Gene Information
Gene Symbol
10q23del, BZS, CWS1, DEC, GLM2, MHAM, MMAC1, PTEN1, PTENbeta, TEP1
Entrez Gene ID
Gene Name
Phosphatase and tensin homolog
Chromosomal Location
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]
RefSeq DNA
RefSeq mRNA

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0000079 Biological process Regulation of cyclin-dependent protein serine/threonine kinase activity TAS 10918569
GO:0001933 Biological process Negative regulation of protein phosphorylation IDA 20123964
GO:0006470 Biological process Protein dephosphorylation IDA 9256433
GO:0006470 Biological process Protein dephosphorylation TAS 9367992
GO:0008283 Biological process Cell proliferation TAS 10918569
Protein Information
Protein Name
Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, MMAC1 phosphatase and tensin homolog deleted on chromosome 10, mitochondrial PTENalpha, mitochondrial phosphatase and tensin protein alpha, mutated in multiple advanced cancers 1, phosphatase and tensin-like protein, phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, protein tyrosine phosphatase
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 (PubMed:26504226, PubMed:16824732). 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
Refseq Proteins
Pfam Accession Pfam ID
PF00782 DSPc
PF10409 PTEN_C2

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
Endometrial cancer
Prostate cancer
Small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Central carbon metabolism in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer


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

ENSP00000260356 P07996 P07996
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Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Hypertensive disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases
Language Development Disorder
Macrocephaly/autism syndrome
Long QT Syndrome
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
PCOS, endometrial cancer 
Rotterdam European Society for Human Reproduction and Embryology (ESHRE) and the American Society of Reproductive Medicine (ASRM) criteria 
102 participants: 34 PCOS, 34 EC and 34 control. 
Women with PCOS and EC have an increased endometrial expression of genes (IGF1, IGFBP1 and PTEN) involved in the insulin signalling pathway compared with control women. This may explain the increased risk of EC in PCOS women. 

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