Human Gene PTEN (ENST00000371953.8) from GENCODE V44
  Description: Homo sapiens phosphatase and tensin homolog (PTEN), transcript variant 1, mRNA. (from RefSeq NM_000314)
RefSeq Summary (NM_000314): This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by 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. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015].
Gencode Transcript: ENST00000371953.8
Gencode Gene: ENSG00000171862.15
Transcript (Including UTRs)
   Position: hg38 chr10:87,863,625-87,971,930 Size: 108,306 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr10:87,864,470-87,965,472 Size: 101,003 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:87,863,625-87,971,930)mRNA (may differ from genome)Protein (403 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PTEN_HUMAN
DESCRIPTION: RecName: Full=Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN; EC=3.1.3.16; EC=3.1.3.48; EC=3.1.3.67; AltName: Full=Mutated in multiple advanced cancers 1; AltName: Full=Phosphatase and tensin homolog;
FUNCTION: Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine- phosphorylated proteins. Also acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3- phosphate and inositol 1,3,4,5-tetrakisphosphate with order of substrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4. The lipid phosphatase activity is critical for its tumor suppressor function. Antagonizes the PI3K- AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival. The unphosphorylated form cooperates with AIP1 to suppress AKT1 activation. Dephosphorylates tyrosine-phosphorylated focal adhesion kinase and inhibits cell migration and integrin-mediated cell spreading and focal adhesion formation. Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. May be a negative regulator of insulin signaling and glucose metabolism in adipose tissue. The nuclear monoubiquitinated form possesses greater apoptotic potential, whereas the cytoplasmic nonubiquitinated form induces less tumor suppressive ability.
CATALYTIC ACTIVITY: Phosphatidylinositol 3,4,5-trisphosphate + H(2)O = phosphatidylinositol 4,5-bisphosphate + phosphate.
CATALYTIC ACTIVITY: A phosphoprotein + H(2)O = a protein + phosphate.
CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
COFACTOR: Magnesium.
SUBUNIT: Monomer. The unphosphorylated form interacts with the second PDZ domain of AIP1 and with DLG1 and MAST2 in vitro. Interacts with MAGI2, MAGI3, MAST1 and MAST3, but neither with MAST4 nor with DLG5. Interaction with MAGI2 increases protein stability. Interacts with NEDD4. Interacts with NDFIP1 and NDFIP2; in the presence of NEDD4 or ITCH, this interaction promotes PTEN ubiquitination. Interacts (via C2 domain) with FRK. Interacts with USP7; the interaction is direct. Interacts with ROCK1 (By similarity). Interacts with XIAP/BIRC4.
INTERACTION: P30260:CDC27; NbExp=7; IntAct=EBI-696162, EBI-994813; Q62696:Dlg1 (xeno); NbExp=2; IntAct=EBI-696162, EBI-389325; P42685:FRK; NbExp=7; IntAct=EBI-696162, EBI-1383583; O88382:Magi2 (xeno); NbExp=3; IntAct=EBI-696162, EBI-696179; Q9JK71:Magi3 (xeno); NbExp=3; IntAct=EBI-696162, EBI-696226; Q9R1L5:Mast1 (xeno); NbExp=3; IntAct=EBI-696162, EBI-491771; Q60592:Mast2 (xeno); NbExp=4; IntAct=EBI-696162, EBI-493888; O60307:MAST3; NbExp=3; IntAct=EBI-696162, EBI-311420; P46934:NEDD4; NbExp=4; IntAct=EBI-696162, EBI-726944; P62136:PPP1CA; NbExp=2; IntAct=EBI-696162, EBI-357253;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Nucleus, PML body. Note=Monoubiquitinated form is nuclear. Nonubiquitinated form is cytoplasmic. Colocalized with PML and USP7 in PML nuclear bodies. XIAP/BIRC4 promotes its nuclear localization.
TISSUE SPECIFICITY: Expressed at a relatively high level in all adult tissues, including heart, brain, placenta, lung, liver, muscle, kidney and pancreas.
INDUCTION: Down-regulated by TGFB1.
DOMAIN: The C2 domain binds phospholipid membranes in vitro in a Ca(2+)-independent manner; this binding is important for its tumor suppressor function.
