PTEN Gene
protein-coding GIFtS : 73 GCID: GC10 P089613
phosphatase and tensin homolog BZS, MHAM )
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Aliasesfor PTEN gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Phosphatase And Tensin Homolog 1 2 3 DEC2 MMAC11 2 3 5 MMAC1 Phosphatase And Tensin Homolog Deleted On Chromosome 102 TEP11 2 3 Phosphatase And Tensin-Like Protein2 BZS1 2 Phosphatidylinositol 3,4,5-Trisphosphate 3-Phosphatase And Dual-SpecificityProtein Phosphatase PTEN2 MHAM1 2 Phosphatidylinositol-3,4,5-Trisphosphate 3-Phosphatase And Dual-SpecificityProtein Phosphatase PTEN2 PTEN11 2 EC 3.1.3.163 Mutated In Multiple Advanced Cancers 12 3 EC 3.1.3.483 GLM22 5 EC 3.1.3.673 10q23del2
Export aliases for PTEN gene to outside databases Previous GC identifers: GC10P088504 GC10P088844 GC10P089754 GC10P089287 GC10P083258
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Summariesfor PTEN gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene 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, Jul 2008) UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484 Function : Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- andthreonine-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 Gene Wiki entry for PTEN
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Genomic Viewsfor PTEN gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000010.10 NC_018921.1 NT_030059.13 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PTEN gene promoter:ATF-2 Lmo2 Nkx2-5 CREB PPAR-gamma1 deltaCREB STAT3 FOXO1a PPAR-gamma2 FOXO1 Other transcription factors Search SABiosciences Chromatin IP Primers for PTEN Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track 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
Entrez Gene Ensembl GeneLoc information about chromosome 10 GeneLoc Exon Structure
GeneLoc location for GC10P089613: view genomic region
(about GC identifiers )
Start: 89,622,870 bp from pter End:
89,731,687 bp from pter
Size: 108,818 bases Orientation:
plus strand
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Proteinsfor PTEN gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484 See
protein sequence )Recommended Name: Size : 403 amino acids; 47166 DaCofactor : MagnesiumSubunit : Monomer. The unphosphorylated form interacts with the second PDZ domain of AIP1 and with DLG1 and MAST2 invitro. 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
Subcellular location : Cytoplasm. Nucleus. Nucleus, PML body. Note=Monoubiquitinated form is nuclear. Nonubiquitinatedform is cytoplasmic. Colocalized with PML and USP7 in PML nuclear bodies. XIAP/BIRC4 promotes its nuclear localization
2 PDB 3D structures from :1D5R (3D) 2KYL (3D) Secondary accessions : B2R904 O00633 O02679 Q6ICT7Explore the universe of human proteins at neXtProt for PTEN: NX_P60484 Post-translational modifications:
Constitutively phosphorylated by CK2 under normal conditions. 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 proteasome1
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/BIRC41
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P60484 PTEN Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_000305.3 ENSEMBL proteins: ENSP00000361021 Reactome Protein details: P60484 Human Recombinant Protein Products: Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11 ): About this table
About GeneDecksing PTEN Antibody Products: Assay Products for PTEN:
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Protein
Domains /for PTEN gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry P60484 ProtoNet protein and cluster: P60484
1 Blocks protein family : IPB000340 UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484 Domain : The C2 domain binds phospholipid membranes in vitro in a Ca(2+)-independent manner; this binding is importantfor its tumor suppressor function Similarity : Contains 1 C2 tensin-type domainSimilarity : Contains 1 phosphatase tensin-type domain
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Functionfor PTEN gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484 Function : Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- andthreonine-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 + phosphateCatalytic activity : Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphateInduction : Down-regulated by TGFB1
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 Enzyme Numbers (IUBMB): EC 3.1.3.67 1 EC 3.1.3.16 1 EC 3.1.3.48 1 miRNA miRTarBase miRNAs that target PTEN:hsa-mir-21 (MIRT001190 ), hsa-mir-216a (MIRT000534 ), hsa-mir-217 (MIRT000533 ), hsa-mir-19b (MIRT003371 ), hsa-mir-18a (MIRT003370 ), hsa-mir-141 (MIRT003281 ), hsa-mir-19a (MIRT002958 ), hsa-mir-214 (MIRT000799 ), hsa-mir-20a (MIRT003369 ), hsa-mir-222 (MIRT005586 ), hsa-mir-221 (MIRT005585 ), hsa-mir-26a (MIRT001095 ), hsa-mir-494 (MIRT001209 ), hsa-mir-106b (MIRT005865 ), hsa-mir-17 (MIRT000499 ) OriGene 3'-UTR Clone: PTEN Browse MicroRNA Expression Plasmids QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PTEN 8/128 QIAGEN miScript miRNA Assays for microRNAs that regulate PTEN (see all 128 ): hsa-miR-579 hsa-miR-3938 hsa-miR-106a hsa-miR-519a hsa-miR-642b hsa-miR-200b hsa-miR-92b hsa-miR-130b 3'UTR luciferase reporter plasmid : PTEN 3' UTR sequence
