| Note | |
| | |
| Entity | Cowden disease and Bannayan, Riley, Ruvalcaba phenotype |
| Disease | Cowden disease is also known as multiple hamartoma syndrome, a cancer prone condition with autosomal dominant pattern of inheritance and high susceptibility to breast carcinoma and in a less extent to thyroid carcinoma; Bannayan, Ryley, Ruvalcaba syndrome correspond to the pediatric contrepart of Cowden disease with phenotypic overlap between the 2 syndromes (macrocephaly, intestinal polyps, lipomas, genital pigmented macules) |
| | |
| | |
| Entity | sporadic malignant tumors |
| Disease | somatic mutations were observed mainly in glioblastoma and in endometrial carcinoma, about 30% of these two kinds of tumors showing point mutations; only a few mutations were reported in prostate carcinoma, malignant melanoma, non Hodgkin lymphomas, breast carcinoma |
| | |
| PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. |
| Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, Puc J, Miliaresis C, Rodgers L, McCombie R, Bigner SH, Giovanella BC, Ittmann M, Tycko B, Hibshoosh H, Wigler MH, Parsons R |
| Science (New York, N.Y.). 1997 ; 275 (5308) : 1943-1947. |
| PMID 9072974 |
| |
| The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate. |
| Maehama T, Dixon JE |
| The Journal of biological chemistry. 1998 ; 273 (22) : 13375-13378. |
| PMID 9593664 |
| |
| Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. |
| Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C |
| Human molecular genetics. 1998 ; 7 (3) : 507-515. |
| PMID 9467011 |
| |
| PTEN: sometimes taking it off can be better than putting it on. |
| Myers MP, Tonks NK |
| American journal of human genetics. 1997 ; 61 (6) : 1234-1238. |
| PMID 9399917 |
| |
| Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. |
| Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DH, Tavtigian SV |
| Nature genetics. 1997 ; 15 (4) : 356-362. |
| PMID 9090379 |
| |
| Nomenclature |
| HGNC (Hugo) | PTEN 9588 |
| LRG (Locus Reference Genomic) | LRG_311 |
| Cards |
| Atlas | PTENID158 |
| Entrez_Gene (NCBI) | PTEN 5728 phosphatase and tensin homolog |
| Aliases | 10q23del; BZS; CWS1; DEC; |
| GLM2; MHAM; MMAC1; PTEN1; PTENbeta; TEP1 |
| GeneCards (Weizmann) | PTEN |
| Ensembl hg19 (Hinxton) | ENSG00000171862 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000171862 [Gene_View] chr10:87863438-87971930 [Contig_View] PTEN [Vega] |
| ICGC DataPortal | ENSG00000171862 |
| TCGA cBioPortal | PTEN |
| AceView (NCBI) | PTEN |
| Genatlas (Paris) | PTEN |
| WikiGenes | 5728 |
| SOURCE (Princeton) | PTEN |
| Genetics Home Reference (NIH) | PTEN |
| Genomic and cartography |
| GoldenPath hg38 (UCSC) | PTEN - chr10:87863438-87971930 + 10q23.31 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | PTEN - 10q23.31 [Description] (hg19-Feb_2009) |
| Ensembl | PTEN - 10q23.31 [CytoView hg19] PTEN - 10q23.31 [CytoView hg38] |
| Mapping of homologs : NCBI | PTEN [Mapview hg19] PTEN [Mapview hg38] |
| OMIM | 153480 155600 158350 176807 188470 275355 276950 601728 601728 605309 607174 608089 613028 |
| Gene and transcription |
| Genbank (Entrez) | AA017584 AA836562 AI825848 AK021619 AK024986 |
| RefSeq transcript (Entrez) | NM_000314 NM_001304717 NM_001304718 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | PTEN |
| Cluster EST : Unigene | Hs.729457 [ NCBI ] |
| CGAP (NCI) | Hs.729457 |
| Alternative Splicing Gallery | ENSG00000171862 |
| Gene Expression | PTEN [ NCBI-GEO ] PTEN [ EBI - ARRAY_EXPRESS ]
PTEN [ SEEK ] PTEN [ MEM ] |
| Gene Expression Viewer (FireBrowse) | PTEN [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60] |
| Genevisible | Expression in : [tissues]  [cell-lines]  [cancer]  [perturbations]   |
| BioGPS (Tissue expression) | 5728 |
| GTEX Portal (Tissue expression) | PTEN |
| Protein : pattern, domain, 3D structure |
| UniProt/SwissProt | P60484 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P60484 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P60484 |
| Splice isoforms : SwissVar | P60484 |
| Catalytic activity : Enzyme | 3.1.3.16 [ Enzyme-Expasy ] 3.1.3.163.1.3.16 [ IntEnz-EBI ] 3.1.3.16 [ BRENDA ] 3.1.3.16 [ KEGG ] |
| PhosPhoSitePlus | P60484 |
| Domaine pattern : Prosite (Expaxy) | C2_TENSIN (PS51182) PPASE_TENSIN (PS51181) |
| Domains : Interpro (EBI) | Bifunc_PIno_P3_Pase/Pase_PTEN C2_dom Dual-sp_phosphatase_cat-dom Prot-tyrosine_phosphatase-like Tensin_C2-dom Tensin_lipid_phosphatase_dom Tyr_Pase_AS Tyr_Pase_cat |
| Domain families : Pfam (Sanger) | DSPc (PF00782) PTEN_C2 (PF10409) |
| Domain families : Pfam (NCBI) | pfam00782 pfam10409 |
| Domain families : Smart (EMBL) | PTEN_C2 (SM01326) PTPc_motif (SM00404) |
| Conserved Domain (NCBI) | PTEN |
| DMDM Disease mutations | 5728 |
| Blocks (Seattle) | PTEN |
| PDB (SRS) | 1D5R 2KYL 4O1V 5BUG 5BZX 5BZZ |
| PDB (PDBSum) | 1D5R 2KYL 4O1V 5BUG 5BZX 5BZZ |
| PDB (IMB) | 1D5R 2KYL 4O1V 5BUG 5BZX 5BZZ |
| PDB (RSDB) | 1D5R 2KYL 4O1V 5BUG 5BZX 5BZZ |
| Structural Biology KnowledgeBase | 1D5R 2KYL 4O1V 5BUG 5BZX 5BZZ |
| SCOP (Structural Classification of Proteins) | 1D5R 2KYL 4O1V 5BUG 5BZX 5BZZ |
| CATH (Classification of proteins structures) | 1D5R 2KYL 4O1V 5BUG 5BZX 5BZZ |
| Superfamily | P60484 |
| Human Protein Atlas | ENSG00000171862 |
| Peptide Atlas | P60484 |
| HPRD | 03431 |
| Protein Interaction databases |
| DIP (DOE-UCLA) | P60484 |
| IntAct (EBI) | P60484 |
| FunCoup | ENSG00000171862 |
| BioGRID | PTEN |
| STRING (EMBL) | PTEN |
| ZODIAC | PTEN |
| Ontologies - Pathways |
| QuickGO | P60484 |
| Ontology : AmiGO | regulation of cyclin-dependent protein serine/threonine kinase activity magnesium ion binding angiogenesis negative regulation of protein phosphorylation negative regulation of protein phosphorylation regulation of B cell apoptotic process phosphatidylinositol-3-phosphatase activity phosphoprotein phosphatase activity protein serine/threonine phosphatase activity protein tyrosine phosphatase activity platelet-derived growth factor receptor binding protein binding extracellular region nucleus nucleoplasm nucleoplasm cytoplasm cytoplasm mitochondrion cytosol cytosol plasma membrane protein dephosphorylation protein dephosphorylation phosphatidylinositol biosynthetic process apoptotic process neuron-neuron synaptic transmission synapse assembly central nervous system development heart development aging response to nutrient learning or memory memory locomotory behavior protein tyrosine/serine/threonine phosphatase activity cell proliferation positive regulation of cell proliferation negative regulation of cell proliferation negative regulation of cell proliferation lipid binding response to glucose cytoplasmic side of plasma membrane response to zinc ion negative regulation of epithelial to mesenchymal transition regulation of neuron projection development anaphase-promoting complex binding negative regulation of phosphatidylinositol 3-kinase signaling negative regulation of phosphatidylinositol 3-kinase signaling phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity apical plasma membrane cell migration protein deubiquitination PML body enzyme binding protein kinase binding dentate gyrus development central nervous system neuron axonogenesis PDZ domain binding negative regulation of cell migration adult behavior negative regulation of myelination regulation of protein stability negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle regulation of synaptic transmission, GABAergic central nervous system myelin maintenance response to estradiol regulation of cellular component size regulation of myeloid cell apoptotic process response to ATP multicellular organismal response to stress social behavior peptidyl-tyrosine dephosphorylation myelin sheath adaxonal region response to drug maternal behavior identical protein binding cell projection neuron projection negative regulation of apoptotic process dendritic spine Schmidt-Lanterman incisure protein kinase B signaling endothelial cell migration inositol phosphate metabolic process postsynaptic membrane response to ethanol locomotor rhythm negative regulation of cell size negative regulation of organ growth response to arsenic-containing substance inositol phosphate dephosphorylation phosphatidylinositol dephosphorylation phosphatidylinositol dephosphorylation platelet-derived growth factor receptor signaling pathway phosphatidylinositol-mediated signaling negative regulation of axon regeneration cardiac muscle tissue development forebrain morphogenesis brain morphogenesis negative regulation of epithelial cell proliferation negative regulation of phagocytosis negative regulation of axonogenesis protein stabilization T cell receptor signaling pathway positive regulation of sequence-specific DNA binding transcription factor activity negative regulation of keratinocyte migration inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity negative regulation of focal adhesion assembly negative regulation of protein kinase B signaling rhythmic synaptic transmission negative regulation of cardiac muscle cell proliferation canonical Wnt signaling pathway synapse maturation prepulse inhibition male mating behavior long-term synaptic potentiation long term synaptic depression prostate gland growth dendritic spine morphogenesis negative regulation of dendritic spine morphogenesis negative regulation of ERK1 and ERK2 cascade positive regulation of ERK1 and ERK2 cascade cellular response to electrical stimulus cellular response to hypoxia negative regulation of ribosome biogenesis negative regulation of cell aging negative regulation of excitatory postsynaptic potential presynaptic membrane assembly postsynaptic density assembly negative regulation of wound healing, spreading of epidermal cells positive regulation of TRAIL-activated apoptotic signaling pathway positive regulation of ubiquitin protein ligase activity ubiquitin-specific protease binding positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process negative regulation of G1/S transition of mitotic cell cycle positive regulation of excitatory postsynaptic potential negative regulation of synaptic vesicle clustering |
| Ontology : EGO-EBI | regulation of cyclin-dependent protein serine/threonine kinase activity magnesium ion binding angiogenesis negative regulation of protein phosphorylation negative regulation of protein phosphorylation regulation of B cell apoptotic process phosphatidylinositol-3-phosphatase activity phosphoprotein phosphatase activity protein serine/threonine phosphatase activity protein tyrosine phosphatase activity platelet-derived growth factor receptor binding protein binding extracellular region nucleus nucleoplasm nucleoplasm cytoplasm cytoplasm mitochondrion cytosol cytosol plasma membrane protein dephosphorylation protein dephosphorylation phosphatidylinositol biosynthetic process apoptotic process neuron-neuron synaptic transmission synapse assembly central nervous system development heart development aging response to nutrient learning or memory memory locomotory behavior protein tyrosine/serine/threonine phosphatase activity cell proliferation positive regulation of cell proliferation negative regulation of cell proliferation negative regulation of cell proliferation lipid binding response to glucose cytoplasmic side of plasma membrane response to zinc ion negative regulation of epithelial to mesenchymal transition regulation of neuron projection development anaphase-promoting complex binding negative regulation of phosphatidylinositol 3-kinase signaling negative regulation of phosphatidylinositol 3-kinase signaling phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity apical plasma membrane cell migration protein deubiquitination PML body enzyme binding protein kinase binding dentate gyrus development central nervous system neuron axonogenesis PDZ domain binding negative regulation of cell migration adult behavior negative regulation of myelination regulation of protein stability negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle regulation of synaptic transmission, GABAergic central nervous system myelin maintenance response to estradiol regulation of cellular component size regulation of myeloid cell apoptotic process response to ATP multicellular organismal response to stress social behavior peptidyl-tyrosine dephosphorylation myelin sheath adaxonal region response to drug maternal behavior identical protein binding cell projection neuron projection negative regulation of apoptotic process dendritic spine Schmidt-Lanterman incisure protein kinase B signaling endothelial cell migration inositol phosphate metabolic process postsynaptic membrane response to ethanol locomotor rhythm negative regulation of cell size negative regulation of organ growth response to arsenic-containing substance inositol phosphate dephosphorylation phosphatidylinositol dephosphorylation phosphatidylinositol dephosphorylation platelet-derived growth factor receptor signaling pathway phosphatidylinositol-mediated signaling negative regulation of axon regeneration cardiac muscle tissue development forebrain morphogenesis brain morphogenesis negative regulation of epithelial cell proliferation negative regulation of phagocytosis negative regulation of axonogenesis protein stabilization T cell receptor signaling pathway positive regulation of sequence-specific DNA binding transcription factor activity negative regulation of keratinocyte migration inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity negative regulation of focal adhesion assembly negative regulation of protein kinase B signaling rhythmic synaptic transmission negative regulation of cardiac muscle cell proliferation canonical Wnt signaling pathway synapse maturation prepulse inhibition male mating behavior long-term synaptic potentiation long term synaptic depression prostate gland growth dendritic spine morphogenesis negative regulation of dendritic spine morphogenesis negative regulation of ERK1 and ERK2 cascade positive regulation of ERK1 and ERK2 cascade cellular response to electrical stimulus cellular response to hypoxia negative regulation of ribosome biogenesis negative regulation of cell aging negative regulation of excitatory postsynaptic potential presynaptic membrane assembly postsynaptic density assembly negative regulation of wound healing, spreading of epidermal cells positive regulation of TRAIL-activated apoptotic signaling pathway positive regulation of ubiquitin protein ligase activity ubiquitin-specific protease binding positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process negative regulation of G1/S transition of mitotic cell cycle positive regulation of excitatory postsynaptic potential negative regulation of synaptic vesicle clustering |
| Pathways : BIOCARTA | [Genes] |
| Pathways : KEGG | |
| REACTOME | P60484 [protein] |
| REACTOME Pathways | R-HSA-5689896 [pathway] |
| NDEx Network | PTEN |
| Atlas of Cancer Signalling Network | PTEN |
| Wikipedia pathways | PTEN |
| Orthology - Evolution |
| OrthoDB | 5728 |
| GeneTree (enSembl) | ENSG00000171862 |
| Phylogenetic Trees/Animal Genes : TreeFam | PTEN |
| HOVERGEN | P60484 |
| HOGENOM | P60484 |
| Homologs : HomoloGene | PTEN |
| Homology/Alignments : Family Browser (UCSC) | PTEN |
| Gene fusions - Rearrangements |
| Fusion : Mitelman | PTEN/C1orf226 [10q23.31/1q23.3]   |
| Fusion : Mitelman | PTEN/CTNNA3 [10q23.31/10q21.3]  [t(10;10)(q21;q23)] |
| Fusion: TCGA | PTEN 10q23.31 C1orf226 1q23.3 PRAD |
| Fusion: TCGA | PTEN 10q23.31 CTNNA3 10q21.3 PRAD |
| Fusion Cancer (Beijing) | PTEN [10q23.31] - PACS1 [11q13.1] [FUSC004337] [FUSC004337] [FUSC004337] |
| Polymorphisms : SNP and Copy number variants |
| NCBI Variation Viewer | PTEN [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | PTEN |
| dbVar | PTEN |
| ClinVar | PTEN |
| 1000_Genomes | PTEN |
| Exome Variant Server | PTEN |
| ExAC (Exome Aggregation Consortium) | PTEN (select the gene name) |
| Genetic variants : HAPMAP | 5728 |
| Genomic Variants (DGV) | PTEN [DGVbeta] |
| DECIPHER | PTEN [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | PTEN |
| Mutations |
| ICGC Data Portal | PTEN |
| TCGA Data Portal | PTEN |
| Broad Tumor Portal | PTEN |
| OASIS Portal | PTEN [ Somatic mutations - Copy number] |
| Cancer Gene: Census | PTEN |
| Somatic Mutations in Cancer : COSMIC | PTEN [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | PTEN |
| intOGen Portal | PTEN |
| LOVD (Leiden Open Variation Database) | Whole genome datasets |
| LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
| LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
| LOVD (Leiden Open Variation Database) | Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) |
| BioMuta | search PTEN |
| DgiDB (Drug Gene Interaction Database) | PTEN |
| DoCM (Curated mutations) | PTEN (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | PTEN (select a term) |
| intoGen | PTEN |
| NCG5 (London) | PTEN |
| Cancer3D | PTEN(select the gene name) |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 153480 155600 158350 176807 188470 275355 276950 601728 601728 605309 607174 608089 613028 |
| Orphanet | 243 565 1473 16690 2675 18693 3384 10898 10867 11125 |
| Medgen | PTEN |
| Genetic Testing Registry | PTEN
|
| NextProt | P60484 [Medical] |
| TSGene | 5728 |
| GENETests | PTEN |
| Target Validation | PTEN |
| Huge Navigator |
PTEN [HugePedia] |
| snp3D : Map Gene to Disease | 5728 |
| BioCentury BCIQ | PTEN |
| ClinGen | PTEN (curated) |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 5728 |
| Chemical/Pharm GKB Gene | PA33942 |
| Drug Sensitivity | PTEN |
| Clinical trial | PTEN |
| Miscellaneous |
|---|
| canSAR (ICR) | PTEN (select the gene name) |
| Other database | http://cancergenome.broadinstitute.org/index.php?tgene=PTEN |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 499 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | PTEN |
| EVEX | PTEN |
| GoPubMed | PTEN |
| iHOP | PTEN |