PTM: Phosphorylated in vitro by MAST1, MAST2 and MAST3. Phosphorylation results in an inhibited activity towards PIP3. Phosphorylation can both inhibit or promote PDZ-binding. Phosphorylation at Tyr-336 by FRK/PTK5 protects this protein from ubiquitin-mediated degradation probably by inhibiting its binding to NEDD4. Phosphorylation by ROCK1 is essential for its stability and activity. Phosphorylation by PLK3 promotes its stability and prevents its degradation by the proteasome.
PTM: Monoubiquitinated; monoubiquitination is increased in presence of retinoic acid. Deubiquitinated by USP7; leading to its nuclear exclusion. Monoubiquitination of one of either Lys-13 and Lys-289 amino acid is sufficient to modulate PTEN compartmentalization. Ubiquitinated by XIAP/BIRC4.
DISEASE: Defects in PTEN are a cause of Cowden disease (CD) [MIM:158350]; also known as Cowden syndrome (CS). CD is an autosomal dominant cancer predisposition syndrome associated with elevated risk for tumors of the breast, thyroid and skin. The predominant phenotype for CD is multiple hamartoma syndrome, in many organ systems including the breast (70% of CD patients), thyroid (40-60%), skin, CNS (40%), gastrointestinal tract. Affected individuals are at an increased risk of both breast and thyroid cancers. Trichilemmomas (benign tumors of the hair follicle infundibulum), and mucocutaneous papillomatosis (99%) are hallmarks of CD.
DISEASE: Defects in PTEN are the cause of Lhermitte-Duclos disease (LDD) [MIM:158350]; also known as cerebelloparenchymal disorder VI. LDD is characterized by dysplastic gangliocytoma of the cerebellum which often results in cerebellar signs and seizures. LDD and CD seem to be the same entity, and are considered as hamartoma-neoplasia syndromes.
DISEASE: Defects in PTEN are a cause of Bannayan-Zonana syndrome (BZS) [MIM:153480]; also known as Ruvalcaba-Myhre-Smith syndrome (RMSS) or Bannayan-Riley-Ruvalcaba syndrome (BRRS). In BZS there seems not to be an increased risk of malignancy. It has a partial clinical overlap with CD. BZS is characterized by the classic triad of macrocephaly, lipomatosis and pigmented macules of the gland penis.
DISEASE: Defects in PTEN are a cause of head and neck squamous cell carcinomas (HNSCC) [MIM:275355]; also known as squamous cell carcinoma of the head and neck.
DISEASE: Defects in PTEN are a cause of susceptibility to endometrial cancer (ENDMC) [MIM:608089].
DISEASE: Note=PTEN mutations are found in a subset of patients with Proteus syndrome, a genetically heterogeneous condition. The molecular diagnosis of PTEN mutation positive cases classifies Proteus syndrome patients as part of the PTEN hamartoma syndrome spectrum. As such, patients surviving the early years of Proteus syndrome are likely at a greater risk of developing malignancies.
DISEASE: Defects in PTEN are a cause of susceptibility to glioma type 2 (GLM2) [MIM:613028]. Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, and ependymomas.
DISEASE: Defects in PTEN are a cause of VACTERL association with hydrocephalus (VACTERL-H) [MIM:276950]. VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.
DISEASE: Defects in PTEN may be a cause of susceptibility to prostate cancer (PC) [MIM:176807]. It is a malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma.
DISEASE: Defects in PTEN are a cause of macrocephaly/autism syndrome (MCEPHAS) [MIM:605309]. Patients have autism spectrum disorders and macrocephaly, with head circumferences ranging from +2.5 to +8 SD for age and sex (average head circumference +4.0 SD).
DISEASE: Note=A microdeletion of chromosome 10q23 involving BMPR1A and PTEN is a cause of chromosome 10q23 deletion syndrome, which shows overlapping features of the following three disorders: Bannayan-Zonana syndrome, Cowden disease and juvenile polyposis syndrome.
SIMILARITY: Contains 1 C2 tensin-type domain.
SIMILARITY: Contains 1 phosphatase tensin-type domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PTENID158.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PTEN";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/pten/";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PTEN
Diseases sorted by gene-association score: bannayan-riley-ruvalcaba syndrome* (1712), macrocephaly/autism syndrome* (1679), cowden syndrome 1* (1580), squamous cell carcinoma, head and neck* (1555), endometrial cancer* (1285), vater association with macrocephaly and ventriculomegaly* (1000), prostate cancer* (952), cowden disease* (900), glioma susceptibility 2* (875), malignant melanoma, somatic* (600), pten hamartoma tumor syndrome* (520), glioblastoma* (480), melanoma* (460), glioblastoma multiforme* (456), proteus-like syndrome* (418), segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome* (350), megakaryocytic leukemia* (283), proteus syndrome, somatic* (266), pasli disease* (247), meningioma, familial* (237), brca1 hereditary breast and ovarian cancer syndrome* (179), brca2 hereditary breast and ovarian cancer syndrome* (163), lung cancer* (117), breast cancer* (98), colorectal cancer* (77), thyroid cancer, nonmedullary, 2* (58), squamous cell carcinoma (44), glioma (41), ruvalcaba syndrome (40), astrocytoma (31), peutz-jeghers syndrome (31), small cell carcinoma (28), lipomatosis (21), gliomatosis cerebri (21), hydromyelia (18), gangliocytoma (18), chromosome 10q22.3-q23.2 deletion syndrome* (18), birt-hogg-dube syndrome (16), malignant glioma (15), brain cancer (15), polyposis, juvenile intestinal (15), oligodendroglioma (15), breast duct papilloma (15), spinal meningioma (14), female reproductive endometrioid cancer (14), chromosome 10q23 deletion syndrome (13), meningioma, radiation-induced (12), endometrial adenocarcinoma (12), li-fraumeni syndrome (11), grade iii astrocytoma (11), tracheoesophageal fistula (11), polyposis, skin pigmentation, alopecia, and fingernail changes (11), acral lentiginous melanoma (10), renal cell carcinoma (10), follicular adenoma (9), keloid formation (9), papilloma (8), gemistocytic astrocytoma (8), thyroid hurthle cell adenoma (8), mucinous stomach adenocarcinoma (8), male reproductive organ cancer (8), congenital heart defects, hamartomas of tongue, and polysyndactyly (8), hemihypertrophy (8), synchronous bilateral breast carcinoma (8), ovarian cancer, somatic (8), prostate adenocarcinoma (8), ovarian clear cell carcinoma (7), arteriovenous malformation (7), lipomatosis, multiple (7), thyroid cancer, nonmedullary, 1 (7), thyroid cancer (7), uterine carcinosarcoma (7), ovarian melanoma (7), hereditary breast ovarian cancer* (7), salivary gland cancer (7), spleen angiosarcoma (7), macroglossia (6), sporadic breast cancer (6), cavernous malformation (6), skin lipoma (6), histiocytic sarcoma (6), reproductive organ cancer (6), chordoma (6), penile cancer (6), melanotic neurilemmoma (6), mismatch repair cancer syndrome (6), megalencephaly (6), chronic monocytic leukemia (6), corneal abscess (6), female reproductive organ cancer (6), anaplastic ependymoma (6), endometrioid ovary carcinoma (6), clivus chordoma (6), chronic leukemia (5), testicular germ cell tumor (5), giant cell glioblastoma (5), mixed type thymoma (5), cerebral cavernous malformations-1 (5), gliosarcoma (5), adult astrocytic tumour (5), adrenal cortical adenocarcinoma (5), ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (5), cell type cancer (5), bladder squamous cell carcinoma (4), heart sarcoma (4), endometriosis (4), chromosome 3q29 microdeletion syndrome (4), kidney cancer (4), basal cell carcinoma (3), spinal cord ependymoma (3), venous malformations, multiple cutaneous and mucosal (3), hepatocellular carcinoma (3), hemangioma (3), autism spectrum disorder (3), hydrocephalus (3), autistic disorder (3), gastrointestinal stromal tumor (2), pilocytic astrocytoma (2), clear cell renal cell carcinoma (2), stomach cancer (2), esophageal cancer (2), adamantinoma of long bones (2), autosomal genetic disease (1), gastrointestinal system cancer (1), prostate cancer susceptibility (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.71 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 700.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -435.10845-0.515 Picture PostScript Text
