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Aliases &
Descriptions
for PTEN gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
User Feedback | | Aliases & Descriptions |
|---|
| phosphatase and tensin homolog1 2 3 | | BZS2 | | MMAC11 2 3 5 | | phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase and dual-specificityprotein phosphatase PTEN2 | | TEP11 2 3 | | 10q23del2 | | PTEN11 2 | | MGC112272 | | Mutated in multiple advanced cancers 12 3 | | MHAM2 | | MMAC1 phosphatase and tensin homolog deleted on chromosome 102 | | EC 3.1.3.67,EC 3.1.3.16,EC 3.1.3.483 | | DEC2 | | |
Search outside databases for aliases for PTEN genePrevious GC identifers: GC10P088504 GC10P088844 GC10P089754 GC10P089287 |
Summaries
for PTEN gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
User Feedback | 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. Theprotein encoded this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin likedomain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlikemost 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 atumor suppressor by negatively regulating AKT/PKB signaling pathway. (provided by RefSeq)
UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484Function: 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 theinositol 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 vitroPtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4. The lipid phosphatase activity is critical for its tumorsuppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and therebymodulating cell cycle progression and cell survival. The unphosphorylated form cooperates with AIP1 to suppress AKT1activation. Dephosphorylates tyrosine-phosphorylated focal adhesion kinase and inhibits cell migration andintegrin-mediated cell spreading and focal adhesion formation. Plays a role as a key modulator of the AKT-mTORsignaling 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 ofinsulin signaling and glucose metabolism in adipose tissue
Gene Wiki entry for PTEN |
Genomic Views
for PTEN gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl (release 56),
Regulatory elements and Epigenetics data according to
SABiosciences)
About This Section
User Feedback | Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PTEN gene upstream (promoter) region  :
STAT3 FOXO1a CUTL1 CREB ATF-2 deltaCREB Egr-1 PPAR-gamma1 PPAR-gamma2 NF-1
Epigenetics:
SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for PTEN: 
MePH28526-1A
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: 10q23PTEN 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: 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 |
RefSeq DNA sequence:- NC_000010.10 NT_030059.13
| Proteins
for PTEN gene
(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
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene,
Novus Biologicals, and/or
Sino Biological,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 May 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abnova,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
User Feedback | 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 invitro. Interacts with MAGI2, MAGI3, MAST1 and MAST3, but neither with MAST4 nor with DLG5. Interaction with MAGI2increases protein stability. Interacts with NEDD4. Interacts (via C2 domain) with FRK
Subcellular location: Cytoplasm
PDB structures from  and Proteopedia  :1D5R (3D)
Secondary accessions: B2R904 O00633 O02679 Q6ICT7Post-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-binding. Phosphorylation at Tyr-336 by FRK/PTK5 protects this proteinfrom ubiquitin-mediated degradation probably by inhibiting its binding to NEDD41
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000305.3
ENSEMBL proteins: ENSP00000361021
Human Recombinant Proteins
4 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
PTEN for ontologies About GeneDecksing
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 |  | Monoclonal and Polyclonal Antibodies from Abnova (PTEN) |  | Origene Antibodies: PTEN 
|  | Novus Biologicals Antibodies for PTEN |  | Epitomics antibodies for PTEN |
Assays for PTEN: | Protein
Domains/
Families
for PTEN gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
User Feedback |
PTEN for domains About GeneDecksing
5/6 InterPro domains/families (see all 6
):Graphical View of Domain Structure for InterPro Entry P60484ProtoNet protein and cluster: P60484 1 Blocks protein family: IPB000340 Dual specificity protein phosphatase
UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484Domain: The C2 domain binds phospholipid membranes in vitro in a Ca(2+)-independent manner; this binding is importantfor its tumor suppressor functionSimilarity: Contains 1 C2 tensin-type domainSimilarity: Contains 1 phosphatase tensin-type domain | Gene Function
for PTEN gene
(According to MGI May 08 2010, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Millipore,
Abnova,
siRNAs from
Applied Biosystems,
Sigma-Aldrich, Clones from
Millipore,
Sigma-Aldrich,
OriGene,
Sino Biological,
Ontologies according to Gene Ontology Consortium 01 May 2010 via
Entrez Gene.)
