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Pten Gene Detail
Summary
  • Symbol
    Pten
  • Name
    phosphatase and tensin homolog
  • Synonyms
    2310035O07Rik, A130070J02Rik, B430203M17Rik, MMAC1, TEP1
  • Feature Type
    protein coding gene
  • IDs
    MGI:109583
    NCBI Gene: 19211
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr19:32734977-32803560 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 28.14 cM
  • Mapping Data
    12 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1284 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109583
 protein coding gene Chr19:32734897-32803560 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025043
 protein coding gene Chr19:31414034-31488250 (+)
A/J MGP_AJ_G0025020
 protein coding gene Chr19:29849452-29917301 (+)
AKR/J MGP_AKRJ_G0024988
 protein coding gene Chr19:30893051-30962664 (+)
BALB/cJ MGP_BALBcJ_G0025019
 protein coding gene Chr19:29906024-29977207 (+)
C3H/HeJ MGP_C3HHeJ_G0024775
 protein coding gene Chr19:30890775-30961909 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025460
 protein coding gene Chr19:32300582-32375501 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022879
 protein coding gene Chr19:29762175-29830608 (+)
CAST/EiJ MGP_CASTEiJ_G0024246
 protein coding gene Chr19:30796934-30868360 (+)
CBA/J MGP_CBAJ_G0024753
 protein coding gene Chr19:33790058-33868433 (+)
DBA/2J MGP_DBA2J_G0024885
 protein coding gene Chr19:29768957-29837498 (+)
FVB/NJ MGP_FVBNJ_G0024847
 protein coding gene Chr19:29598497-29664332 (+)
LP/J MGP_LPJ_G0024970
 protein coding gene Chr19:31419114-31491656 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024874
 protein coding gene Chr19:33662819-33742669 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025515
 protein coding gene Chr19:30957224-31030255 (+)
PWK/PhJ MGP_PWKPhJ_G0023994
 protein coding gene Chr19:29474085-29543445 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023798
 protein coding gene Chr19:30272426-30342248 (+)
WSB/EiJ MGP_WSBEiJ_G0024312
 protein coding gene Chr19:30981845-31051445 (+)



Homology
more
  • Human Ortholog
    PTEN, phosphatase and tensin homolog
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PTEN, phosphatase and tensin homolog
  • Synonyms
    10q23del, BZS, CWS1, DEC, GLM2, MHAM, MMAC1, PTEN1, PTENbeta, PTENgama, TEP1
  • Links
    NCBI Gene ID: 5728
    neXtProt AC: NX_P60484
    UniProt: P60484

  • Chr Location
    10q23.31; chr10:87862638-87971930 (+)  GRCh38
Human Diseases
more
  • Diseases
    14 with Pten mouse models; 14 with human PTEN associations

Human Disease Mouse Models
      
IDs
 View 3 models
IDs
 View 2 models
IDs
 View 20 models
IDs
 View 3 models
      
IDs
 View 1 model
IDs
 View 3 models
IDs
 View 1 model
IDs
 View 12 models
IDs
 View 3 models
IDs
 View 3 models
IDs
 View 3 models
IDs
 View 1 model
IDs
 View 1 model
IDs
 View 2 models
      
IDs
 View 5 models
IDs
IDs
IDs
IDs
 View 5 models
IDs
IDs
 View 8 models
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    13 with disease annotations
  • References
    79 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    559 phenotypes from 21 alleles in 80 genetic backgrounds
    301 phenotypes from multigenic genotypes
    27 images
    1499 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 null mutants die by E9.5 with abnormally patterned enlarged brains and defective placentas. Heterozygotes develop a range of neoplasms. Conditional mutants demonstrate effects on basic processes of proliferation, differentiation and apoptosis. KO of the alpha isoform affects mitophagy and causes olfactory, spatial learning and contextual fear memory deficits and increases susceptibility to induced cardiac injury.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    214
  • GO References
    46
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
    1244
  • Tissues
    268
  • cDNA Data
    32
  • Literature Summary
    107
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19211 NCBI Gene Model | MGI Sequence Detail 68584 C57BL/6J ±  kb
    transcript NM_008960 RefSeq | MGI Sequence Detail 8229 C57BL/6  
    polypeptide O08586 UniProt | EBI | MGI Sequence Detail 403 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      cDNA 33
      Primer pair 10
      Other 3

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGD-MRK-39582, MGI:1917411, MGI:2147557, MGI:2443558
    References
    more
    • Summaries
      All 1854
      Developmental Gene Expression 107
      Diseases 79
      Gene Ontology 46
      Phenotypes 1499
    • Earliest
      J:39352 Steck PA, et al., Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet. 1997 Apr;15(4):356-62
    • Latest
      J:358944 Yonan JM, et al., PTEN deletion in the adult dentate gyrus induces epilepsy. Neurobiol Dis. 2024 Nov 14;203:106736
    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)
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    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