3' UTR -1454.306458-0.225 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017361 - Bifunc_PIno_P3_Pase/Pase_PTEN
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR000340 - Dual-sp_phosphatase_cat-dom
IPR014019 - Phosphatase_tensin-typ
IPR014020 - Tensin_phosphatase_C2-dom
IPR016130 - Tyr_Pase_AS

Pfam Domains:
PF00782 - Dual specificity phosphatase, catalytic domain
PF10409 - C2 domain of PTEN tumour-suppressor protein

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1D5R - X-ray MuPIT 2KYL - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P60484
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004438 phosphatidylinositol-3-phosphatase activity
GO:0004721 phosphoprotein phosphatase activity
GO:0004722 protein serine/threonine phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005161 platelet-derived growth factor receptor binding
GO:0005515 protein binding
GO:0008138 protein tyrosine/serine/threonine phosphatase activity
GO:0008289 lipid binding
GO:0010997 anaphase-promoting complex binding
GO:0016314 phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity
GO:0016787 hydrolase activity
GO:0019899 enzyme binding
GO:0019901 protein kinase binding
GO:0030165 PDZ domain binding
GO:0035255 ionotropic glutamate receptor binding
GO:0042802 identical protein binding
GO:0051717 inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity
GO:0051800 phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity
GO:1990381 ubiquitin-specific protease binding
GO:1990782 protein tyrosine kinase binding

Biological Process:
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0001525 angiogenesis
GO:0001933 negative regulation of protein phosphorylation
GO:0002902 regulation of B cell apoptotic process
GO:0006470 protein dephosphorylation
GO:0006629 lipid metabolic process
GO:0006661 phosphatidylinositol biosynthetic process
GO:0006915 apoptotic process
GO:0007270 neuron-neuron synaptic transmission
GO:0007399 nervous system development
GO:0007416 synapse assembly
GO:0007417 central nervous system development
GO:0007507 heart development
GO:0007568 aging
GO:0007584 response to nutrient
GO:0007611 learning or memory
GO:0007613 memory
GO:0007626 locomotory behavior
GO:0008283 cell proliferation
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0009749 response to glucose
GO:0010033 response to organic substance
GO:0010035 response to inorganic substance
GO:0010043 response to zinc ion
GO:0010628 positive regulation of gene expression
GO:0010666 positive regulation of cardiac muscle cell apoptotic process
GO:0010719 negative regulation of epithelial to mesenchymal transition
GO:0010975 regulation of neuron projection development
GO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling
GO:0014070 response to organic cyclic compound
GO:0014823 response to activity
GO:0016311 dephosphorylation
GO:0016477 cell migration
GO:0016579 protein deubiquitination
GO:0021542 dentate gyrus development
GO:0021955 central nervous system neuron axonogenesis
GO:0030336 negative regulation of cell migration
GO:0030534 adult behavior
GO:0031175 neuron projection development
GO:0031642 negative regulation of myelination
GO:0031647 regulation of protein stability
GO:0031658 negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle
GO:0032228 regulation of synaptic transmission, GABAergic
GO:0032286 central nervous system myelin maintenance
GO:0032355 response to estradiol
GO:0032535 regulation of cellular component size
GO:0032869 cellular response to insulin stimulus
GO:0033032 regulation of myeloid cell apoptotic process
GO:0033198 response to ATP
GO:0033555 multicellular organismal response to stress
GO:0035176 social behavior
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0036294 cellular response to decreased oxygen levels
GO:0042493 response to drug
GO:0042711 maternal behavior
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043491 protein kinase B signaling
GO:0043542 endothelial cell migration
GO:0043647 inositol phosphate metabolic process
GO:0044320 cellular response to leptin stimulus
