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Aliases for PTEN Gene

Aliases for PTEN Gene

  • Phosphatase And Tensin Homolog 2 3 4 5
  • Mutated In Multiple Advanced Cancers 1 2 3 4
  • MMAC1 3 4
  • TEP1 3 4
  • Phosphatidylinositol-3,4,5-Trisphosphate 3-Phosphatase And Dual-Specificity Protein Phosphatase PTEN 3
  • MMAC1 Phosphatase And Tensin Homolog Deleted On Chromosome 10 3
  • Mitochondrial Phosphatase And Tensin Protein Alpha 3
  • Phosphatase And Tensin-Like Protein 3
  • Mitochondrial PTENalpha 3
  • EC 3.1.3.16 4
  • EC 3.1.3.48 4
  • EC 3.1.3.67 4
  • 10q23del 3
  • PTEN1 3
  • CWS1 3
  • GLM2 3
  • MHAM 3
  • DEC 3
  • BZS 3

External Ids for PTEN Gene

Previous HGNC Symbols for PTEN Gene

  • BZS
  • MHAM

Previous GeneCards Identifiers for PTEN Gene

  • GC10P088504
  • GC10P088844
  • GC10P089754
  • GC10P089287
  • GC10P089613
  • GC10P083258

Summaries for PTEN Gene

Entrez Gene Summary for PTEN Gene

  • This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]

GeneCards Summary for PTEN Gene

PTEN (Phosphatase And Tensin Homolog) is a Protein Coding gene. Diseases associated with PTEN include bannayan-riley-ruvalcaba syndrome and squamous cell carcinoma, head and neck. Among its related pathways are Central carbon metabolism in cancer and Endometrial cancer. GO annotations related to this gene include protein kinase binding and magnesium ion binding. An important paralog of this gene is TNS1.

UniProtKB/Swiss-Prot for PTEN Gene

  • Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5-tetrakisphosphate with order of substrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4. The lipid phosphatase activity is critical for its tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival. The unphosphorylated form cooperates with AIP1 to suppress AKT1 activation. Dephosphorylates tyrosine-phosphorylated focal adhesion kinase and inhibits cell migration and integrin-mediated cell spreading and focal adhesion formation. Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. May be a negative regulator of insulin signaling and glucose metabolism in adipose tissue. The nuclear monoubiquitinated form possesses greater apoptotic potential, whereas the cytoplasmic nonubiquitinated form induces less tumor suppressive ability. In motile cells, suppresses the formation of lateral pseudopods and thereby promotes cell polarization and directed movement.

  • Isoform alpha: Functional kinase, like isoform 1 it antagonizes the PI3K-AKT/PKB signaling pathway. Plays a role in mitochondrial energetic metabolism by promoting COX activity and ATP production, via collaboration with isoform 1 in increasing protein levels of PINK1.

Gene Wiki entry for PTEN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTEN Gene

Genomics for PTEN Gene

Regulatory Elements for PTEN Gene

Enhancers for PTEN Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PTEN on UCSC Golden Path with GeneCards custom track

Genomic Location for PTEN Gene

Chromosome:
10
Start:
87,863,113 bp from pter
End:
87,971,930 bp from pter
Size:
108,818 bases
Orientation:
Plus strand

Genomic View for PTEN Gene

Genes around PTEN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTEN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTEN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTEN Gene

Proteins for PTEN Gene

  • Protein details for PTEN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60484-PTEN_HUMAN
    Recommended name:
    Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
    Protein Accession:
    P60484
    Secondary Accessions:
    • B2R904
    • F2YHV0
    • O00633
    • O02679
    • Q6ICT7

    Protein attributes for PTEN Gene

    Size:
    403 amino acids
    Molecular mass:
    47166 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer. The unphosphorylated form interacts with the second PDZ domain of AIP1 and with DLG1 and MAST2 in vitro. Interacts with MAGI2, MAGI3, MAST1 and MAST3, but neither with MAST4 nor with DLG5; interaction with MAGI2 increases protein stability. Interacts with NEDD4. Interacts with NDFIP1 and NDFIP2; in the presence of NEDD4 or ITCH, this interaction promotes PTEN ubiquitination. Interacts (via C2 domain) with FRK. Interacts with USP7; the interaction is direct. Interacts with ROCK1 (By similarity). Interacts with XIAP/BIRC4. Interacts with STK11; the interaction phosphorylates PTEN.

