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PTEN Gene

protein-coding   GIFtS: 74

GC10P089613
phosphatase and tensin homolog
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: BZS, MHAM)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
10q23del 2
BZS 2
EC 3.1.3.67,EC 3.1.3.16,EC 3.1.3.48 3
MGC11227 2
MHAM 2
MMAC1 1, 2, 3, 5
OTTHUMP00000020032 2
PTEN1 1, 2
TEP1 1, 2, 3
Descriptions
MMAC1 phosphatase and tensin homolog deleted on chromosome
10 2
Mutated in multiple advanced cancers 1 2, 3
phosphatase and tensin homolog 2, 3
External Ids
HGNC: 95881
Entrez Gene: 57282
UniProtKB: P604843
Ensembl: ENSG000001718627
Search outside databases for aliases for PTEN gene

Previous GC identifers: GC10P088504 GC10P088844 GC10P089754 GC10P089287

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for PTEN:
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]

UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484
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. May be a negative regulator of insulin signaling and
glucose metabolism in adipose tissue

Gene Wiki entry for PTEN

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PTEN gene  

Entrez Gene cytogenetic band: 10q23.3   Ensembl cytogenetic band:  10q23.31   HGNC cytogenetic band: 10q23

PTEN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P089613:     (about GC identifiers)

Start:
89,613,175 bp from pter
End:
89,718,512 bp from pter
Size:
105,338 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000010.9  NT_030059.12  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484 (See protein sequence)
Recommended Name: Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase and dual-specificity
protein phosphatase PTEN  
Size: 403 amino acids; 47166 Da
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
Subcellular location: Cytoplasm
PDB structures from and Proteopedia :
1D5R (3D)    
Secondary accessions: O00633 O02679 Q6ICT7

Post-translational modifications:

  • Phosphorylated in vitro by MAST1, MAST2 and MAST3. Phosphorylation results in an inhibited activity
    towards PIP3. Phosphorylation can both inhibit or promote PDZ-binding1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000305.3  

    ENSEMBL proteins: 
    ENSP00000361021 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Millipore Purified and/or Recombinant PTEN Protein
    Sigma-Aldrich CompoZr ZFN for PTEN  
    R&D Systems Recombinant & Natural Proteins for PTEN
    Enzo Life Sciences proteins for PTEN
    Recombinant Proteins from Abcam (PTEN)
    Human Recombinant Proteins from Abnova (PTEN)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA17218261
    GO:0005737 cytoplasm TAS9367992
    GO:0005829 cytosol EXP9593664
    About this table

    Antibodies for PTEN: 
    Invitrogen Antibodies for PTEN
    Millipore Mono- and Polyclonal Antibodies for the study of PTEN
    Sigma-Aldrich Antibody Arrays and Antibodies for PTEN
    R&D Systems Antibodies for PTEN
    Cell Signaling Technology (CST) Antibodies for PTEN 
    Antibodies from Abcam (PTEN), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (PTEN)
    Novus Biologicals Antibodies for PTEN

    Assays for PTEN: 
    Browse Invitrogen for biochemical assays
    Millipore Kits and Assays for the Analysis of PTEN
    R&D Systems ELISAs for PTEN         (see all)
    Cell Signaling Technology (CST) Sandwich ELISA Kits for PTEN
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    4 InterPro domains/families:
     IPR014019 Phosphatase_tensin-typ
     IPR017361 Bifunc_PIno_P3_Pase/Pase_PTEN
     IPR000340 Tyr_Pase_dual_specific
     IPR014020 Tensin_phosphatase_C2-dom


       GeneDecks  PTEN for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P60484

    ProtoNet protein and cluster: P60484

    1 Blocks protein family: IPB000340 Dual specificity protein phosphatase

    UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484
    Domain: The C2 domain binds phospholipid membranes in vitro in a Ca(2+)-independent manner; this
    binding is important for its tumor suppressor function
    Similarity: Contains 1 C2 tensin-type domain
    Similarity: Contains 1 phosphatase tensin-type domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PTEN)
    Millipore RNAi Products for the Analysis of PTEN Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (PTEN)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000314

                  Applied Biosystems Silencer® siRNAs for PTEN

                  Sigma-Aldrich siRNA and siRNA Panels for PTEN  
                         Sigma-Aldrich shRNA Panels and shRNA for PTEN  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for PTEN
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000314
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000314
                                     untagged cDNA clone in CMV expression vector: NM_000314 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000314

    UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484
    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. May be a negative regulator of insulin signaling and
    glucose metabolism in adipose tissue
    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
    Induction: Down-regulated by transforming growth factor beta (TGF-beta)
    Enzyme Number (IUBMB): EC 3.1.3.67,EC 

    Genatlas biochemistry entry for PTEN:
    phosphatase and tensin homolog,antagonizing signal transduction downstream of PI-3 kinase by
    dephosphorylating phosphatidylinositol-phosphate (PtdInsP),expressed in normal colon,tumor
    suppressor gene,modulating cell cycle progression and cell survival,negative regulator of cell
    interactions with the extracellular matrix,mutated in multiple advanced cancers (prostate and
    colorectal carcinoma,primary glioblastoma,renal cell carcinoma,breast and brain cancer,small cell
    lung cancer,squamous cell carcinoma of head and neck,sporadic follicular thyroid tumor,Cowden
    syndrome,melanoma and Bannayan Zonana syndrome,endometrial atypical hyperplasia,high grade
    astrocytoma,lymphoid neoplasms,laryngeal tumors),inversely correlated with AKF1

    15/23 MGI mutant phenotypes (inferred from 13 alleles(MGI details for Pten) (see all 23 ):

    behavior/neurologicalcraniofacialdigestive/alimentaryembryogenesis
    endocrine/exocrine glandgrowth/sizehematopoietic systemhomeostasis/metabolismimmune system
    lethality-postnatallethality-prenatal/perinatallife span-post-weaning/aginglimbs/digits/tailliver/biliary system

    5/13 Gene Ontology (GO) molecular function terms (links to tree view) (see all 13 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287 magnesium ion binding IEA--
    GO:0004438 phosphatidylinositol-3-phosphatase activity IDA9811831
    GO:0004722 protein serine/threonine phosphatase activity IDA9256433
    GO:0004725 protein tyrosine phosphatase activity IDA9256433
    GO:0005161 platelet-derived growth factor receptor binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5/11 Invitrogen iPath™ Online BioAtlas - Pathways for PTEN (see all 11 ) (Maps provided by GeneGo):
     Role of CD28 signaling in cytoskeleton reorganization
     PTEN pathway
     BCR pathway
     EGFR signaling via PIP3
     Insulin receptor signaling pathway

       GeneDecks  PTEN for the pathways selected above  
    About GeneDecksing

    5/8 Millipore Pathways for PTEN (see all 8 )
     Development EGFR signaling via PIP3
     Immune response BCR pathway
     Signal transduction PTEN pathway
     Cytoskeleton remodeling FAK signaling
     Transcription Receptor-mediated HIF regulation

       GeneDecks  PTEN for the pathways selected above  
    About GeneDecksing

    5/18 Sigma-Aldrich "Your Favorite Gene" Pathways for  PTEN  (Your Favorite Gene powered by Ingenuity) (see all 18
     PTEN Signaling
     Glioma Signaling
     Inositol Phosphate Metabolism
     p53 Signaling
     Tight Junction Signaling

       GeneDecks  PTEN for the pathways selected above  
    About GeneDecksing

    4 Cell Signaling Technology (CST) Pathways for PTEN: 
     Translational Control: Regulation of eIF2
     Insulin Receptor Signaling
     B Cell Receptor Signaling
     Akt/PKB Signaling

       GeneDecks  PTEN for the pathways selected above  
    About GeneDecksing

    5/11 Kegg Pathways  (Kegg details for PTEN) (see all 11 ):
     hsa00562 Inositol phosphate metabolism
     hsa04070 Phosphatidylinositol signaling system
     hsa04115 p53 signaling pathway
     hsa04510 Focal adhesion
     hsa04530 Tight junction

       GeneDecks  PTEN for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  PTEN 


    5/224 Interacting proteins for PTEN (ENSP000003610213 P604841, 2) via UniProtKB, MINT, and/or STRING (see all 224 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAST3O603071STRING (score=.78) EBI-696162, EBI-311420
    SLC9A3R2Q155992STRING (score=.996) MINT-2832573 MINT-2832684 MINT-2832646 MINT-2832774 MINT-2832546
    SLC9A3R1O147452STRING (score=.997) MINT-2832476 MINT-2832448 MINT-2832508
    PDGFRBP096192STRING (score=.992) MINT-2832984
    HSPA5P110211EBI-696162, EBI-354921
    About this table

    5/19 Gene Ontology (GO) biological process terms (links to tree view) (see all 19 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000079 regulation of cyclin-dependent protein kinase activity TAS10918569
    GO:0001525 angiogenesis IEA--
    GO:0006470 protein amino acid dephosphorylation TAS9367992
    GO:0006629 lipid metabolic process IEA--
    GO:0006917 induction of apoptosis ISS--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for PTEN
    10/45 Novoseek chemical compound relationships for PTEN gene (see all 45 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol-3,4,5-trisphosphate 85.17 40 11463863 (5), 10377431 (2), 15465874 (1), 17703603 (1) (see all 36)
    phosphatidylinositol 83.34 196 16371363 (3), 12360479 (3), 12743124 (3), 11477064 (3) (see all 99)
    phosphoinositide 79.20 92 11463863 (3), 10555148 (3), 11716755 (3), 12878591 (2) (see all 70)
    wortmannin 64.74 20 11230180 (2), 12360479 (2), 11932928 (2), 10400703 (1) (see all 14)
    tyrosine 54.56 104 12869565 (5), 9187108 (4), 11219390 (3), 9072974 (3) (see all 60)
    lipid 52.41 210 15273733 (4), 11230179 (4), 18332865 (4), 10644997 (4) (see all 99)
    gw501516 48.04 6 18390835 (5), 16061473 (1)
    threonine 44.79 20 15951562 (4), 11875759 (1), 17667591 (1), 12626642 (1) (see all 11)
    phosphatidylinositol phosphate 43.87 3 12857747 (1), 16675164 (1), 18220422 (1)
    inositol 1,3,4,5,6-pentakisphosphate 38.32 3 11418101 (2), 14561749 (1)
    About this table

    1 PharmGKB drug compound relationship for PTEN gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    trastuzumabPD  15324695
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PTEN)
    Millipore RNAi Products for the Analysis of PTEN Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (PTEN)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000314

                  Sigma-Aldrich siRNA and siRNA Panels for PTEN  
                         Sigma-Aldrich shRNA Panels and shRNA for PTEN  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000314  

    REFSEQ mRNAs for PTEN gene: 

    NM_000314.4   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000314  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000314
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000314
                                     untagged cDNA clone in CMV expression vector: NM_000314 

    Additional cDNA sequence: 

    AK024986.1 AK313581.1 BC005821.2 CR450306.1 CR624542.1 U92436.1 U93051.1 U96180.1 

    24/25 DOTS entries (see all 25 ):

    DT.418393  DT.446589  DT.121248879  DT.100810879  DT.99934702  DT.91643032  DT.100780088  DT.207118 
    DT.97819946  DT.91926931  DT.97842009  DT.121248850  DT.207117  DT.91798136  DT.100768844  DT.121248739 
    DT.121248890  DT.91729580  DT.95090682  DT.95344490  DT.121248723  DT.308329  DT.91647834  DT.91824869 

    24/355 AceView cDNA sequences (see all 355 ):

    BM719003 BF433618 BU431202 BX375027 AA766137 BQ006553 CK819732 CA943539 
    CK819731 CK819599 BX479593 BX503269 AA954077 BU676066 BQ224808 BM717806 
    CR450306 AW197432 CB243436 NM_000314 AI869053 AA857459 AA609756 Z39686 

    highest scoring ESTs for PTEN:

    U92436 AA001098 AA017584 AA527846 AA609756 AA632413 AA635826 AA648435 AA730616 AA742608 

    Unigene Cluster for PTEN:

    Phosphatase and tensin homolog
    Hs.500466  [show with all ESTs]
    Unigene Representative Sequence: NM_000314


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000371953  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    PTEN expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for PTEN

    1 / 2 / 3

    23 probe-sets matching PTEN gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    58901_at2, 3 U95-C 1 1.00 1.00 0.63 1.76 AW021543 0.60 1.00 0.82 1

    1434_at2, 3 U95-A 2 1.00 0.59 0.88 0.67 U92436 1.00 0.90 0.95 1

    39552_at2, 3 U95-A 2 1.00 0.56 0.95 0.64 U92436 1.00 0.90 0.95 1
    31675_s_at2, 3 U95-A 4 1.00 0.25 0.91 0.94 AF019083 0.40 0.25 0.33 2

    54292_at*2, 3 U95-C 1 -- -- -0.11 0.22 T86737 0.20 1.00 0.72 1

    233314_at2, 3 U133-B 1 1.00 1.00 -- -- AK021487 0.40 1.00 0.76 1

    225363_at2, 3 U133-B 1 1.00 1.00 -- -- AK024986 0.40 1.00 0.76 1

    233254_x_at2, 3 U133-B 3 1.00 0.91 -- -- AU144828 0.60 1.00 0.82 1

    204054_at2, 3 U133-A 2 1.00 0.64 -- -- NM_000314 0.60 1.00 0.82 1

    211711_s_at2, 3 U133-A 3 1.00 0.39 -- -- BC005821 0.80 1.00 0.91 1

    204053_x_at2, 3 U133-A 4 1.00 0.39 -- -- U96180 0.80 1.00 0.91 1

    217492_s_at2, 3 U133-A 4 1.00 0.25 -- -- AF023139 0.20 0.25 0.23 2

    222176_at*2, 3 U133-A NULL 0.00 0.00 -- -- AK021487 0.40 1.00 0.76 1

    242622_x_at*2, 3 U133-B NULL 0.00 0.00 -- -- T86737 0.20 1.00 0.72 1

    233314_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    225363_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    233254_x_at2 U133Plus2 3 1.00 0.91 -- -- -- -- -- -- --

    204054_at2 U133Plus2 2 1.00 0.64 -- -- -- -- -- -- --

    211711_s_at2 U133Plus2 3 1.00 0.39 -- -- -- -- -- -- --

    204053_x_at2 U133Plus2 4 1.00 0.39 -- -- -- -- -- -- --

    217492_s_at2 U133Plus2 4 1.00 0.25 -- -- -- -- -- -- --

    222176_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --

    242622_x_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --
    GeneDecks  PTEN for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.500466

    Expression variation in blood from EXPOLDB for PTEN

    UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484
    Tissue specificity: Expressed at a relatively high level in all adult tissues, including heart,
    brain, placenta, lung, liver, muscle, kidney and pancreas

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for PTEN gene from 5/15 species (see all 15 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    PTEN1   -- phosphatase and tensin homolog 96.69(n)
    100(a)
    403832  NM_001003192.1  NP_001003192.1 
    chimpanzee
    (Pan troglodytes)
    PTEN1   -- phosphatase and tensin homolog 99.81(n)
    100(a)
    466142  XM_521544.2  XP_521544.2 
    cow
    (Bos taurus)
    PTEN1   -- phosphatase and tensin homolog 97.36(n)
    98.31(a)
    540786  XM_613125.3  XP_613125.3 
    rat
    (Rattus norvegicus)
    Pten1   -- phosphatase and tensin homolog 95.53(n)
    99.5(a)
    50557  NM_031606.1  NP_113794.1 
    mouse
    (Mus musculus)
    Pten1, 5 19 (24.50 cM)5
    phosphatase and tensin homolog1, 5 96.2(n)1
    99.75(a)1
    192111  NM_008960.21  NP_032986.11 
     AA2148685  AI4491545  (see all 29)
    About this table        Species with no ortholog for PTEN

    ENSEMBL Gene Tree for PTEN
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for PTEN gene
    DNAJC62  TPTE2  GAK2  LOC2201152  TPTE22  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/524 NCBI SNPs in PTEN are shown (see all 524 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 255)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 10 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs7018481,2
    A,C,F,H,O89716725(+) AGGGCT/CTCAAT 1 -- ut31 ese327Minor allele frequency- C:0.31EA NA WA MN CSAM NS EU 1888
    rs112026071,2
    C,F,H89717394(+) TAAAAC/TGTAAC 1 -- ut31 ese39Minor allele frequency- T:0.07NS EU EA WA 604
    --
    rs125737871,2
    C,F89613696(+) AGCGGG/AGGGGA 1 -- ut51 ese3 trp35Minor allele frequency- A:0.19NS 178
    rs115914271,2
    C,H89718030(+) ATAAAA/TGTAGG 1 -- ut31 ese34Minor allele frequency- T:0.00EU EA WA 406
    --
    rs10444921,2
    C,H89715712(-) CCATTC/GCCCTA 1 -- ut315Minor allele frequency- G:0.00MN EU EA WA 598
    rs21421351,2
    A,C89716853(+) TTCCAG/AAAATT 1 -- ut315Minor allele frequency- A:0.00MN CSAM EA 396
    --
    rs27353471,2
    C,H89716166(+) TGCTGT/GTAGTA 1 -- ut319Minor allele frequency- G:0.00MN CSAM EA EU WA 820
    --
    rs112025921,2
    C,F89614198(+) ACAGGC/GTCCCA 1 -- ut51 ese310Minor allele frequency- G:0.01NS MN CSAM EA 580
    rs10443221,2
    C89613303(-) AGTCCC/TGCCAC 1 -- ut515Minor allele frequency- T:0.01NS 148
    --
    rs10444871,2
    C89715274(-) AAAAAA/GGGTCC 1 -- ut31 trp31Minor allele frequency- G:0.00MN 184
    About this table