GO:0045471 response to ethanol
GO:0045475 locomotor rhythm
GO:0045666 positive regulation of neuron differentiation
GO:0045792 negative regulation of cell size
GO:0046621 negative regulation of organ growth
GO:0046685 response to arsenic-containing substance
GO:0046855 inositol phosphate dephosphorylation
GO:0046856 phosphatidylinositol dephosphorylation
GO:0048008 platelet-derived growth factor receptor signaling pathway
GO:0048679 regulation of axon regeneration
GO:0048681 negative regulation of axon regeneration
GO:0048738 cardiac muscle tissue development
GO:0048853 forebrain morphogenesis
GO:0048854 brain morphogenesis
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050765 negative regulation of phagocytosis
GO:0050771 negative regulation of axonogenesis
GO:0050821 protein stabilization
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0051548 negative regulation of keratinocyte migration
GO:0051726 regulation of cell cycle
GO:0051895 negative regulation of focal adhesion assembly
GO:0051898 negative regulation of protein kinase B signaling
GO:0060024 rhythmic synaptic transmission
GO:0060044 negative regulation of cardiac muscle cell proliferation
GO:0060070 canonical Wnt signaling pathway
GO:0060074 synapse maturation
GO:0060134 prepulse inhibition
GO:0060179 male mating behavior
GO:0060291 long-term synaptic potentiation
GO:0060292 long term synaptic depression
GO:0060341 regulation of cellular localization
GO:0060736 prostate gland growth
GO:0060997 dendritic spine morphogenesis
GO:0061002 negative regulation of dendritic spine morphogenesis
GO:0070373 negative regulation of ERK1 and ERK2 cascade
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0071257 cellular response to electrical stimulus
GO:0071361 cellular response to ethanol
GO:0071456 cellular response to hypoxia
GO:0090071 negative regulation of ribosome biogenesis
GO:0090344 negative regulation of cell aging
GO:0090394 negative regulation of excitatory postsynaptic potential
GO:0097105 presynaptic membrane assembly
GO:0097107 postsynaptic density assembly
GO:1901017 negative regulation of potassium ion transmembrane transporter activity
GO:1903690 negative regulation of wound healing, spreading of epidermal cells
GO:1903984 positive regulation of TRAIL-activated apoptotic signaling pathway
GO:1904668 positive regulation of ubiquitin protein ligase activity
GO:1904706 negative regulation of vascular smooth muscle cell proliferation
GO:1990090 cellular response to nerve growth factor stimulus
GO:1990314 cellular response to insulin-like growth factor stimulus
GO:2000060 positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:2000134 negative regulation of G1/S transition of mitotic cell cycle
GO:2000272 negative regulation of receptor activity
GO:2000463 positive regulation of excitatory postsynaptic potential
GO:2000808 negative regulation of synaptic vesicle clustering
GO:2001235 positive regulation of apoptotic signaling pathway

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0009898 cytoplasmic side of plasma membrane
GO:0016324 apical plasma membrane
GO:0016605 PML body
GO:0035749 myelin sheath adaxonal region
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0043197 dendritic spine
GO:0043220 Schmidt-Lanterman incisure
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  U92436 - Human mutated in multiple advanced cancers protein (MMAC1) mRNA, complete cds.
HV952943 - JP 2012517827-A/1: IDENTIFICATION OF EXTRACELLULAR FORM OF PTEN THAT CAN BE USED TO TREAT TUMORS.
HV952945 - JP 2012517827-A/3: IDENTIFICATION OF EXTRACELLULAR FORM OF PTEN THAT CAN BE USED TO TREAT TUMORS.
HZ456959 - JP 2015231372-A/1: IDENTIFICATION OF EXTRACELLULAR FORM OF PTEN THAT CAN BE USED TO TREAT TUMORS.
HZ456961 - JP 2015231372-A/3: IDENTIFICATION OF EXTRACELLULAR FORM OF PTEN THAT CAN BE USED TO TREAT TUMORS.
JA719336 - Sequence 2 from Patent EP2400973.
JA719340 - Sequence 6 from Patent EP2400973.
BC005821 - Homo sapiens phosphatase and tensin homolog, mRNA (cDNA clone MGC:11227 IMAGE:3937787), complete cds.
U96180 - Human protein tyrosine phosphatase (TEP1) mRNA, complete cds.
KX398936 - Homo sapiens PTENbeta (PTEN) mRNA, complete cds.
AK313581 - Homo sapiens cDNA, FLJ94145, Homo sapiens phosphatase and tensin homolog (mutated in multipleadvanced cancers 1) (PTEN), mRNA.
JF268690 - Homo sapiens PTEN splice variant (PTEN) mRNA, complete cds, alternatively spliced.
DQ892604 - Synthetic construct clone IMAGE:100005234; FLH188255.01X; RZPDo839A0573D phosphatase and tensin homolog (mutated in multiple advanced cancers 1) (PTEN) gene, encodes complete protein.
DQ895562 - Synthetic construct Homo sapiens clone IMAGE:100010022; FLH263597.01L; RZPDo839A0463D phosphatase and tensin homolog (mutated in multiple advanced cancers 1) (PTEN) gene, encodes complete protein.
EU176713 - Synthetic construct Homo sapiens clone IMAGE:100011574; FLH263598.01L; RZPDo839A07255D phosphatase and tensin homolog (mutated in multiple advanced cancers 1) (PTEN) gene, encodes complete protein.
AB528513 - Synthetic construct DNA, clone: pF1KB6580, Homo sapiens PTEN gene for phosphatase and tensin homolog, without stop codon, in Flexi system.
CR450306 - Homo sapiens full open reading frame cDNA clone RZPDo834E031D for gene PTEN, phosphatase and tensin homolog (mutated in multiple advanced cancers 1); complete cds; without stopcodon.
KJ534922 - Homo sapiens clone PTEN_iso-A_adult-A14 phosphatase and tensin-like protein isoform A (PTEN) mRNA, partial cds, alternatively spliced.
U93051 - Human putative protein tyrosine phosphatase (PTEN) mRNA, complete cds.
MK783286 - Homo sapiens PTENepsilon mRNA, complete cds.
JD406573 - Sequence 387597 from Patent EP1572962.
JD460659 - Sequence 441683 from Patent EP1572962.
JD109566 - Sequence 90590 from Patent EP1572962.
JD290310 - Sequence 271334 from Patent EP1572962.
JD310848 - Sequence 291872 from Patent EP1572962.
JD463530 - Sequence 444554 from Patent EP1572962.
JD407338 - Sequence 388362 from Patent EP1572962.
JD187406 - Sequence 168430 from Patent EP1572962.
JD215916 - Sequence 196940 from Patent EP1572962.
JD151830 - Sequence 132854 from Patent EP1572962.
JD407056 - Sequence 388080 from Patent EP1572962.
JD468198 - Sequence 449222 from Patent EP1572962.
JD331377 - Sequence 312401 from Patent EP1572962.
JD234790 - Sequence 215814 from Patent EP1572962.
JD418444 - Sequence 399468 from Patent EP1572962.
JD500584 - Sequence 481608 from Patent EP1572962.
JD357356 - Sequence 338380 from Patent EP1572962.
JD553525 - Sequence 534549 from Patent EP1572962.
JD356765 - Sequence 337789 from Patent EP1572962.
JD409452 - Sequence 390476 from Patent EP1572962.
JD382478 - Sequence 363502 from Patent EP1572962.
JD177562 - Sequence 158586 from Patent EP1572962.
JD435999 - Sequence 417023 from Patent EP1572962.
JD260853 - Sequence 241877 from Patent EP1572962.
JD157050 - Sequence 138074 from Patent EP1572962.
JD017389 - Sequence 5 from Patent WO2014164480.
FW573299 - JP 2010529847-A/20: Oligonucleotides for modulation of target RNA activity.
JD263091 - Sequence 244115 from Patent EP1572962.
JD262580 - Sequence 243604 from Patent EP1572962.
JD551212 - Sequence 532236 from Patent EP1572962.
JD046160 - Sequence 27184 from Patent EP1572962.
LX153103 - JP 2017511694-A/95: COMPOSITIONS AND METHODS OF USING MICRORNA INHIBITORS.
JD566648 - Sequence 547672 from Patent EP1572962.
HW816958 - WO 2015020122-A/15: agent for diagnosing or treating urothelial cancer.
FW573296 - JP 2010529847-A/17: Oligonucleotides for modulation of target RNA activity.
JD313296 - Sequence 294320 from Patent EP1572962.
