Version: 8.0.0Date: Tue Jan 28 2025
Gene
PTEN
- Species
- Homo sapiens
- Symbol
- PTEN
- Name
- phosphatase and tensin homolog
- Synonyms
- 10q23del
- BZS
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including PDZ domain binding activity; anaphase-promoting complex binding activity; and phosphatase activity. Involved in several processes, including dephosphorylation; negative regulation of cell migration; and regulation of protein metabolic process. Located in several cellular components, including apical plasma membrane; cytoplasmic side of plasma membrane; and nucleoplasm. Implicated in several diseases, including PTEN hamartoma tumor syndrome (multiple); breast cancer (multiple); macrocephaly-autism syndrome; nervous system cancer (multiple); and reproductive organ cancer (multiple). Biomarker of several diseases, including coronary artery disease (multiple); gastrointestinal system cancer (multiple); in situ carcinoma (multiple); reproductive organ cancer (multiple); and urinary system cancer (multiple).
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR12305
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr10:87862638...87971930 + (109.29 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.