    Three dimensional structures from OCA and Proteopedia for PTEN Gene

    Alternative splice isoforms for PTEN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTEN Gene

Proteomics data for PTEN Gene at MOPED

Post-translational modifications for PTEN Gene

  • Constitutively phosphorylated by CK2 under normal conditions. Phosphorylated in vitro by MAST1, MAST2, MAST3 and STK11. Phosphorylation results in an inhibited activity towards PIP3. Phosphorylation can both inhibit or promote PDZ-binding. Phosphorylation at Tyr-336 by FRK/PTK5 protects this protein from ubiquitin-mediated degradation probably by inhibiting its binding to NEDD4. Phosphorylation by ROCK1 is essential for its stability and activity. Phosphorylation by PLK3 promotes its stability and prevents its degradation by the proteasome.
  • Monoubiquitinated; monoubiquitination is increased in presence of retinoic acid. Deubiquitinated by USP7; leading to its nuclear exclusion. Monoubiquitination of one of either Lys-13 and Lys-289 amino acid is sufficient to modulate PTEN compartmentalization. Ubiquitinated by XIAP/BIRC4.
  • Ubiquitination at Lys 13, Lys 80, and Lys 289
  • Modification sites at PhosphoSitePlus

Other Protein References for PTEN Gene

No data available for DME Specific Peptides for PTEN Gene

Domains & Families for PTEN Gene

Suggested Antigen Peptide Sequences for PTEN Gene

Graphical View of Domain Structure for InterPro Entry

P60484

UniProtKB/Swiss-Prot:

PTEN_HUMAN :
  • The C2 domain binds phospholipid membranes in vitro in a Ca(2+)-independent manner; this binding is important for its tumor suppressor function.
Domain:
  • The C2 domain binds phospholipid membranes in vitro in a Ca(2+)-independent manner; this binding is important for its tumor suppressor function.
  • Contains 1 C2 tensin-type domain.
  • Contains 1 phosphatase tensin-type domain.
genes like me logo Genes that share domains with PTEN: view

Function for PTEN Gene

Molecular function for PTEN Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
Phosphatidylinositol 3,4,5-trisphosphate + H(2)O = phosphatidylinositol 4,5-bisphosphate + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function:
Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5-tetrakisphosphate with order of substrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4. The lipid phosphatase activity is critical for its tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival. The unphosphorylated form cooperates with AIP1 to suppress AKT1 activation. Dephosphorylates tyrosine-phosphorylated focal adhesion kinase and inhibits cell migration and integrin-mediated cell spreading and focal adhesion formation. Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. May be a negative regulator of insulin signaling and glucose metabolism in adipose tissue. The nuclear monoubiquitinated form possesses greater apoptotic potential, whereas the cytoplasmic nonubiquitinated form induces less tumor suppressive ability. In motile cells, suppresses the formation of lateral pseudopods and thereby promotes cell polarization and directed movement.
UniProtKB/Swiss-Prot Function:
Isoform alpha: Functional kinase, like isoform 1 it antagonizes the PI3K-AKT/PKB signaling pathway. Plays a role in mitochondrial energetic metabolism by promoting COX activity and ATP production, via collaboration with isoform 1 in increasing protein levels of PINK1.
UniProtKB/Swiss-Prot Induction:
Down-regulated by TGFB1.

Enzyme Numbers (IUBMB) for PTEN Gene

Gene Ontology (GO) - Molecular Function for PTEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004722 protein serine/threonine phosphatase activity IDA 9256433
GO:0005161 platelet-derived growth factor receptor binding IEA --
GO:0005515 protein binding IEA,IPI 15951562
GO:0010997 anaphase-promoting complex binding IPI 21241890
genes like me logo Genes that share ontologies with PTEN: view

Phenotypes for PTEN Gene

genes like me logo Genes that share phenotypes with PTEN: view

Human Phenotype Ontology for PTEN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTEN Gene

MGI Knock Outs for PTEN:

Animal Model Products

  • Taconic Biosciences Mouse Models for PTEN

miRNA for PTEN Gene

miRTarBase miRNAs that target PTEN

No data available for Transcription Factor Targets and HOMER Transcription for PTEN Gene

Localization for PTEN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTEN Gene

Cytoplasm. Nucleus. Nucleus, PML body. Note=Monoubiquitinated form is nuclear. Nonubiquitinated form is cytoplasmic. Colocalized with PML and USP7 in PML nuclear bodies. XIAP/BIRC4 promotes its nuclear localization.
Isoform alpha: Secreted. Note=May be secreted via a classical signal peptide and reenter into cells with the help of a poly-Arg motif.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PTEN Gene COMPARTMENTS Subcellular localization image for PTEN gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
extracellular 4
mitochondrion 4
cytoskeleton 2
vacuole 2
endoplasmic reticulum 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PTEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0009898 cytoplasmic side of plasma membrane IDA 10940933
GO:0016605 PML body IEA --
GO:0035749 myelin sheath adaxonal region IEA,ISS --
genes like me logo Genes that share ontologies with PTEN: view

Pathways & Interactions for PTEN Gene

SuperPathways for PTEN Gene

genes like me logo Genes that share pathways with PTEN: view

SIGNOR curated interactions for PTEN Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for PTEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IEA,ISS --
GO:0002902 regulation of B cell apoptotic process IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006470 protein dephosphorylation IEA,TAS 9367992
GO:0006644 phospholipid metabolic process TAS --
genes like me logo Genes that share ontologies with PTEN: view

Drugs & Compounds for PTEN Gene

(93) Drugs for PTEN Gene - From: PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cetuximab Approved Pharma Antibody, Biomarker, inhibitor EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 717
Everolimus Approved Pharma inhibitor, Biomarker mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1835
Erlotinib Approved, Investigational Pharma Inhibition, inhibitor, Biomarker EGFR inhibitor, EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 0
Estradiol Approved, Investigational Pharma Sex hormone 1235
Gefitinib Approved, Investigational Pharma Biomarker, inhibitor EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 339

(424) Additional Compounds for PTEN Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphate
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
PI(16:0/16:0)
  • 1,2-Dihexadecanoyl-rac-glycero-3-phospho-(1'-myo-inositol)
  • 1,2-Dipalmitoyl-rac-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:0)
  • Phosphatidylinositol(32:0)
  • PI(16:0/16:0)

(1) ApexBio Compounds for PTEN Gene

Compound Action Cas Number
SF1670 345630-40-2
genes like me logo Genes that share compounds with PTEN: view

Transcripts for PTEN Gene

Unigene Clusters for PTEN Gene

Phosphatase and tensin homolog:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PTEN Gene

No ASD Table

Relevant External Links for PTEN Gene

GeneLoc Exon Structure for
PTEN
ECgene alternative splicing isoforms for
PTEN

Expression for PTEN Gene

mRNA expression in normal human tissues for PTEN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTEN Gene

This gene is overexpressed in Whole Blood (x5.0).

Protein differential expression in normal tissues from HIPED for PTEN Gene

This gene is overexpressed in Adrenal (17.6), Peripheral blood mononuclear cells (7.3), and Fetal Brain (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PTEN Gene



SOURCE GeneReport for Unigene cluster for PTEN Gene Hs.500466

mRNA Expression by UniProt/SwissProt for PTEN Gene

P60484-PTEN_HUMAN
Tissue specificity: Expressed at a relatively high level in all adult tissues, including heart, brain, placenta, lung, liver, muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with PTEN: view

Protein tissue co-expression partners for PTEN Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PTEN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PTEN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PTEN 35
  • 98.1 (n)
  • 99.75 (a)
PTEN 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTEN 35
  • 96.69 (n)
  • 100 (a)
PTEN 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pten 35
  • 96.2 (n)
  • 99.75 (a)
Pten 16
Pten 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PTEN 35
  • 99.83 (n)
  • 100 (a)
PTEN 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pten 35
  • 95.53 (n)
  • 99.5 (a)
oppossum
(Monodelphis domestica)
Mammalia PTEN 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves PTEN 35
  • 91.29 (n)
  • 95.52 (a)
PTEN 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTEN 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pten 35
  • 82.38 (n)
  • 89.78 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.561 35
zebrafish
(Danio rerio)
Actinopterygii pten 35
ptenb 35
  • 79.2 (n)
  • 86.97 (a)
ptena 36
  • 76 (a)
OneToMany
ptenb 36
  • 83 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12284 35
fruit fly
(Drosophila melanogaster)
Insecta Pten 37
  • 44 (a)
Pten 35
  • 54.6 (n)
  • 50.16 (a)
Pten 36
  • 33 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009628 35
  • 53.07 (n)
  • 50.5 (a)
worm
(Caenorhabditis elegans)
Secernentea daf-18 37
  • 43 (a)
daf-18 36
  • 15 (a)
OneToOne
barley
(Hordeum vulgare)
Liliopsida Hv.1456 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3243 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
OneToOne
Species with no ortholog for PTEN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTEN Gene

ENSEMBL:
Gene Tree for PTEN (if available)
TreeFam:
Gene Tree for PTEN (if available)

Paralogs for PTEN Gene

Paralogs for PTEN Gene

(8) SIMAP similar genes for PTEN Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PTEN: view

Variants for PTEN Gene

Sequence variations from dbSNP and Humsavar for PTEN Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_007457 Glioma
VAR_007458 Glioma
VAR_007459 Glioma
VAR_007460 Glioma
VAR_007461 Cowden syndrome 1 (CWS1)

Structural Variations from Database of Genomic Variants (DGV) for PTEN Gene

Variant ID Type Subtype PubMed ID
esv275087 CNV Gain+Loss 21479260
nsv820703 CNV Deletion 20802225
esv2678342 CNV Deletion 23128226
esv25064 CNV Gain 19812545
esv2530664 CNV Deletion 19546169

Variation tolerance for PTEN Gene

Residual Variation Intolerance Score: 39.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 2.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTEN Gene

HapMap Linkage Disequilibrium report
PTEN
Human Gene Mutation Database (HGMD)
PTEN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTEN Gene

Disorders for PTEN Gene

MalaCards: The human disease database

(119) MalaCards diseases for PTEN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bannayan-riley-ruvalcaba syndrome
  • bannayan-zonana syndrome
squamous cell carcinoma, head and neck
  • squamous cell carcinoma, head and neck, somatic
macrocephaly/autism syndrome
  • autism with macrocephaly
endometrial cancer
  • endometrial cancer, familial
cowden syndrome 1
  • lhermitte-duclos syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PTEN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTEN_HUMAN
  • Bannayan-Riley-Ruvalcaba syndrome (BRRS) [MIM:153480]: A rare hamartomatous disorder characterized by macrocephaly and multiple hemangiomas as well as subcutaneous and visceral lipomas. It belongs to the family of hamartomatous polyposis syndromes that includes Peutz Jeghers syndrome, juvenile polyposis, and Cowden syndrome. {ECO:0000269 PubMed:10400993, ECO:0000269 PubMed:11494117, ECO:0000269 PubMed:9241266, ECO:0000269 PubMed:9467011}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cowden syndrome 1 (CWS1) [MIM:158350]: An autosomal dominant hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. {ECO:0000269 PubMed:10051160, ECO:0000269 PubMed:10234502, ECO:0000269 PubMed:11494117, ECO:0000269 PubMed:9140396, ECO:0000269 PubMed:9259288, ECO:0000269 PubMed:9345101, ECO:0000269 PubMed:9399897, ECO:0000269 PubMed:9425889, ECO:0000269 PubMed:9600246, ECO:0000269 PubMed:9735393, ECO:0000269 PubMed:9797362, ECO:0000269 PubMed:9832031, ECO:0000269 PubMed:9915974}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Endometrial cancer (ENDMC) [MIM:608089]: A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Glioma 2 (GLM2) [MIM:613028]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Lhermitte-Duclos disease (LDD) [MIM:158350]: A rare disease characterized by the occurrence of a slowly enlarging mass within the cerebellar cortex corresponding histologically to a cerebellar hamartoma. It manifests, most commonly in the third and fourth decades of life, with increased intracranial pressure, headache, nausea, cerebellar dysfunction, occlusive hydrocephalus, ataxia, visual disturbances and other cranial nerve palsies. Various associated abnormalities may be present such as megalencephaly, microgyria, hydromyelia, polydactyly, partial gigantism, macroglossia. LDD is part of the PTEN hamartoma tumor syndromes spectrum that also includes Cowden syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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). {ECO:0000269 PubMed:15805158}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.
  • 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.
  • Prostate cancer (PC) [MIM:176807]: 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. {ECO:0000269 PubMed:9072974}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]: A non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes. {ECO:0000269 PubMed:11801303}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PTEN

Genetic Association Database (GAD)
PTEN
Human Genome Epidemiology (HuGE) Navigator
PTEN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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genes like me logo Genes that share disorders with PTEN: view

No data available for Genatlas for PTEN Gene

Publications for PTEN Gene

  1. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. (PMID: 9090379) Steck P.A. … Tavtigian S.V. (Nat. Genet. 1997) 2 3 4 67
  2. Identification of novel PTEN-binding partners: PTEN interaction with fatty acid binding protein FABP4. (PMID: 19911253) Gorbenko O. … Filonenko V. (Mol. Cell. Biochem. 2010) 3 23
  3. Suppression of cellular proliferation and invasion by the concerted lipid and protein phosphatase activities of PTEN. (PMID: 19915616) Davidson L. … Leslie N.R. (Oncogene 2010) 3 23
  4. PTEN status in advanced colorectal cancer treated with cetuximab. (PMID: 19953097) Negri F.V. … Ardizzoni A. (Br. J. Cancer 2010) 3 23
  5. MicroRNA-21 inhibitor sensitizes human glioblastoma cells U251 (PTEN-mutant) and LN229 (PTEN-wild type) to taxol. (PMID: 20113523) Ren Y. … Kang C.S. (BMC Cancer 2010) 3 23

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