About This Section
User Feedback | UniProtKB/Swiss-Prot: PTEN_HUMAN, P60484Function: 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 theinositol 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 vitroPtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4. The lipid phosphatase activity is critical for its tumorsuppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and therebymodulating cell cycle progression and cell survival. The unphosphorylated form cooperates with AIP1 to suppress AKT1activation. Dephosphorylates tyrosine-phosphorylated focal adhesion kinase and inhibits cell migration andintegrin-mediated cell spreading and focal adhesion formation. Plays a role as a key modulator of the AKT-mTORsignaling 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 ofinsulin signaling and glucose metabolism in adipose tissueCatalytic activity: Phosphatidylinositol 3,4,5-trisphosphate + H(2)O = phosphatidylinositol 4,5-bisphosphate +phosphateCatalytic activity: A phosphoprotein + H(2)O = a protein + phosphateCatalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphateInduction: 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 dephosphorylatingphosphatidylinositol-phosphate (PtdInsP),expressed in normal colon,tumor suppressor gene,modulating cell cycleprogression and cell survival,negative regulator of cell interactions with the extracellular matrix,mutated inmultiple advanced cancers (prostate and colorectal carcinoma,primary glioblastoma,renal cell carcinoma,breast andbrain cancer,small cell lung cancer,squamous cell carcinoma of head and neck,sporadic follicular thyroid tumor,Cowdensyndrome,melanoma and Bannayan Zonana syndrome,endometrial atypical hyperplasia,high grade astrocytoma,lymphoidneoplasms,laryngeal tumors),inversely correlated with AKF1 5/14 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 14
): About this table
PTEN for ontologies About GeneDecksing
Animal Models: 15/23 MGI mutant phenotypes (inferred from 19 alleles ) (MGI details for Pten) (see all 23
):
PTEN for phenotypes About GeneDecksing
| Pathways & Interactions
for PTEN gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
Applied Biosystems GeneAssist,
KEGG
and/or UniProtKB,
(map by GeneGo),
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 May 2010 via
Entrez Gene).
About This Section
User Feedback |
PTEN for pathways About GeneDecksing
5/8 Millipore Pathways for PTEN (see all 8
)
5/23 Sigma-Aldrich "Your Favorite Gene" Pathways for PTEN (Your Favorite Gene powered by Ingenuity) (see all 23
)
5/23  GeneAssist Pathways for PTEN (see all 23
)
4
Cell Signaling Technology (CST) Pathways for PTEN:
5/11  Kegg Pathways (Kegg details for PTEN) (see all 11
):
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTEN
5/77 Interacting proteins for PTEN (ENSP000003610213 P604841, 2) via UniProtKB, MINT, and/or STRING (see all 77
) About this table
5/39 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 39
): About this table
PTEN for ontologies About GeneDecksing
|
Drugs & Compounds
for PTEN gene(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
User Feedback |
PTEN for compounds About GeneDecksing
 |
Enzo Life Sciences drugs & compounds for PTEN |
 Browse Tocris compounds for PTEN
10/312  Novoseek chemical compound relationships for PTEN gene (see all 312
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| phosphoinositide |
100.00 |
138 |
11716755 (3), 11463863 (3), 10555148 (3), 9593664 (2) (see all 100) |
| phosphatidylinositol |
100.00 |
217 |
16371363 (3), 12743124 (3), 12360479 (3), 11477064 (3) (see all 100) |
| phosphatidylinositol-3,4,5-trisphosphate |
94.71 |
60 |
9593664 (6), 11463863 (5), 18303120 (2), 12847108 (2) (see all 48) |
| rapamycin |
33.87 |
95 |
19115995 (8), 18215105 (4), 12414639 (4), 18332865 (3) (see all 69) |
| ly294002 |
32.65 |
47 |
16842970 (3), 18483299 (2), 18391984 (2), 18043744 (2) (see all 40) |
| cetuximab |
26.48 |
36 |
19953097 (4), 19398573 (4), 19212633 (4), 19165235 (4) (see all 12) |
| trastuzumab |
23.59 |
46 |
15324695 (7), 16404430 (6), 19188134 (5), 19016009 (4) (see all 21) |