FW573331 - JP 2010529847-A/52: Oligonucleotides for modulation of target RNA activity.
HV347545 - JP 2011513238-A/72: MICRO-RNAS THAT MODULATE SMOOTH MUSCLE PROLIFERATION AND DIFFERENTIATION AND USES THEREOF.
JD042333 - Sequence 23357 from Patent EP1572962.
JD137937 - Sequence 118961 from Patent EP1572962.
JD251523 - Sequence 232547 from Patent EP1572962.
FW573330 - JP 2010529847-A/51: Oligonucleotides for modulation of target RNA activity.
LP897581 - Sequence 4 from Patent EP3218517.
LZ996509 - JP 2017534281-A/4: MiR-214 as a diagnostic and prognostic biomarker specific for ulcerative colitis and a miR-214 inhibitor for treatment of same.
JD287076 - Sequence 268100 from Patent EP1572962.
JD046626 - Sequence 27650 from Patent EP1572962.
LX153096 - JP 2017511694-A/88: COMPOSITIONS AND METHODS OF USING MICRORNA INHIBITORS.
AK024986 - Homo sapiens cDNA: FLJ21333 fis, clone COL02535.
JD110601 - Sequence 91625 from Patent EP1572962.
JD168457 - Sequence 149481 from Patent EP1572962.
LF351830 - JP 2014500723-A/159333: Polycomb-Associated Non-Coding RNAs.
MA587407 - JP 2018138019-A/159333: Polycomb-Associated Non-Coding RNAs.
JD139310 - Sequence 120334 from Patent EP1572962.
FW573298 - JP 2010529847-A/19: Oligonucleotides for modulation of target RNA activity.
JD323808 - Sequence 304832 from Patent EP1572962.
JD172826 - Sequence 153850 from Patent EP1572962.
JD315446 - Sequence 296470 from Patent EP1572962.
FW573295 - JP 2010529847-A/16: Oligonucleotides for modulation of target RNA activity.
JD051152 - Sequence 32176 from Patent EP1572962.
JD093543 - Sequence 74567 from Patent EP1572962.
HW816959 - WO 2015020122-A/16: agent for diagnosing or treating urothelial cancer.
JD263631 - Sequence 244655 from Patent EP1572962.
JD238680 - Sequence 219704 from Patent EP1572962.
FW573297 - JP 2010529847-A/18: Oligonucleotides for modulation of target RNA activity.
JD082407 - Sequence 63431 from Patent EP1572962.
JD473515 - Sequence 454539 from Patent EP1572962.
JD041923 - Sequence 22947 from Patent EP1572962.
JD153519 - Sequence 134543 from Patent EP1572962.
HV347550 - JP 2011513238-A/77: MICRO-RNAS THAT MODULATE SMOOTH MUSCLE PROLIFERATION AND DIFFERENTIATION AND USES THEREOF.
JD224236 - Sequence 205260 from Patent EP1572962.
FW573332 - JP 2010529847-A/53: Oligonucleotides for modulation of target RNA activity.
JD549314 - Sequence 530338 from Patent EP1572962.
LX153097 - JP 2017511694-A/89: COMPOSITIONS AND METHODS OF USING MICRORNA INHIBITORS.
LX153098 - JP 2017511694-A/90: COMPOSITIONS AND METHODS OF USING MICRORNA INHIBITORS.
LX153099 - JP 2017511694-A/91: COMPOSITIONS AND METHODS OF USING MICRORNA INHIBITORS.
LX153100 - JP 2017511694-A/92: COMPOSITIONS AND METHODS OF USING MICRORNA INHIBITORS.
