Biomarker: PTEN

Biomarker subtype: gene

Clinical application: diagnosis(earliest endometrial precancers)

Histology type: endometrial carcinoma

Stage: early stage

Country: USA

Region: Boston

Sample type : tissue

Clinical method: denaturing gradient gel electrophoresis/immunohistochemistry、 PCR

Expression pattern : Altered expression

Description: Individual PTEN-negative glands in estrogen-exposed endometria are the earliest recognizable stage of endometrial carcinogenesis. Proliferation into dense clusters that form discrete premalignant lesions follows.

Approved symbol: PTEN

Approved name: phosphatase and tensin homolog

Locus type: gene with protein product

HGNC ID: HGNC:9588

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9588

Symbol status: Approved

Previous symbols: BZS MHAM

Alias symbols: MMAC1 TEP1 PTEN1

Subgroup: Dual specificity phosphatases (DUSP)"$ "C2 domain containing"$ "Lipid phosphatases"

OMIM: 601728

Omim link: https://www.omim.org/entry/601728

NCBI name: 5728

NCBI link: https://www.ncbi.nlm.nih.gov/gene/5728

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 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]

Expression: Ubiquitous expression in fat (RPKM 42.8), spleen (RPKM 28.6) and 25 other tissues

NCBI gene expression https://www.ncbi.nlm.nih.gov/gene/5728#gene-expression

PDB ID: P60484

PDB link: https://www.ebi.ac.uk/pdbe/entry/search/index/?searchParams=%7B%22q_uniprot%22:%5B%7B%22value%22:%22(P60484)%22,%22condition1%22:%22AND%22,%22condition2%22:%22Contains%22%7D%5D,%22resultState%22:%7B%22tabIndex%22:0,%22paginationIndex%22:1,%22perPage%22:%2210%22,%22sortBy%22:%22Sort%20by%22%7D%7D

MF term ID: GO:0051717$GO:0051800

MF term name: inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity$phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity

BP term ID: GO:2000808

BP term name: negative regulation of synaptic vesicle clustering

Source description: REAC$WP$MIRNA

Term ID: REAC:R-HSA-5674404$WP:WP4186$MIRNA:hsa-miR-518c-3p$MIRNA:hsa-miR-718

Term name: PTEN Loss of Function in Cancer$Somatroph axis (GH) and its relationship to dietary restriction and aging$hsa-miR-718$hsa-miR-518c-3p