| rosiglitazone |
15.84 |
38 |
17506947 (6), 16425225 (6), 18334011 (5), 16775433 (5) (see all 13) |
| gefitinib |
14.90 |
35 |
16322337 (5), 14555504 (5), 16386327 (4), 16600976 (3) (see all 16) |
| wortmannin |
10.25 |
27 |
17975737 (3), 12888921 (3), 12360479 (2), 11932928 (2) (see all 20) |
About this table
1 PharmGKB drug compound relationship for PTEN gene
| Drug compound |
PharmGKB Relations |
PubMed IDs for articles supporting these relationships |
| trastuzumab | PD | 15324695 | About this table
|
Transcripts
for PTEN gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 223 Homo sapiens; Apr 2 2010) 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
Millipore and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Primers from
OriGene and/or
SABiosciences,
Expression Assays from Applied Biosystems)
About This Section
User Feedback | Assays:  Applied Biosystems TaqMan® Gene Expression Assays: NM_000314
| Clones: | | Origene GFP tagged cDNA clones in CMV expression vector: PTEN
Origene Myc/DDK tagged cDNA clones in CMV expression vector: PTEN
Origene untagged cDNA clones in CMV expression vector: PTEN
|
| Primers: | | Origene genome-wide validated SYBR primer pairs: PTEN
| | | SABiosciences RT2 qPCR Primer Assay for PTEN: PPH00327A |
REFSEQ mRNAs for PTEN gene: NM_000314.4 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
): CK819599 CR624542 CK725172 AA587186 BX348604 AA832178 AA026562 BM090922 AW023442 BM129336 CA944942 BI495846 Z39686 CK819731 AI651850 AA424696 BQ008991 AA714734 AA370757 AL119561 BG190968 BF431855 AA805936 W81062
 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
5 Ensembl transcripts including schematic representations: ENST00000498703
ENST00000472832
ENST00000487939
ENST00000462694
ENST00000371953
|
Expression
for PTEN gene
(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 223 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,
Primers from
OriGene and/or
SABiosciences
)
About This Section
User Feedback | PTEN expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for PTEN
1 / 2 / 3 28 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 |
| 31675_s_at2, 3
|
U95-A |
3 |
1.00 |
0.69 |
0.67 |
0.99 |
AF019083 |
0.40 |
0.25 |
0.33 |
2 |
| 39552_at2, 3
|
U95-A |
2 |
0.94 |
0.80 |
0.80 |
0.67 |
U92436 |
1.00 |
0.90 |
0.95 |
1 |
| 1434_at2, 3
|
U95-A |
2 |
0.88 |
0.93 |
0.71 |
0.70 |
U92436 |
1.00 |
0.90 |
0.95 |
1 |
| 58901_at2, 3
|
U95-C |
1 |
0.81 |
1.00 |
0.82 |
1.84 |
AW021543 |
0.60 |
1.00 |
0.82 |
1 |
| 64073_at2, 3
|
U95-C |
1 |
0.44 |
1.00 |
0.52 |
0.57 |
W73720 |
0.40 |
1.00 |
0.76 |
1 |
| 56027_at2, 3
|
U95-B |
1 |
0.38 |
1.00 |
0.83 |
1.16 |
AA603466 |
0.20 |
1.00 |
0.72 |
1 |
| 90129_at2, 3
|
U95-D |
1 |
0.31 |
1.00 |
0.68 |
1.12 |
AA418995 |
0.20 |
1.00 |
0.72 |
1 |
| 54292_at*2, 3
|
U95-C |
1 |
-- |
-- |
-0.32 |
0.23 |
T86737 |
0.20 |
1.00 |
0.72 |
1 |
| 211711_s_at2, 3
|
U133-A |
3 |
1.00 |
0.68 |
-- |
-- |
BC005821 |
0.80 |
1.00 |
0.91 |
1 |
| 204053_x_at2, 3
|
U133-A |
3 |
1.00 |
0.64 |
-- |
-- |
U96180 |
0.80 |
1.00 |
0.91 |
1 |
| 217492_s_at2, 3
|
U133-A |
3 |
1.00 |
0.59 |
-- |
-- |
AF023139 |
0.20 |
0.25 |
0.23 |
2 |
| 225363_at2, 3
|
U133-B |
1 |
0.91 |
1.00 |
-- |
-- |
AK024986 |
0.40 |
1.00 |
0.76 |
1 |
| 204054_at2, 3
|
U133-A |
2 |
0.73 |
0.88 |
-- |
-- |
NM_000314 |
0.60 |
1.00 |
0.82 |
1 |
| 228006_at2, 3
|
U133-B |
1 |
0.64 |
1.00 |
-- |
-- |
BG403361 |
0.20 |
1.00 |
0.72 |
1 |
| 233314_at2, 3
|
U133-B |
1 |
0.46 |
1.00 |
-- |
-- |
AK021487 |
0.40 |
1.00 |
0.76 |
1 |
| 233254_x_at2, 3
|
U133-B |
1 |
0.46 |
1.00 |
-- |
-- |
AU144828 |
0.60 |
1.00 |
0.82 |
1 |
| 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 |
| 211711_s_at2
|
U133Plus2 |
3 |
1.00 |
0.68 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 204053_x_at2
|
U133Plus2 |
3 |
1.00 |
0.64 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 217492_s_at2
|
U133Plus2 |
3 |
1.00 |
0.59 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 225363_at2
|
U133Plus2 |
1 |
0.91 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 204054_at2
|
U133Plus2 |
2 |
0.73 |
0.88 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 228006_at2
|
U133Plus2 |
1 |
0.64 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 233314_at2
|
U133Plus2 |
1 |
0.46 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 233254_x_at2
|
U133Plus2 |
1 |
0.46 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 222176_at*2
|
U133Plus2 |
NULL |
0.00 |
0.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 242622_x_at*2
|
U133Plus2 |
NULL |
0.00 |
0.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
PTEN for expression About GeneDecksing
Data from
Genenote
(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, P60484Tissue specificity: Expressed at a relatively high level in all adult tissues, including heart, brain, placenta, lung,liver, muscle, kidney and pancreas
| Primers: | | Origene genome-wide validated SYBR primer pairs: PTEN
| | | SABiosciences RT2 qPCR Primer Assay for PTEN: PPH00327A |
|
Orthologs
for PTEN gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI May 08 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
User Feedback |
Orthologs for PTEN gene from 5/15 species (see all 15
)
About this table Species with no ortholog for PTEN
ENSEMBL Gene Tree for PTEN | Paralogs
for PTEN gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
User Feedback | Paralogs for PTEN gene
- DNAJC62 TNS12 TPTE2 TNS32 TNS42 TENC12 GAK2 TPTE22
PTEN for paralogs About GeneDecksing
|
Genomic Variants
for PTEN gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants,
Genotyping Reagents from
Applied Biosystems)
About This Section
User Feedback |
HapMap Linkage Disequilibrium images for PTEN (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for PTEN
1 CNV: 101003
1 Indel: 65753 |
Disorders & Mutations
for PTEN gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
User Feedback |
PTEN for disorders About GeneDecksing
OMIM: 601728UniProtKB/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 anautosomal dominant cancer predisposition syndrome associated with elevated risk for tumors of the breast, thyroid andskin. 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 increasedrisk of both breast and thyroid cancers. Trichilemmomas (benign tumors of the hair follicle infundibulum), andmucocutaneous papillomatosis (99%) are hallmarks of CD Defects in PTEN are the cause of Lhermitte-Duclos disease (LDD) [MIM:158350]; also known ascerebelloparenchymal disorder VI. LDD is characterized by dysplastic gangliocytoma of the cerebellum which oftenresults in cerebellar signs and seizures. LDD and CD seem to be the same entity, and are considered ashamartoma-neoplasia syndromes Defects in PTEN are a cause of Bannayan-Zonana syndrome (BZS) [MIM:153480]; also known asRuvalcaba-Myhre-Smith syndrome (RMSS) or Bannayan-Riley-Ruvalcaba syndrome (BRRS). In BZS there seems not to be anincreased risk of malignancy. It has a partial clinical overlap with CD. BZS is characterized by the classic triad ofmacrocephaly, 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 assquamous cell carcinoma of the head and neck 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 disordercharacterized 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 isnamed after the Greek god Proteus who, legend has it, could change his shape at will to avoid capture. Tumors, mostlybenign but some malignant, have also been reported in Proteus syndrome, generally presenting by the age of 20 yearsand 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 familialglioma of brain. Oligodendroglioma is a usually benign neoplasm derived from and composed of oligodendrogliocytes invarying 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 VATERassociation with hydrocephalus. VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiacdisease, 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 spectrumdisorders and macrocephaly, with head circumferences ranging from +2.5 to +8 SD for age and sex (average headcircumference +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
