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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
  • Gene Overview
    MyGene.info: PTEN
  • Alliance
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
  • Genetic Map
    Chromosome 19, 28.14 cM
  • Mapping Data
    11 experiments
Homology
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  • Human Ortholog
    PTEN, phosphatase and tensin homolog
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PTEN, phosphatase and tensin homolog
    Orthology source: HomoloGene, HGNC
  • Synonyms
    10q23del, BZS, CWS1, DEC, GLM2, MHAM, MMAC1, PTEN1, PTENbeta, TEP1
  • Links
    NCBI Gene ID: 5728
    neXtProt AC: NX_P60484
    UniProt: P60484

  • Chr Location
    10q23.31; chr10:87863438-87971930 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    14 with Pten mouse models; 10 with human PTEN associations

Human Disease Mouse Models
      
IDs
View 3 models
IDs
View 12 models
IDs
View 3 models
IDs
View 3 models
IDs
View 2 models
IDs
View 16 models
      
IDs
View 1 model
IDs
View 3 models
IDs
View 1 model
IDs
View 2 models
IDs
View 3 models
IDs
View 1 model
IDs
View 1 model
IDs
View 3 models
      
IDs
IDs
View 1 model
IDs
View 5 models
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    13 with disease annotations
  • References
    74 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    526 phenotypes from 20 alleles in 78 genetic backgrounds
    278 phenotypes from multigenic genotypes
    27 images
    823 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.
Gene Ontology
(GO)
Classifications
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  • 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
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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
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    393 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    7 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
    IPR035892 C2 domain superfamily
    IPR000340 Dual specificity phosphatase, catalytic domain
    IPR016130 Protein-tyrosine phosphatase, active site
    IPR003595 Protein-tyrosine phosphatase, catalytic
    IPR029021 Protein-tyrosine phosphatase-like
    IPR014020 Tensin phosphatase, C2 domain
    IPR029023 Tensin-type phosphatase domain
Molecular
Reagents
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  • All nucleic 37
    cDNA 32
    Primer pair 4
    Other 1

    Microarray probesets 10
Other
Accession IDs
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MGD-MRK-39582, MGI:1917411, MGI:2147557, MGI:2443558
References
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  • Summaries
    All 1067
    Developmental Gene Expression 73
    Diseases 74
    Gene Ontology 40
    Phenotypes 823
  • 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:248325 Figlia G, et al., Dual function of the PI3K-Akt-mTORC1 axis in myelination of the peripheral nervous system. Elife. 2017 Sep 07;6(None):None

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory