gene Detail
Summary
  • Symbol
    Tpmt
  • Name
    thiopurine methyltransferase
  • Feature Type
    protein coding gene
  • IDs
    MGI:98812
    NCBI Gene: 22017
  • Alliance
    genome feature page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:47175463-47196833 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 24.50 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    765 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98812
 protein coding gene Chr13:47175463-47198213 (-)
129S1/SvImJ ENSMUSG00200035107
 protein coding gene Chr13:44435355-44453145 (-)
A/J ENSMUSG00195027831
 protein coding gene Chr13:43490417-43508207 (-)
AKR/J ENSMUSG00220008851
 protein coding gene Chr13:43296690-43314742 (-)
BALB/cJ ENSMUSG00180007964
 protein coding gene Chr13:43792826-43810616 (-)
C3H/HeJ ENSMUSG00175028142
 protein coding gene Chr13:43756981-43774773 (-)
C57BL/6NJ ENSMUSG00215005453
 protein coding gene Chr13:43921634-43939688 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018486
 protein coding gene Chr13:42277303-42296659 (-)
CAST/EiJ ENSTCUG00005029266
 protein coding gene Chr13:43823040-43840584 (-)
CBA/J ENSMUSG00210026577
 protein coding gene Chr13:43762487-43780279 (-)
DBA/2J ENSMUSG00185031368
 protein coding gene Chr13:44582571-44600360 (-)
FVB/NJ ENSMUSG00205009905
 protein coding gene Chr13:43542630-43560422 (-)
JF1/MsJ ENSUMUG00000010400
 protein coding gene Chr13:44100142-44117895 (-)
LP/J ENSMUSG00230025294
 protein coding gene Chr13:53898449-53916238 (-)
NOD/ShiLtJ ENSMUSG00190010794
 protein coding gene Chr13:43981204-43998993 (-)
NZO/HlLtJ ENSMUSG00225035485
 protein coding gene Chr13:47671758-47689549 (-)
PWK/PhJ ENSLUMG00010020218
 protein coding gene Chr13:42947173-42965225 (-)
SPRET/EiJ ENSMSPG00010028091
 protein coding gene Chr13:43057726-43078284 (-)
WSB/EiJ ENSIUOG00005025277
 protein coding gene Chr13:43134610-43152665 (-)



Homology
more
  • Human Ortholog
    TPMT, thiopurine S-methyltransferase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TPMT, thiopurine S-methyltransferase
  • Synonyms
    TPMTD
  • Links
    NCBI Gene ID: 7172
    UniProt: P51580

  • Chr Location
    6p22.3; chr6:18128311-18155348 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tpmt mouse models; 4 with human TPMT associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous and heterozygous mutation of this gene results in increased sensitivity to mercaptopurine.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    9
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    727
  • Tissues
    100
  • cDNA Data
    34
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22017 NCBI Gene Model | MGI Sequence Detail 21371 C57BL/6J ±  kb
    transcript NM_016785 RefSeq | MGI Sequence Detail 2715 ZRU/MplStud  
    polypeptide O55060 UniProt | EBI | MGI Sequence Detail 240 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      cDNA 36
      Primer pair 2
      Antibodies 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-15208, MGI:2145410
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 9
      Phenotypes 13
    • Earliest
      J:384394 REMY CN, Metabolism of thiopyrimidines and thiopurines. S-Methylation with S-adenosylmethionine transmethylase and catabolism in mammalian tissues. J Biol Chem. 1963 Mar;238:1078-84
    • Latest
      J:383448 Kato H, et al., Developmental expression of azathioprine-metabolizing enzymes in mice liver and its implication for fetal drug toxicity. Biochem Biophys Res Commun. 2026 Apr 17;819:153796
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory