About   Help   FAQ
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
  • Gene Overview
    MyGene.info: PTEN
Location & Maps
more
  • Sequence Map
    Chr19:32757497-32826160 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      68664 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PTEN, phosphatase and tensin homolog
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PTEN, phosphatase and tensin homolog
    Orthology source: HGNC, HomoloGene
  • Synonyms
    10q23del, BZS, CWS1, DEC, GLM2, MHAM, MMAC1, PTEN1, TEP1
  • Links
    NCBI Gene ID: 5728
    neXtProt AC: NX_P60484

  • Chr Location
    10q23.3; chr10:87863438-87971930 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    12 with Pten mouse models; 12 with human PTEN associations

Human Disease Mouse Models
       Bannayan-Riley-Ruvalcaba Syndrome; BRRS   OMIM: 153480 View 3 models
Cowden Syndrome 1; CWS1   OMIM: 158350 View 11 models
Endometrial Cancer   OMIM: 608089 View 3 models
Macrocephaly/Autism Syndrome   OMIM: 605309 View 2 models
Phosphatase and Tensin Homolog; PTEN   OMIM: 601728 View 1 model
Prostate Cancer   OMIM: 176807 View 14 models
       Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins;   OMIM: 265380 View 1 model
Autism   OMIM: 209850 View 2 models
Bladder Cancer   OMIM: 109800 View 2 models
Fatty Liver Disease, Nonalcoholic, Susceptibility to, 1; NAFLD1   OMIM: 613282 View 2 models
Hepatocellular Carcinoma   OMIM: 114550 View 3 models
Leukemia, Acute Lymphoblastic; ALL   OMIM: 613065 View 1 model
       Glioma Susceptibility 2; GLM2   OMIM: 613028 View 3 models
Melanoma, Cutaneous Malignant, Susceptibility to, 1; CMM1   OMIM: 155600 View 2 models
Meningioma, Familial, Susceptibility to   OMIM: 607174
Squamous Cell Carcinoma, Head and Neck; HNSCC   OMIM: 275355 View 1 model
Thyroid Cancer, Nonmedullary, 2; NMTC2   OMIM: 188470
Vacterl Association with Hydrocephalus   OMIM: 276950
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    12 with disease annotations
  • References
    68 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    486 phenotypes from 17 alleles in 68 genetic backgrounds
    243 phenotypes from multigenic genotypes
    14 images
    686 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    75
  • Chemically induced (ENU)
    1
  • Gene trapped
    48
  • Targeted
    24
  • Transgenic
    2
  • Incidental Mutations
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.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021203 VEGA Gene Model | MGI Sequence Detail 68664 C57BL/6J ±  kb
transcript OTTMUST00000050229 VEGA | MGI Sequence Detail 8292 Not Applicable  
polypeptide OTTMUSP00000023423 VEGA | MGI Sequence Detail 403 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    393 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000028746 phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
  • EC
  • InterPro Domains
    IPR017361 Bifunctional phosphatidylinositol trisphosphate phosphatase/dual specificity phosphatase PTEN
    IPR000008 C2 domain
    IPR000340 Dual specificity phosphatase, catalytic domain
    IPR016130 Protein-tyrosine phosphatase, active site
    IPR029021 Protein-tyrosine phosphatase-like
    IPR014020 Tensin phosphatase, C2 domain
    IPR029023 Tensin phosphatase, lipid phosphatase domain
Molecular
Reagents
less
  • All nucleic 37
    cDNA 32
    Primer pair 4
    Other 1

    Microarray probesets 10
Other
Accession IDs
less
MGD-MRK-39582, MGI:1917411, MGI:2147557, MGI:2443558
References
more
  • Summaries
    All 859
    Developmental Gene Expression 65
    Diseases 68
    Gene Ontology 38
    Phenotypes 686
  • 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:229532 Santanam U, et al., Atg7 cooperates with Pten loss to drive prostate cancer tumor growth. Genes Dev. 2016 Feb 15;30(4):399-407

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/26/2016
MGI 6.03
The Jackson Laboratory