LX153101 - JP 2017511694-A/93: COMPOSITIONS AND METHODS OF USING MICRORNA INHIBITORS.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00562 - Inositol phosphate metabolism
hsa04070 - Phosphatidylinositol signaling system
hsa04115 - p53 signaling pathway
hsa04510 - Focal adhesion
hsa04530 - Tight junction
hsa05200 - Pathways in cancer
hsa05213 - Endometrial cancer
hsa05214 - Glioma
hsa05215 - Prostate cancer
hsa05218 - Melanoma
hsa05222 - Small cell lung cancer

BioCyc Knowledge Library
PWY-6358 - superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
PWY-6364 - D-myo-inositol (1,3,4)-trisphosphate biosynthesis
PWY-6368 - 3-phosphoinositide degradation
PWY-6371 - superpathway of inositol phosphate compounds

BioCarta from NCI Cancer Genome Anatomy Project
h_eif4Pathway - Regulation of eIF4e and p70 S6 Kinase
h_ptenPathway - PTEN dependent cell cycle arrest and apoptosis
h_igf1mtorpathway - Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway
h_metPathway - Signaling of Hepatocyte Growth Factor Receptor
h_ctcfPathway - CTCF: First Multivalent Nuclear Factor
h_mTORPathway - mTOR Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein P60484 (Reactome details) participates in the following event(s):

R-HSA-6807106 PTEN undergoes monoubiquitination
R-HSA-6807134 NEDD4, WWP2, CHIP and XIAP polyubiquitinate PTEN
R-HSA-8847968 PTEN binds FRK
R-HSA-8850945 Casein kinase II phosphorylates PTEN
R-HSA-8850997 TRIM27 binds PTEN
R-HSA-8948775 MKRN1 polyubiquitinates PTEN
R-HSA-8948800 TNKS and TNKS2 PARylate PTEN
R-HSA-6807126 Deubiquitinated PTEN translocates to the cytosol
R-HSA-6807206 USP13 and OTUD3 deubiquitinate PTEN
R-HSA-8873946 OTUD3 deubiquitinates PTEN
R-HSA-6807118 USP7 deubiquitinates monoubiquitinated PTEN
R-HSA-8847977 FRK phosphorylates PTEN
R-HSA-8851011 TRIM27 polyubiquitinates PTEN
R-HSA-8948832 RNF146 polyubiquitinates PARylated PTEN
R-HSA-8850961 PREX2 binds PTEN and inhibits it
R-HSA-199456 PTEN dephosphorylates PIP3
R-HSA-1676149 PI(3,4)P2 is dephosphorylated to PI4P by PTEN at the plasma membrane
R-HSA-1855205 I(1,3,4,5)P4 is dephosphorylated to I(1,4,5)P3 by PTEN in the cytosol
R-HSA-5689950 USP7 deubiquitinates TP53,MDM2,MDM4,FOXO4, PTEN
R-HSA-8948747 Regulation of PTEN localization
R-HSA-8948751 Regulation of PTEN stability and activity
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-5689896 Ovarian tumor domain proteases
R-HSA-8943723 Regulation of PTEN mRNA translation
R-HSA-6807070 PTEN Regulation
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-5688426 Deubiquitination
R-HSA-199418 Negative regulation of the PI3K/AKT network
R-HSA-202424 Downstream TCR signaling
R-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-212436 Generic Transcription Pathway
R-HSA-597592 Post-translational protein modification
R-HSA-202403 TCR signaling
R-HSA-1483255 PI Metabolism
R-HSA-5689880 Ub-specific processing proteases
R-HSA-1483249 Inositol phosphate metabolism
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-392499 Metabolism of proteins
R-HSA-1280218 Adaptive Immune System
R-HSA-1483257 Phospholipid metabolism
R-HSA-1430728 Metabolism
R-HSA-162582 Signal Transduction
R-HSA-74160 Gene expression (Transcription)
R-HSA-168256 Immune System
R-HSA-556833 Metabolism of lipids

-  Other Names for This Gene
  Alternate Gene Symbols: B2R904, ENST00000371953.1, ENST00000371953.2, ENST00000371953.3, ENST00000371953.4, ENST00000371953.5, ENST00000371953.6, ENST00000371953.7, MMAC1, NM_000314, O00633, O02679, P60484, PTEN_HUMAN, Q6ICT7, TEP1, uc001kfb.1, uc001kfb.2, uc001kfb.3, uc001kfb.4, uc001kfb.5
UCSC ID: ENST00000371953.8
RefSeq Accession: NM_000314
Protein: P60484 (aka PTEN_HUMAN)
CCDS: CCDS31238.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PTEN:
phts (PTEN Hamartoma Tumor Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.