Clone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 3 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: PTEN (NM_000314 ) Sino Biological Human cDNA Clone for PTEN DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PTEN Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat PTEN
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTEN
Gene Ontology (GO): 5/15 molecular function terms (GO ID links to tree view) (see all 15 ): About this table
About GeneDecksing 8 GenomeRNAi human phenotypes for PTEN :Animal Models: Pten tm1.2Mwst Pten tm1.1Gle Pten tm1.1Hwu Pten tm1.1Mro Pten tm2.1Gle Pten tm2Hwu Pten tm1Ppp Pten tm1Rps Pten tm1Mak 15/27 MGI mutant phenotypes (inferred from 17 alleles(MGI details for Pten) (see all 27 ):About GeneDecksing
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Pathways & Interactionsfor PTEN gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways - 5/58 super-pathways (see all 58 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Signaling by FGFR 2 PIP3 activates AKT signaling 3 Development IGF-RI signaling 4 Glioma 5 Endometrial cancer
Pathway sources See GeneCards unified pathways Show all pathways 5/8 (see all 8 )1 5/19 (see all 19 )3 5/8 (see all 8 )5/22 (see all 22 ) 5/41 (see all 41 )5/11 (Kegg details for PTEN) (see all 11 ):About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTEN STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/207 Interacting proteins for PTEN (P60484 1 , 2 , 3 ENSP00000361021 4 via UniProtKB, MINT, STRING , and/or I2D (see all 207 )Interactant Interaction Details GeneCard External ID(s) SLC9A3R1 O14745 2 , 3 ENSP00000262613 4 MINT-2832476 MINT-2832448 MINT-2832508 I2D:
score=2 STRING: ENSP00000262613 BMI1 P35226 2 , 3 ENSP00000365851 4 MINT-8291498 MINT-8291473 MINT-8291483 I2D:
score=1 STRING: ENSP00000365851 CAV1 Q03135 2 , 3 ENSP00000339191 4 MINT-6793865 MINT-6793823 I2D:
score=5 STRING: ENSP00000339191 HBA1 P69905 2 , 3 ENSP00000322421 4 MINT-63919 I2D:
score=4 STRING: ENSP00000322421 HBA2 P69905 2 , 3 ENSP00000251595 4 MINT-63919 I2D:
score=4 STRING: ENSP00000251595
About this table Gene Ontology (GO): 5/77 biological process terms (GO ID links to tree view) (see all 77 ): About this table
About GeneDecksing
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Drugs & Compoundsfor PTEN gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section About GeneDecksing Browse Tocris compounds for PTEN 10/383 HMDB Compounds for PTEN (see all 383 )About this table 10/100 Novoseek chemical compound relationships for PTEN gene (see all 100 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
phosphatidylinositol-3,4,5-trisphosphate
84.8
43
11463863 (5), 10377431 (2), 15465874 (1), 17703603 (1) (see all 38 )
phosphatidylinositol
83.4
204
16371363 (3), 12360479 (3), 12743124 (3), 11477064 (3) (see all 99 )
phosphoinositide
80.1
104
11463863 (3), 10555148 (3), 11716755 (3), 12878591 (2) (see all 81 )
ly294002
77.3
33
18483299 (2), 12839945 (2), 15986432 (1), 19618119 (1) (see all 29 )
rapamycin
77.2
94
19115995 (6), 12939469 (3), 18431376 (2), 18332865 (2) (see all 45 )
wortmannin
63.5
22
11230180 (2), 12360479 (2), 11932928 (2), 10400703 (1) (see all 15 )
panitumumab
62.6
2
19806185 (2)
erlotinib
60.8
9
17363510 (3), 19562712 (2), 16282176 (1), 20462843 (1) (see all 6 )
trastuzumab
58.9
54
15324695 (7), 16404430 (6), 16550004 (4), 19016009 (4) (see all 17 )
tyrosine
56.9
115
12869565 (5), 9187108 (4), 11219390 (3), 19723324 (3) (see all 67 )
PTEN
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Transcriptsfor PTEN gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for PTEN gene: NM_000314.4 Unigene Cluster for PTEN:
Phosphatase and tensin homolog Hs.500466 [show with all ESTs ] Unigene Representative Sequence: NM_000314 5 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000371953 (uc001kfb.3 uc021pvw.1 ) ENST00000487939 ENST00000462694 ENST00000498703 ENST00000472832 Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 3 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: PTEN (NM_000314 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PTEN Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat PTEN
Additional cDNA sequence: AK024986.1 AK313581.1 BC005821.2 CR450306.1 JF268690.1 U92436.1 U93051.1 U96180.1
24 DOTS entries : DT.418393 DT.446589
DT.121248879 DT.99934702 DT.100810879 DT.91643032 DT.100780088 DT.207118 DT.97819946 DT.91926931 DT.97842009 DT.121248850 DT.91798136 DT.100768844 DT.121248739 DT.121248890 DT.95090682 DT.95271343 DT.121248723 DT.207117 DT.308329 DT.91647834 DT.91824869 DT.95344490 24/355 AceView cDNA sequences (see all 355 ):
