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Tpmt Gene Detail
Summary
  • Symbol
    Tpmt
  • Name
    thiopurine methyltransferase
  • Feature Type
    protein coding gene
  • IDs
    MGI:98812
    NCBI Gene: 22017
  • Gene Overview
    MyGene.info: TPMT
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:47021987-47043338 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 24.50 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    201 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 Chr13:47021987-47044737 (-)
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
    11
  • Human Ortholog
    TPMT, thiopurine S-methyltransferase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    TPMTD
  • Links
    NCBI Gene ID: 7172
    neXtProt AC: NX_P51580
    UniProt: P51580

  • Chr Location
    6p22.3; chr6:18128311-18155165 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Tpmt mouse models; 1 with human TPMT associations

Human Disease Mouse Models
      
IDs
View 1 model
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
    9 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22017 NCBI Gene Model | MGI Sequence Detail 21352 C57BL/6J ±  kb
    transcript NM_016785 RefSeq | MGI Sequence Detail 2715 C57BL/6  
    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 39
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 6
      Phenotypes 9
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:245150 Bhavsar AP, et al., Pharmacogenetic variants in TPMT alter cellular responses to cisplatin in inner ear cell lines. PLoS One. 2017;12(4):e0175711

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory