LOVD PTEN homepage

General information
Gene name phosphatase and tensin homolog
Gene symbol PTEN
Chromosome Location 10q23
Database location MingQi_Lab
Curator Ming Qi, PhD, FACMG, Peikuan Cong and Yuanli Lei
Database reference for citations Pan M et al, 2011 Zhang T et al, 2010
PubMed references View all (unique) PubMed references in the PTEN database
Date of creation May 04, 2013
Last update May 17, 2013
Version PTEN130517
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007466.1
Transcript refseq ID NM_000314.4
Total number of unique DNA variants reported 235
Total number of individuals with variant(s) 70
Total number of variants reported 316
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NOTE This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded 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. [provided by RefSeq, Jul 2008]
Also known as: BZS; DEC; CWS1; GLM2; MHAM; TEP1; MMAC1; PTEN1; 10q23del

Graphical displays and utilities
Summary tables Summary of all sequence variants in the PTEN database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the PTEN database, without patient data
Complete sequence variant listing Listing of all sequence variants in the PTEN database
Variants with no known pathogenicity Listing of all PTEN variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.genomed.org/lovd2/home.php?select_db=PTEN
HGNC 9588
Entrez Gene 5728
OMIM - Gene 601728
OMIM - Disease #1 Cowden disease (CD)
OMIM - Disease #2 Lhermitte-Duclos disease (LDD)
OMIM - Disease #3 Bannayan-Zonana syndrome (BZS)
OMIM - Disease #4 head and neck squamous cell carcinomas (HNSCC)
OMIM - Disease #5 endometrial cancer (ENDMC)
OMIM - Disease #6 glioma type 2 (GLM2)
OMIM - Disease #7 VACTERL association with hydrocephalus (VACTERL-H)
OMIM - Disease #8 prostate cancer (PC)
OMIM - Disease #9 macrocephaly/autism syndrome (MCEPHAS)
UniProtKB (SwissProt/TrEMBL) P60484
GeneCards PTEN
GeneTests PTEN

Copyright & disclaimer
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