BX483075 AW300608 F02945 BG221117 BU621035 AI828639 AA909145 BG260948 AA483398 CA943539 BX503269 AA603466 BG190968 BQ001795 BM129320 BM129613 BF431855 Z39686 W25211 BU676102 U93051 BG619024 CK819598 BM682340 GeneLoc Exon Structure
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Expression for PTEN gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section PTEN expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image PTEN expression in embryonic tissues and stem cells About this table See PTEN Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PTEN SOURCE GeneReport for Unigene cluster: Hs.500466 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 SABiosciences Expression via Pathway-Focused PCR Arrays including PTEN (see all 23 ): Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTEN
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Orthologsfor PTEN gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for PTEN gene from 9/29 species (see all 29 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
mouse Mammalia Pten1 5
phosphatase and tensin homolog1, 5
96.2(n) 1 99.75(a) 1
19 (28.14 cM) 5 19211 1 NM_008960.2 1 NP_032986.1 1 32757497 5
chicken Aves PTEN1
phosphatase and tensin homolog
91.29(n) 95.52(a)
423675 XM_421555.3 XP_421555.2
lizard Reptilia PTEN6
--
94(a)
1 ↔ 1
GL343246.1(921793-970851)
African clawed frog Amphibia Xl.5612
Xenopus laevis protein/lipid phosphatase Pten (Pten) more
84.75(n)
AF144732.1
zebrafish Actinopterygii pten2
Danio rerio phosphatase and tensin-like protein B short more
78.62(n)
AY398671.1
fruit fly Insecta Pten1 3
insulin receptor signaling pathway actin3 1
44(a) 3 54.05(n) 1 49.84(a) 1
43991 1 NM_058076.3 1 NP_477424.1 1
worm Secernentea daf-183
--
43(a)
IV(420426-425148) --
thale cress eudicotyledons ATPTEN16 6 see all 3 )
Calcium/lipid-binding (CaLB) phosphatasephosphatidylinositol-3,4,5-trisphosphate 3-phospha... (see all 3 )
28(a) 18(a) (see all 3 )
1 ↔ 1possible ortholog(see all 3 )
5(15766037-15768244) 3(6731376-6735623)
rice Liliopsida AK121747.12
--
73.81(n)
AK121747.1
ENSEMBL Gene Tree for PTEN (if available)TreeFam Gene Tree for PTEN (if available)
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Paralogsfor PTEN gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for PTEN gene TNS1 2 DNAJC6 2 TPTE 2 TNS4 2 TNS3 2 TENC1 2 GAK 2 TPTE2 2 8 SIMAP similar genes for PTEN using alignment to 5 protein entries: PTEN_HUMAN (see all proteins ):PTENP1 PTEN2 TENC1 TPTE2 TNS3 TNS1 GAK TPTE About GeneDecksing
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Genomic Variantsfor PTEN gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 10 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for PTEN (89622870 - 89731687 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for PTEN 1 CNV 101003 1 Indel 65753 Human Gene Mutation Database (HGMD) : PTEN 5/45 SABiosciences Cancer Mutation PCR Assays for PTEN (see all 45 ):
5/19 SABiosciences Cancer Mutation PCR Arrays containing PTEN (see all 19 ):
4 SABiosciences qBiomarker Copy Number PCR Arrays containing PTEN :
QIAGEN SeqTarget long-range PCR primers in human mouse rat
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Disorders
/ Diseasesfor PTEN gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section About GeneDecksing OMIM gene information: 601728 OMIM disorders : 158350 153480 607174 613028 605309 276950 176807 188470 155600 608089 275355 UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484 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-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 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 Defects in PTEN are a cause of susceptibility to endometrial cancer (ENDMC) [MIM:608089] 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 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 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 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 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) 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 20/269 (see all 269 ): About MalaCards birt-hogg-dube syndrome bannayan-riley-ruvalcaba syndrome li-fraumeni syndrome pten hamartoma tumor syndrome (phts) pten hamartoma tumor syndrome peutz-jeghers syndrome von hippel-lindau disease gliomatosis cerebri mature t-cell and nk-cell neoplasm squamous cell carcinoma, head and neck, somatic vater association with macrocephaly and ventriculomegaly proteus-like syndrome b-cell non-hodgkin lymphoma cowden-like syndrome supratentorial primitive neuroectodermal tumor cerebral cavernous malformations thyroid carcinoma, follicular, somatic diffuse large b-cell lymphoma cavernous malformation vacterl association 17 diseases from the University of Copenhagen DISEASES database for PTEN :Cowden disease Bannayan-Riley-Ruvalcaba syndrome Malignant glioma Endometrial cancer Prostate cancer Carcinoma Proteus syndrome Breast cancer Peutz-Jeghers syndrome Colorectal cancer Ovarian cancer Thyroid cancer Melanoma Lung cancer Gangliocytoma Parkinson's disease Lipomatosis 10/97 Novoseek disease relationships for PTEN gene (see all 97 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
