The 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, CMM1, CWS1, GLM2, HNSCC, meningioma, NMTC2, VATERLH, cancer, endometrial, macrocephaly/autism syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 1232
Unique public DNA variants reported 842
Individuals with public variants 849
Hidden variants 41
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 September 21, 2022
Version PTEN:220921

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
HGNC 9588
Entrez Gene 5728
PubMed articles PTEN
OMIM - Gene 601728
OMIM - Diseases BRRS (Bannayan-Riley-Ruvalcaba syndrome (BRRS))
cancer, prostate
CMM1 (melanoma, cutaneous, malignant, susceptibility to, type 1 (CMM-1))
CWS1 (Cowden syndrome, type 1 (CWS1))
GLM2 (glioma, susceptibility, type 2 (GLM-2))
HNSCC (carcinoma, squamous cell, head and neck (HNSCC))
meningioma (meningioma, familial, susceptibility to)
NMTC2 (cancer, thyroid, nonmedullary, type 2 (NMTC-2, follicular))
VATERLH (VATERL association with hydrocephalus (VACTERL-H))
cancer, endometrial
macrocephaly/autism syndrome
GeneCards PTEN
GeneTests PTEN
Orphanet PTEN

Active transcripts




NCBI ID     

NCBI Protein ID     

00017092 10 phosphatase and tensin homolog NM_000314.4 NP_000305.3 1232

Copyright & disclaimer
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