    HapMap Linkage Disequilibrium images for PTEN (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 601728

    UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484

  • Mutations of PTEN are found in a large number of cancers
  • 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
  • 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
  • Defects in PTEN are a cause of Bannayan-Zonana syndrome (BZS) [MIM:153480]; also known as
    Ruvalcaba-Riley-Smith 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
  • Defects in PTEN are a cause of squamous cell carcinoma of the head and neck (HNSCC)
    [MIM:275355]
  • Defects in PTEN are a cause of susceptibility to endometrial cancer [MIM:608089]
  • Defects in PTEN are a cause of Proteus syndrome [MIM:176920]. Proteus syndrome is a
    hamartomatous disorder characterized by overgrowth of multiple tissues, connective tissue and
    epidermal naevi, and vascular malformations. These presentations are usually apparent at birth or
    soon after and continue to develop as the patient ages. It is named after the Greek god Proteus
    who, legend has it, could change his shape at will to avoid capture. Tumors, mostly benign but
    some malignant, have also been reported in Proteus syndrome, generally presenting by the age of 20
    years and including papillary adenocarcinoma of the testis, meningioma, and cystadenoma of the
    ovaries
  • Defects in PTEN are a cause of oligodendroglioma [MIM:137800]; also called
    oligodendroblastoma or familial glioma of brain. Oligodendroglioma is a usually benign neoplasm
    derived from and composed of oligodendrogliocytes in varying stages of differentiation. The
    majority are seen in adults in the white matter of the brain
  • Defects in PTEN are a cause of VACTERL association with hydrocephalus [MIM:276950]; which
    includes also VATER association with hydrocephalus. VACTERL is an acronym for vertebral anomalies,
    anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial
    dysplasia, and other limb defects
  • Defects in PTEN are involved in prostate cancer [MIM:176807]
  • Defects in PTEN are a cause of macrocephaly/autism syndrome [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)
  • A microdeletion of chromosome 10q23 involving PTEN and BMPR1A is a cause of chromosome
    10q23 deletion syndrome [MIM:612242]. This syndrome shows overlapping features of the following
    three disorders: Bannayan-Zonana syndrome, Cowden disease and juvenile polyposis syndrome
  • 10/97 Novoseek disease relationships for PTEN gene (see all 97 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    cowden disease 96.24 254 16007494 (5), 14675182 (4), 11918710 (3), 12620973 (3) (see all 99)
    bannayan-zonana syndrome 89.86 20 10232405 (2), 9241266 (1), 9620558 (1), 11964046 (1) (see all 18)
    glioblastoma 83.86 249 9690672 (9), 9426052 (8), 19190120 (6), 12904991 (6) (see all 99)
    tumors 81.24 2022 9605750 (8), 12684422 (7), 16027168 (6), 11595133 (6) (see all 99)
    juvenile polyposis syndrome 81.08 8 9399897 (1), 11005140 (1), 9661881 (1), 15378062 (1) (see all 7)
    endometrial carcinoma 80.98 248 19224164 (8), 12001116 (6), 17009632 (6), 10851265 (5) (see all 86)
    macrocephaly 77.42 48 17427195 (5), 15805158 (4), 17286265 (3), 19265751 (3) (see all 20)
    proteus syndrome 76.90 28 15372512 (4), 18431376 (2), 17483958 (2), 16704655 (2) (see all 19)
    cancer 75.33 573 12370746 (6), 15132901 (4), 19285250 (4), 18794882 (4) (see all 99)
    hamartoma 75.17 52 18986487 (3), 18794875 (2), 18781191 (2), 9467011 (2) (see all 38)
    About this table

    2 PharmGKB disease relationships for PTEN gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Breast NeoplasmsPD  15324695
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872
    About this table

    GeneTests: PTEN
    PTEN Hamartoma Tumor Syndrome (PHTS)

    Human Gene Mutation Database: PTEN
    Genetic Association Database: PTEN
    Human Genome Epidemiology Navigator: PTEN (61 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/1731 PubMed articles for PTEN gene (see all 1731 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 5728 HGNC: 9588 AceView: PTEN Ensembl:ENSG00000171862 euGenes: HUgn5728
    ECgene: PTEN H-InvDB: PTEN
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for PTEN Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=PTEN
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pten/
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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