Gene Gene information from NCBI Gene database.
Entrez ID 5728
Gene name Phosphatase and tensin homolog
Gene symbol PTEN
Synonyms (NCBI Gene)
10q23delBZSCWS1DECGLM2MHAMMMAC1PTEN1PTENbetaPTENgamaTEP1
Chromosome 10
Chromosome location 10q23.31
Summary 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 cata
SNPs SNP information provided by dbSNP.
404
SNP ID Visualize variation Clinical significance Consequence
rs121909218 G>A Pathogenic 5 prime UTR variant, missense variant, coding sequence variant
rs121909219 C>A,T Pathogenic, not-provided, likely-benign Stop gained, synonymous variant, coding sequence variant
rs121909220 G>T Pathogenic 5 prime UTR variant, stop gained, coding sequence variant
rs121909221 T>A,G Pathogenic, likely-pathogenic 5 prime UTR variant, missense variant, coding sequence variant
rs121909222 A>G Pathogenic, likely-pathogenic 5 prime UTR variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
2264
miRTarBase ID miRNA Experiments Reference
MIRT000799 hsa-miR-214-3p Western blotqRT-PCRLuciferase reporter assay 18199536
MIRT001209 hsa-miR-494-3p qRT-PCRLuciferase reporter assayWestern blot 20006626
MIRT001209 hsa-miR-494-3p qRT-PCRLuciferase reporter assayWestern blot 20006626
MIRT001190 hsa-miR-21-5p qRT-PCRWestern blot 19906824
MIRT001095 hsa-miR-26a-5p Western blot 19487573
Transcription factors Transcription factors information provided by TRRUST V2 database.
21
Transcription factor Regulation Reference
AR Activation 23418309
AR Unknown 20729295;21532617
EGR1 Activation 17516844;20514024
EGR1 Unknown 20959484
EZH2 Unknown 22956625
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
140
GO ID Ontology Definition Evidence Reference
GO:0001649 Process Osteoblast differentiation IDA 22869525
GO:0004438 Function Phosphatidylinositol-3-phosphate phosphatase activity IDA 9811831
GO:0004721 Function Phosphoprotein phosphatase activity IDA 21241890
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IDA 9256433
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601728 9588 ENSG00000171862
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P60484
Protein name Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN (EC 3.1.3.16) (EC 3.1.3.48) (EC 3.1.3.67) (Inositol polyphosphate 3-phosphatase) (EC 3.1.3.-) (Mutated in multiple advanced cancers 1) (Phosphatase and te
Protein function Dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins (PubMed:9187108, PubMed:9256433, PubMed:9616126). Also functions as a lipid phosphatase, removing the phosphate in the D3 position o
PDB 1D5R , 2KYL , 4O1V , 5BUG , 5BZX , 5BZZ , 7JTX , 7JUK , 7JUL , 7JVX , 7PC7 , 8X3S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00782 DSPc 67 173 Dual specificity phosphatase, catalytic domain Domain
PF10409 PTEN_C2 188 349 C2 domain of PTEN tumour-suppressor protein Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at a relatively high level in all adult tissues, including heart, brain, placenta, lung, liver, muscle, kidney and pancreas. {ECO:0000269|PubMed:9090379}.
Sequence
Sequence length 403
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways
EGFR tyrosine kinase inhibitor resistance
FoxO signaling pathway
Phosphatidylinositol signaling system
Sphingolipid signaling pathway
p53 signaling pathway
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
Cellular senescence
Focal adhesion
Insulin resistance
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Pathways in cancer
MicroRNAs in cancer
Chemical carcinogenesis - reactive oxygen species
Endometrial cancer
Glioma
Prostate cancer
Melanoma
Small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Central carbon metabolism in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Diabetic cardiomyopathy
  Synthesis of PIPs at the plasma membrane
Synthesis of IP3 and IP4 in the cytosol
Negative regulation of the PI3K/AKT network
Downstream TCR signaling
TP53 Regulates Metabolic Genes
PTEN Loss of Function in Cancer
Ub-specific processing proteases
Ovarian tumor domain proteases
Regulation of PTEN mRNA translation
Regulation of PTEN localization
Regulation of PTEN stability and activity
Transcriptional Regulation by MECP2
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6249
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal cardiovascular system morphology Likely pathogenic; Pathogenic rs121909219, rs121909224 RCV001327980
RCV001327978
Abnormality of the nervous system Pathogenic rs121909231 RCV001813965
Acute megakaryoblastic leukemia Likely pathogenic; Pathogenic rs786201044 RCV000202582
Atypical endometrial hyperplasia Pathogenic rs2132242679 RCV003328128
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autistic behavior Uncertain significance rs746152219 RCV002243863
Breast cancer, susceptibility to Uncertain significance rs878853931 RCV000656475
Breast-ovarian cancer, familial, susceptibility to, 1 Uncertain significance rs786202612 RCV005861069
Carcinoma of colon Likely benign; Benign rs202004587, rs766570103, rs757777398 RCV001357785
RCV001354121
RCV001358199
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 31971667
Abnormalities Drug Induced Associate 24457075
Acanthoma Associate 11886535
Acidosis Associate 25504433
Adenocarcinoma Associate 16803514, 17700571, 20208477, 20881644, 22982652, 23018874, 24168499, 24568597, 25554686, 26166648, 26178158, 26315110, 26331372, 27246533, 29219616
View all (11 more)
Adenocarcinoma Inhibit 17348444
Adenocarcinoma Follicular Associate 10793080, 21417916, 31699114, 9832031
Adenocarcinoma of Lung Associate 14614329, 19638575, 26695147, 27383307, 27822469, 29048623, 29525983, 31436252, 36275477
Adenocarcinoma of Lung Inhibit 29271375
Adenoma Associate 10793080, 26743285, 27494611