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PTEN phosphatase and tensin homolog [ Homo sapiens (human) ]

Gene ID: 5728, updated on 15-Sep-2014
Official Symbol
PTENprovided by HGNC
Official Full Name
phosphatase and tensin homologprovided by HGNC
Primary source
HGNC:HGNC:9588
See related
HPRD:03431; MIM:601728
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BZS; DEC; CWS1; GLM2; MHAM; TEP1; MMAC1; PTEN1; 10q23del
Summary
This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. [provided by RefSeq, Jul 2008]
See PTEN in Epigenomics, MapViewer
Location:
10q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (87863438..87970345)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (89623195..89728532)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATPase family, AAA domain containing 1 Neighboring gene cofilin 1 (non-muscle) pseudogene 1 Neighboring gene killin, p53-regulated DNA replication inhibitor Neighboring gene ribosomal protein L11 pseudogene 3 Neighboring gene mediator complex subunit 6 pseudogene 1 Neighboring gene vomeronasal 1 receptor 55 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in PTEN that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Bannayan-Riley-Ruvalcaba syndrome Compare labs
Cowden syndrome Compare labs
Cutaneous malignant melanoma 1
MedGen: C1835047 OMIM: 155600 GeneReviews: Not available
Compare labs
Endometrial carcinoma
MedGen: C0476089 OMIM: 608089 GeneReviews: Not available
Compare labs
Glioma susceptibility 2
MedGen: C2751642 OMIM: 613028 GeneReviews: Not available
Compare labs
Macrocephaly/autism syndrome
MedGen: C1854416 OMIM: 605309 GeneReviews: Not available
Compare labs
Malignant tumor of prostate
MedGen: C0376358 OMIM: 176807 GeneReviews: Not available
Compare labs
Meningioma, familial
MedGen: C1333989 OMIM: 607174 GeneReviews: Not available
Compare labs
PTEN hamartoma tumor syndrome Compare labs
Squamous cell carcinoma of the head and neck
MedGen: C1168401 OMIM: 275355 GeneReviews: Not available
Compare labs
Thyroid cancer, follicular
MedGen: C0206682 OMIM: 188470 GeneReviews: Not available
Compare labs
Vacterl association with hydrocephalus
MedGen: C1848599 OMIM: 276950 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2011-10-28)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2011-10-28)

ISCA Genome Curation Page

NHGRI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of phosphatase and tensin homolog (PTEN) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Silencing PTEN gene by siRNA prevents HIV-1 gp120-mediated neurotoxic effects PubMed
Tat tat HIV-1 Tat induces phosphorylation of PI3K, AKT, PTEN, and GSK-3beta activating PI3K and AKT and inactivating PTEN and GSK-3beta in vIL-6 expressing cells PubMed
tat Pro-survival effects of intracellular HIV-1 Tat in a microglial cell line is attributed to activation of the PI-3-kinase (PI3K)/Akt pathway via decreasing expression of PTEN, a negative regulator of the PI-3-K pathway PubMed
tat HIV-1 Tat upregulates PTEN expression in Tat-infected Jurkat T cells PubMed
tat Inhibiting phosphatidylinositol 3-kinase by overexpressing PTEN phosphatase enhances HIV-1 Tat transactivation of the viral LTR promoter PubMed
matrix gag HIV-1 p17 and its C-terminal truncated form of p17 (p17delta36) differentially regulate Akt phosphorylation by reducing and increasing phosphorylation levels of PTEN, respectively PubMed
gag HIV-1 p17-induced activation of PTEN is mediated by RhoA-associated kinase (ROCK) PubMed

Go to the HIV-1, Human Interaction Database

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  • superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, organism-specific biosystem (from BIOCYC)
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, organism-specific biosystem
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
  • superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, conserved biosystem (from BIOCYC)
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, conserved biosystem|FRAME: INOSITOL-1-4-5-TRISPHOSPHATE| is a secondary messenger molecule used in signal transduction and lipid signaling in eukaryotic cells. It mediates the biological response of a large number of h...
  • superpathway of inositol phosphate compounds, organism-specific biosystem (from BIOCYC)
    superpathway of inositol phosphate compounds, organism-specific biosystem
    superpathway of inositol phosphate compounds
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC11227