10/729 Novoseek disease relationships for PTEN gene (see all 729
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| endometrial cancer |
100.00 |
344 |
19224164 (8), 20079181 (6), 12790783 (6), 12001116 (6) (see all 100) |
| glioblastoma |
100.00 |
252 |
9426052 (8), 19190120 (6), 12904991 (6), 9619835 (5) (see all 100) |
| cowden syndrome |
100.00 |
356 |
18460397 (8), 10400993 (7), 9832031 (6), 18678321 (6) (see all 100) |
| bannayan-riley-ruvalcaba syndrome |
100.00 |
130 |
10400993 (8), 12844284 (7), 14574156 (6), 12372056 (5) (see all 72) |
| microsatellite instability |
100.00 |
142 |
12163369 (7), 17219201 (6), 16506206 (6), 12370746 (6) (see all 69) |
| germline mutation |
100.00 |
159 |
12372056 (5), 12085208 (5), 11476841 (4), 10807691 (4) (see all 100) |
| glioma |
98.31 |
219 |
17098662 (7), 17000554 (6), 16773187 (6), 10541240 (6) (see all 100) |
| prostate cancer |
84.20 |
351 |
11234884 (7), 12684422 (6), 19407851 (5), 18500259 (5) (see all 100) |
| pten hamartoma tumor syndrome |
65.49 |
26 |
19668082 (4), 18986487 (3), 18781191 (2), 17941496 (2) (see all 18) |
| disease, lhermitte-duclos |
57.33 |
36 |
14566704 (6), 15835270 (5), 10051160 (3), 9697695 (2) (see all 22) |
About this table
2 PharmGKB disease relationships for PTEN geneAbout this table
GeneTests: PTEN
PTEN Hamartoma Tumor Syndrome (PHTS)
Human Gene Mutation Database: PTEN
Genetic Association Database: PTEN
Human Genome Epidemiology Navigator: PTEN (88 documents)
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Medical News
for PTEN gene(Possibly Related Articles in
Doctor's Guide)
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Publications
for PTEN gene (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
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User Feedback | 10/2147 PubMed articles for PTEN gene (see all 2147
):- Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. (PubMed id 15805158)1, 3, 4, 6 Butler M.G....Eng C. (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, 4 Steck P.A.... Tavtigian S.V. (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)3, 4, 6 Tsou H.C.... Peacocke M. (1997)
- Phosphorylation of the PTEN tail acts as an inhibitory switch by preventing its recruitment into a protein complex. (PubMed id 11707428)1, 3, 4 Vazquez F....Sellers W.R. (2001)
- Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases. (PubMed id 15951562)1, 3, 4 Valiente M.... Pulido R. (2005)
- Evaluation of germline PTEN mutations in endometrial cancer patients. (PubMed id 15589575)1, 3, 6 Black D....Boyd J. (2005)
- TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta. (PubMed id 9187108)1, 3, 4 Li D.M. and Sun H. (1997)
- NEDD4-1 is a proto-oncogenic ubiquitin ligase for PTEN. (PubMed id 17218260)1, 3, 4 Wang X....Jiang X. (2007)
- PTEN gene mutation and high MIB-1 labeling index may contribute to dissemination in patients with glioblastoma. (PubMed id 14642363)1, 3, 6 Kato H....Yoshimoto T. (2004)
- PTEN mutation, EGFR amplification, and outcome in patients with anaplastic astrocytoma and glioblastoma multiforme. (PubMed id 11504770)1, 3, 6 Smith J.S....Jenkins R.B. (2001)
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Genome Databases showing PTEN gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
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and/or
H-InvDB)
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| Other Databases showing PTEN gene
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Specialized Databases showing PTEN gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| ATLAS Chromosomes in Cancer entry for PTEN | Genetics 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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User Feedback | Patent Information for PTEN gene:
Search GeneIP for patents involving PTEN
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
| Services
for PTEN gene(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Novus Biologicals,
Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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