PTEN Gene: Phosphatase and Tensin Homolog
A critical tumor suppressor gene in cancer and developmental disorders
Gene Information Card
| Symbol | PTEN |
|---|---|
| Full Name | Phosphatase and Tensin Homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 5728 ncbi.nlm.nih.gov/gene/5728 |
| Ensembl ID | ENSG00000171862 |
| UniProt ID | P60484 |
| OMIM ID | 601728 |
| HGNC ID | 9588 |
| Aliases | MMAC1, TEP1, BZS, CWS1, DEC, GLM2, MHAM, PTEN1, 10q23del |
Description
PTEN (Phosphatase and Tensin Homolog) is a tumor suppressor gene that encodes a dual-specificity phosphatase. It negatively regulates the PI3K/AKT signaling pathway by dephosphorylating phosphatidylinositol (3,4,5)-trisphosphate (PIP3), thereby controlling cell growth, proliferation, and survival. Loss-of-function mutations in PTEN are implicated in various cancers and PTEN hamartoma tumor syndromes, including Cowden syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cowden syndrome | Germline loss-of-function mutations lead to constitutive PI3K/AKT activation | OMIM #158350 |
| PTEN hamartoma tumor syndrome | Heterozygous germline mutations cause multiple hamartomas and increased cancer risk | OMIM #601728 |
| Glioblastoma | Somatic deletions or mutations inactivate PTEN, promoting tumor progression | COSMIC, NCBI |
| Prostate cancer | PTEN loss is frequent and associated with aggressive disease | COSMIC, ClinVar |
| Endometrial cancer | PTEN mutations are early events in endometrial carcinogenesis | COSMIC, NCBI |
| Breast cancer | PTEN loss correlates with poor prognosis and resistance to therapy | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Heart | 8.5 | Medium |
| Liver | 7.1 | Medium |
| Kidney | 9.8 | Medium |
| Lung | 6.3 | Low |
| Testis | 12.4 | High |
| Ovary | 7.9 | Medium |
| Colon | 8.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 11.5 | Embryonic kidney cells |
| HeLa | 9.2 | Cervical cancer cells |
| MCF7 | 7.8 | Breast cancer cells |
| A549 | 6.4 | Lung cancer cells |
| PC3 | 3.1 | Prostate cancer cells (PTEN-null) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.697C>T (p.Arg233*) | Nonsense | Rare | Loss of function |
| c.388C>T (p.Arg130*) | Nonsense | Common in Cowden syndrome | Loss of function |
| c.1003C>T (p.Arg335*) | Nonsense | Rare | Loss of function |
| c.209+1G>A | Splice site | Rare | Loss of function |
| c.511C>T (p.Arg171His) | Missense | Rare | Loss of function |
| c.1026+1G>T | Splice site | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PTEN mutations are loss-of-function, reducing or abolishing phosphatase activity, leading to PI3K/AKT pathway hyperactivation.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented for PTEN; the gene primarily acts as a tumor suppressor.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type PTEN function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004725 | • protein tyrosine phosphatase activity |
| • GO:0004438 | • phosphatidylinositol-3-phosphatase activity |
| • GO:0008283 | • cell proliferation |
| • GO:0006915 | • apoptotic process |
| • GO:0043066 | • negative regulation of apoptotic process |
| • GO:0046856 | • phosphatidylinositol dephosphorylation |
| • GO:0007165 | • signal transduction |
| • GO:0016311 | • dephosphorylation |
Pathways
• PI3K/AKT signaling pathway (Reactome: R-HSA-1257604)
• PTEN regulation (Reactome: R-HSA-6807070)
• Signaling by PTEN (Reactome: R-HSA-6807070)
Protein Summary
PTEN is a 403-amino acid dual-specificity phosphatase that dephosphorylates both protein and lipid substrates. Its primary substrate is phosphatidylinositol (3,4,5)-trisphosphate (PIP3), converting it to PIP2, thereby antagonizing PI3K signaling. The protein contains an N-terminal phosphatase domain, a C2 domain, and a C-terminal tail with regulatory phosphorylation sites. PTEN localizes to the cytoplasm and nucleus, and its loss leads to uncontrolled cell growth and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTEN Knockout HCT 116 Cell Line | EDJ-KQ18100 | Human | 5728 | Details Get a Quote |
| PTEN Knockout HEK293 Cell Line | EDJ-KQ50096 | Human | 5728 | Details Get a Quote |
| PTEN Knockout BxPC-3 Cell Line | EDJ-KZ416 | Human | 5728 | Details Get a Quote |
| PTEN Knockout PANC-1 Cell Line | EDJ-KZ417 | Human | 5728 | Details Get a Quote |
| PTEN Knockout HeLa Cell Line | EDJ-KQ54253 | Human | 5728 | Details Get a Quote |
| PTEN Knockout A-549 Cell Line | EDJ-KQ62744 | Human | 5728 | Details Get a Quote |
| PTEN (p.R130G) Point Mutation in HCT 116 Cell Line | EDC03079 | Human | 5728 | Details Get a Quote |
| PTEN (p.R233*) Point Mutation in HCT 116 Cell Line | EDC03115 | Human | 5728 | Details Get a Quote |
| PTEN (p.R130L) Point Mutation in HCT 116 Cell Line | EDC03126 | Human | 5728 | Details Get a Quote |
| PTEN (p.R173H) Point Mutation in HCT 116 Cell Line | EDC03129 | Human | 5728 | Details Get a Quote |
| PTEN Knockout HAP1 Cell Line | EDC07802 | Human | 5728 | Details Get a Quote |
| PTEN Knockout BEAS-2B Cell Line | EDC90163 | Human | 5728 | Details Get a Quote |
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