PTEN gene homepage

General information
Gene symbol PTEN
Gene name phosphatase and tensin homolog
Chromosome 10
Chromosomal band q23
Imprinted Unknown
Genomic reference LRG_311
Transcript reference NM_000314.4
Exon/intron information NM_000314.4 exon/intron table
Associated with diseases BRRS, cancer, prostate, CMM-1, CWS, GLM-2, HNSCC, meningioma, NMTC-2, VATERL-H, cancer, endometrial, macrocephaly/autism syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Dr Fiona Clay
Total number of public variants reported 778
Unique public DNA variants reported 555
Individuals with public variants 407
Hidden variants 32
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated July 12, 2019
Version PTEN:190712

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000314.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/PTEN
HGNC 9588
Entrez Gene 5728
PubMed articles PTEN
OMIM - Gene 601728
OMIM - Diseases BRRS (Bannayan-Riley-Ruvalcaba syndrome (BRRS))
cancer, prostate
CMM-1 (melanoma, cutaneous, malignant, susceptibility to, type 1 (CMM-1))
CWS (Cowden syndrome (CWS))
GLM-2 (glioma, susceptibility, type 2 (GLM-2))
HNSCC (carcinoma, squamous cell, head and neck (HNSCC))
meningioma (meningioma, familial, susceptibility to)
NMTC-2 (cancer, thyroid, nonmedullary, type 2 (NMTC-2, follicular))
VATERL-H (VATERL association with hydrocephalus (VACTERL-H))
cancer, endometrial
macrocephaly/autism syndrome
HGMD PTEN
GeneCards PTEN
GeneTests PTEN


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017092 10 phosphatase and tensin homolog NM_000314.4 NP_000305.3 778


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.