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Tpmt Gene Detail
Summary
  • Symbol
    Tpmt
  • Name
    thiopurine methyltransferase
  • Feature Type
    protein coding gene
  • IDs
    MGI:98812
    NCBI Gene: 22017
  • Alliance
    gene 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
    18
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 MGP_129S1SvImJ_G0020518
 protein coding gene Chr13:45830317-45851919 (-)
A/J MGP_AJ_G0020472
 protein coding gene Chr13:44231347-44250853 (-)
AKR/J MGP_AKRJ_G0020449
 protein coding gene Chr13:45444841-45465752 (-)
BALB/cJ MGP_BALBcJ_G0020468
 protein coding gene Chr13:44437796-44457555 (-)
C3H/HeJ MGP_C3HHeJ_G0020267
 protein coding gene Chr13:45308607-45328782 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020901
 protein coding gene Chr13:47215545-47235730 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018486
 protein coding gene Chr13:42277303-42296659 (-)
CAST/EiJ MGP_CASTEiJ_G0019782
 protein coding gene Chr13:45251727-45270469 (-)
CBA/J MGP_CBAJ_G0020228
 protein coding gene Chr13:49176833-49196074 (-)
DBA/2J MGP_DBA2J_G0020350
 protein coding gene Chr13:43785437-43804854 (-)
FVB/NJ MGP_FVBNJ_G0020329
 protein coding gene Chr13:43303266-43322683 (-)
LP/J MGP_LPJ_G0020425
 protein coding gene Chr13:46052515-46076265 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020358
 protein coding gene Chr13:48997427-49018193 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020944
 protein coding gene Chr13:45146601-45165741 (-)
PWK/PhJ MGP_PWKPhJ_G0019538
 protein coding gene Chr13:43919330-43940183 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019366
 protein coding gene Chr13:43819930-43838849 (-)
WSB/EiJ MGP_WSBEiJ_G0019844
 protein coding gene Chr13:45455504-45476041 (-)



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
    neXtProt AC: NX_P51580
    UniProt: P51580

  • Chr Location
    6p22.3; chr6:18128311-18155169 (-)  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
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
    12 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
    8
  • GO References
    5
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
    804
  • Tissues
    95
  • cDNA Data
    34
  • Literature Summary
    2
  • 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 37
      cDNA 36
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-15208, MGI:2145410
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 5
      Phenotypes 12
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:335002 Pristup J, et al., Molybdenum Cofactor Catabolism Unravels the Physiological Role of the Drug Metabolizing Enzyme Thiopurine S-Methyltransferase. Clin Pharmacol Ther. 2022 Oct;112(4):808-816
    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
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory