| 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) |
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| 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 |
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| Nomenclature | | HGNC (Hugo) | PTEN 9588 |
| Entrez_Gene (NCBI) | PTEN 5728 phosphatase and tensin homolog |
| Cards |
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| Atlas | PTENID158 |
| GeneCards (Weizmann) | PTEN |
| Ensembl (Hinxton) | ENSG00000171862 [Gene_View] PTEN [Vega] |
| AceView (NCBI) | PTEN |
| Genatlas (Paris) | PTEN |
| euGene (Indiana) | 5728 |
| SOURCE (Stanford) | NM_000314
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| Genomic and cartography |
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| GoldenPath (UCSC) | PTEN - 10q23.3 chr10:89613175-89718512 + 10q23 [Description] (hg18-Mar_2006) |
| Ensembl | PTEN - 10q23 [CytoView] |
| Mapping of homologs : NCBI | PTEN [Mapview] |
| OMIM | 137800 153480 158350 174900 176807 176920 188470 276950 601728 605309 607174 612242 |
| Gene and transcription |
| Gene : Genbank (Entrez) | AA017584 AI825848 AK021487 AK021619 AK024986 |
| Reference sequence (RefSeq transcript) :SRS | NM_000314 |
| Reference transcript : Entrez | NM_000314 |
| RefSeq genomic : SRS | AC_000053 AC_000142 NC_000010 NG_007466 NT_030059 NW_001838005 NW_924884 |
| RefSeq genomic : Entrez | AC_000053 AC_000142 NC_000010 NG_007466 NT_030059 NW_001838005 NW_924884 |
| Consensus coding sequences : CCDS NCBI | PTEN |
| Cluster EST : Unigene | Hs.500466 [ SRS ] Hs.500466 [ NCBI ] |
| Alternative Splicing : Fast-db (Paris) | 15227 |
| Protein : pattern, domain, 3D structure |
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| Protein : UniProt/SwissProt | P60484 (SRS) P60484 (Expasy) P60484 (Uniprot) |
| With graphics : InterPro | P60484 |
| Splice isoforms : VarSplice FASTA | P60484(VarSplice FASTA) |
| Domaine pattern : Prosite (SRS) | C2_TENSIN (PS51182) PPASE_TENSIN (PS51181) |
| Domain pattern : Prosite (Expaxy) | C2_TENSIN (PS51182) PPASE_TENSIN (PS51181) |
| Domains : Interpro (SRS) | Bifunc_PIno_P3_Pase/Pase_PTEN Phosphatase_tensin Tensin_C2 Tyr_Pase Tyr_Pase_dual_specific Tyr_Pase_rcpt/non-rcpt |
| Domains : Interpro (EBI) | Bifunc_PIno_P3_Pase/Pase_PTEN Phosphatase_tensin Tensin_C2 Tyr_Pase Tyr_Pase_dual_specific Tyr_Pase_rcpt/non-rcpt |
| Related proteins : CluSTr | P60484 |
| Domain families : Pfam SRS | DSPc (PF00782) |
| Domain families : Pfam Sanger | DSPc (PF00782) |
| Domain families : Pfam NCBI | pfam00782 |
| Blocks (Seattle) | P60484 |
| Crystal structure of protein : PDB SRS | 1D5R |
| Crystal structure of protein : PDBSum | 1D5R |
| Crystal structure of protein : IMB | 1D5R |
| Crystal structure of protein : PDB RSDB | 1D5R |
| HPRD | 03431 |
| Protein Interaction databases |
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| DIP (DOE-UCLA) | P60484 |
| IntAct (EBI) | P60484 |
| Polymorphism : SNP, mutations, diseases |
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| Single Nucleotide Polymorphism (SNP) : dbSNP NCBI | PTEN |
| SNP : GeneSNP Utah | PTEN |
| SNP : HGBase | PTEN |
| Genetic variants : HAPMAP | PTEN |
| Somatic Mutations in Cancer : COSMIC | PTEN |
| Mutations and Diseases : HGMD | PTEN |
| Hereditary diseases : OMIM | 137800 153480 158350 174900 176807 176920 188470 276950 601728 605309 607174 612242 |
| Hereditary diseases : GENETests | 137800 153480 158350 174900 176807 176920 188470 276950 601728 605309 607174 612242 |
| Diseases : Genetic Association | PTEN |
| General knowledge |
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| Homologs : HomoloGene | PTEN |
| Homology/Alignments : Family Browser UCSC | PTEN |
| Phylogenetic Trees/Animal Genes : TreeFam | PTEN |
| Catalytic activity : Enzyme | 3.1.3.67 [ Enzyme-Expasy ] 3.1.3.67 [ Enzyme-SRS ] 3.1.3.67 [ IntEnz-EBI ] 3.1.3.67 [ BRENDA ] 3.1.3.67 [ KEGG ] |
| Chemical/Protein Interactions : CTD | 5728 |
| Keywords Ontology : AmiGO | regulation of cyclin-dependent protein kinase activity magnesium ion binding angiogenesis phosphatidylinositol-3-phosphatase activity protein serine/threonine phosphatase activity protein tyrosine phosphatase activity platelet-derived growth factor receptor binding protein binding nucleus cytoplasm cytoplasm cytosol protein amino acid dephosphorylation protein amino acid dephosphorylation lipid metabolic process induction of apoptosis central nervous system development protein tyrosine/serine/threonine phosphatase activity negative regulation of cell proliferation lipid binding phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity hydrolase activity PDZ domain binding negative regulation of cell migration neurite development regulation of protein stability negative regulation of apoptosis endothelial cell migration negative regulation of cell cycle inositol phosphate dephosphorylation phosphoinositide dephosphorylation platelet-derived growth factor receptor signaling pathway cardiac muscle development inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity negative regulation of focal adhesion formation negative regulation of protein kinase B signaling cascade |
| Keywords Ontology : EGO-EBI | regulation of cyclin-dependent protein kinase activity magnesium ion binding angiogenesis phosphatidylinositol-3-phosphatase activity protein serine/threonine phosphatase activity protein tyrosine phosphatase activity platelet-derived growth factor receptor binding protein binding nucleus cytoplasm cytoplasm cytosol protein amino acid dephosphorylation protein amino acid dephosphorylation lipid metabolic process induction of apoptosis central nervous system development protein tyrosine/serine/threonine phosphatase activity negative regulation of cell proliferation lipid binding phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity hydrolase activity PDZ domain binding negative regulation of cell migration neurite development regulation of protein stability negative regulation of apoptosis endothelial cell migration negative regulation of cell cycle inositol phosphate dephosphorylation phosphoinositide dephosphorylation platelet-derived growth factor receptor signaling pathway cardiac muscle development inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity negative regulation of focal adhesion formation negative regulation of protein kinase B signaling cascade |
| Pathways : BIOCARTA | CTCF: First Multivalent Nuclear Factor [Genes] Regulation of eIF4e and p70 S6 Kinase [Genes] Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway [Genes] mTOR Signaling Pathway [Genes] Signaling of Hepatocyte Growth Factor Receptor [Genes] PTEN dependent cell cycle arrest and apoptosis [Genes] |
| Pathways : KEGG | Inositol phosphate metabolismPhosphatidylinositol signaling systemFocal adhesionTight junction |
| Other databases |
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| Probes |
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| Probes : Imagenes | PTEN Related clones (RZPD - Berlin) |
| Literature |
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| PubMed | 499 Pubmed reference(s) in Entrez |
| PubGene | PTEN |
| 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 |
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| 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 |
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| 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 |
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| 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, Dubouˆ© 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 |
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| 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 |
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