Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5728
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatase and tensin homolog
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTEN
Synonyms (NCBI Gene) Gene synonyms aliases
10q23del, BZS, CWS1, DEC, GLM2, MHAM, MMAC1, PTEN1, PTENbeta, PTENgama, TEP1
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q23.31
Summary Summary of gene provided in NCBI Entrez 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 cata
SNPs SNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT000799 hsa-miR-214-3p Western blot, qRT-PCR, Luciferase reporter assay 18199536
MIRT001209 hsa-miR-494-3p qRT-PCR, Luciferase reporter assay, Western blot 20006626
MIRT001209 hsa-miR-494-3p qRT-PCR, Luciferase reporter assay, Western blot 20006626
MIRT001190 hsa-miR-21-5p qRT-PCR, Western blot 19906824
MIRT001095 hsa-miR-26a-5p Western blot 19487573
Transcription factors
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601728 9588 ENSG00000171862
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Breast Cancer Malignant tumor of breast rs1064793243, rs1564830522 N/A
Cowden Syndrome Cowden syndrome 1, cowden syndrome rs1114167624, rs1554898085, rs121909231, rs121909229, rs876660634, rs1085308041, rs1554898091, rs587782603, rs1554897240, rs57374291, rs121909219, rs587776671, rs398123330, rs786204910, rs587776670
View all (170 more)
N/A
Glioma Glioma susceptibility 2, glioma rs1060500126, rs786201995, rs121909239, rs1114167656, rs121909224, rs786204900, rs1554897889, rs786202517, rs1554900615, rs781647403, rs762518389, rs587776667, rs121909219, rs398123317, rs121909241
View all (9 more)
N/A
hereditary cancer Hereditary cancer rs1554897271 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bannayan-Riley-Ruvalcaba Syndrome bannayan-riley-ruvalcaba syndrome N/A N/A ClinVar
Carcinoma squamous cell carcinoma N/A N/A ClinVar
Diabetes Type 2 diabetes (adjusted for BMI), Type 2 diabetes N/A N/A GWAS
Hepatocellular Carcinoma Hepatocellular carcinoma Genome-wide CRISPR knockout screens identify ADAMTSL3 and PTEN genes as suppressors of HCC proliferation and metastasis, respectively 32266537 CBGDA
Associations from Text Mining Disease 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