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
anaphase-promoting complex binding IPI
Inferred from Physical Interaction
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity TAS
Traceable Author Statement
more info
 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-3-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphoprotein phosphatase activity IDA
Inferred from Direct Assay
more info
 
platelet-derived growth factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
protein serine/threonine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine/serine/threonine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
T cell receptor signaling pathway TAS
Traceable Author Statement
more info
 
activation of mitotic anaphase-promoting complex activity IDA
Inferred from Direct Assay
more info
 
aging IEA
Inferred from Electronic Annotation
more info
 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
brain morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
 
cardiac muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
central nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
central nervous system myelin maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
central nervous system neuron axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
dentate gyrus development ISS
Inferred from Sequence or Structural Similarity
more info
 
endothelial cell migration IEA
Inferred from Electronic Annotation
more info
 
epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
forebrain morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
inositol phosphate dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
inositol phosphate metabolic process TAS
Traceable Author Statement
more info
 
learning or memory ISS
Inferred from Sequence or Structural Similarity
more info
 
locomotor rhythm ISS
Inferred from Sequence or Structural Similarity
more info
 
locomotory behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
long term synaptic depression IEA
Inferred from Electronic Annotation
more info
 
long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
 
male mating behavior IEA
Inferred from Electronic Annotation
more info
 
maternal behavior IEA
Inferred from Electronic Annotation
more info
 
memory IEA
Inferred from Electronic Annotation
more info
 
multicellular organismal response to stress ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell aging IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell size ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
 
negative regulation of dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of excitatory postsynaptic membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of myelination IEA
Inferred from Electronic Annotation
more info
 
negative regulation of organ growth ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of phagocytosis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of phosphatidylinositol 3-kinase signaling TAS
Traceable Author Statement
more info
PubMed 
negative regulation of protein kinase B signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
 
negative regulation of ribosome biogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of synaptic vesicle clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron-neuron synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
neurotrophin TRK receptor signaling pathway TAS
Traceable Author Statement
more info
 
peptidyl-tyrosine dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol dephosphorylation IMP
Inferred from Mutant Phenotype
more info
 
phosphatidylinositol-mediated signaling TAS
Traceable Author Statement
more info
 
phospholipid metabolic process TAS
Traceable Author Statement
more info
 
platelet-derived growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of excitatory postsynaptic membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 
positive regulation of sequence-specific DNA binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
 
postsynaptic density assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
prepulse inhibition ISS
Inferred from Sequence or Structural Similarity
more info
 
presynaptic membrane assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
prostate gland growth IEA
Inferred from Electronic Annotation
more info
 
protein dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein dephosphorylation TAS
Traceable Author Statement
more info
PubMed 
protein kinase B signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
protein stabilization IDA
Inferred from Direct Assay
more info
 
regulation of B cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of cellular component size ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cyclin-dependent protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
PubMed 
regulation of myeloid cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to ATP IEA
Inferred from Electronic Annotation
more info
 
response to arsenic-containing substance IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
response to zinc ion IEA
Inferred from Electronic Annotation
more info
 
rhythmic synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
social behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
synapse maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
PML body IEA
Inferred from Electronic Annotation
more info
 
Schmidt-Lanterman incisure ISS
Inferred from Sequence or Structural Similarity
more info
 
cell projection IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
myelin sheath adaxonal region ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
Names
phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
mitochondrial PTENalpha
phosphatase and tensin-like protein
mutated in multiple advanced cancers 1
mitochondrial phosphatase and tensin protein alpha
MMAC1 phosphatase and tensin homolog deleted on chromosome 10
phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
NP_000305.3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007466.2 

    Range
    5001..110337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_311

mRNA and Protein(s)

  1. NM_000314.4NP_000305.3  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN

    See proteins identical to NP_000305.3

    Status: REVIEWED

    Source sequence(s)
    AC063965, AK024986, BG772190, U92436
    Consensus CDS
    CCDS31238.1
    UniProtKB/TrEMBL
    F6KD01
    UniProtKB/Swiss-Prot
    P60484
    Conserved Domains (2) summary
    smart00404
    Location:92183
    PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    pfam10409
    Location:188349
    PTEN_C2; C2 domain of PTEN tumor-suppressor protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    87863438..87970345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717927.1XP_006717990.1  

    See proteins identical to XP_006717990.1

    Conserved Domains (1) summary
    cl00053
    Location:47150
    DSPc; Dual specificity phosphatases (DSP); Ser/Thr and Tyr protein phosphatases. Structurally similar to tyrosine-specific phosphatases but with a shallower active site cleft and a distinctive active site signature motif, HCxxGxxR. Characterized as VHR- or ...
  2. XM_006717926.1XP_006717989.1  

    See proteins identical to XP_006717989.1

    Conserved Domains (2) summary
    smart00404
    Location:77168
    PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
    pfam10409
    Location:173334
    PTEN_C2; C2 domain of PTEN tumor-suppressor protein

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    83258013..83363313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    89905493..90010826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)