cowden disease
96
261
16007494 (5), 14675182 (4), 11918710 (3), 12620973 (3) (see all 99 )
bannayan-zonana syndrome
89.2
20
10232405 (2), 9241266 (1), 9620558 (1), 11964046 (1) (see all 18 )
glioblastoma
84.1
272
9690672 (9), 9426052 (8), 19190120 (6), 12904991 (6) (see all 99 )
tumors
82.1
2252
9605750 (8), 12684422 (7), 16027168 (6), 11595133 (6) (see all 99 )
endometrial carcinoma
81.3
266
19224164 (8), 12001116 (6), 17009632 (6), 10851265 (5) (see all 96 )
juvenile polyposis syndrome
81
10
19381654 (1), 9399897 (1), 11005140 (1), 9661881 (1) (see all 9 )
proteus syndrome
76.9
28
15372512 (4), 18431376 (2), 17483958 (2), 16704655 (2) (see all 19 )
macrocephaly
76.6
50
17427195 (5), 15805158 (4), 17286265 (3), 19265751 (3) (see all 22 )
cancer
76.4
660
12370746 (6), 15132901 (4), 17341655 (4), 19285250 (4) (see all 99 )
carcinoma endometrioid
75.6
51
18653908 (4), 12405911 (4), 11156411 (4), 15668893 (3) (see all 23 )
GeneTests: PTEN PTEN Hamartoma Tumor Syndrome (PHTS) Genetic Association Database (GAD): PTEN Human Genome Epidemiology (HuGE) Navigator: PTEN (125 documents) Export disorders for PTEN gene to outside databases
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Publicationsfor PTEN gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for PTEN gene, integrated from 9 sources (see all 2346 ):(articles sorted by number of sources associating them with PTEN) Utopia : connect your pdf to the dynamic
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. (PubMed id 15805158) 1 , 2 , 4, 9(2005) Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. (PubMed id 9090379) 1 , 2 , 3, 9(1997) The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. (PubMed id 9345101) 1 , 2 , 4(1997) Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases. (PubMed id 15951562) 1 , 2 , 9(2005) Phosphorylation of the PTEN tail acts as an inhibitory switch by preventing its recruitment into a protein complex. (PubMed id 11707428) 1 , 2 , 9(2001) Evaluation of germline PTEN mutations in endometrial cancer patients. (PubMed id 15589575) 1 , 4, 9(2005) PTEN coordinates G1 arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model. (PubMed id 11230179) 1 , 2 , 9(2001) TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta. (PubMed id 9187108) 1 , 2 , 9(1997) PTEN gene mutation and high MIB-1 labeling index may contribute to dissemination in patients with glioblastoma. (PubMed id 14642363) 1 , 4, 9(2004) PTEN mutation, EGFR amplification, and outcome in patients with anaplastic astrocytoma and glioblastoma multiforme. (PubMed id 11504770) 1 , 4, 9(2001)
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External Searches for PTEN gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing PTEN gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing PTEN gene
(According to HUGE )
About This Section --
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Specialized Databases showing PTEN gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description PharmGKB entry for PTEN Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for PTENGenetics and Cytogenetics in Oncology and Haematology GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PTEN NIEHS-SNPs http://egp.gs.washington.edu/data/pten/
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About This Section Patent Information for PTEN gene: PTEN GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor PTEN gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for PTEN OriGene shRNA RFP for PTEN OriGene 29mer shRNA kits in GFP-retroviral vector in human mouse rat OriGene genome-wide validated SYBR primer pairs in human mouse rat OriGene Protein Over-expression Lysate for PTEN Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for PTEN OriGene 3'-UTR Clone for PTEN OriGene untagged cDNA clones in CMV expression vector in human mouse rat OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for PTEN OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for PTEN OriGene Custom Protein Services for PTEN OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PTEN QIAGEN SeqTarget long-range PCR primers in human mouse rat QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
Antibodies & Assays for PTEN
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTEN
ThermoFisher Antibody for PTEN
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat PTEN
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and Proteopedia 
for PTEN:
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Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine 
Anatomical Compartment 
Negative
Selective marker
Microarrays
In-situ hybridization
