View gene PTEN

General information
Gene symbol PTEN
Gene name phosphatase and tensin homolog
Chromosome 10
Chromosomal band q23
Imprinted Unknown
Genomic reference NG_007466.2
Transcript reference NM_000314.4
Exon/intron information NM_000314.4
Associated with diseases CMM-1, CWS, meningioma, NMTC-2, Bannayan-Riley-Ruvalcaba syndrome, cancer, endometrial, cancer, prostate, glioma susceptibility, type 2, Macrocephaly/autism syndrome, Squamous cell carcinoma of the head and neck, VATER association with macrocephaly and ventriculomegaly
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 17
Unique public DNA variants reported 17
Individuals with public variants 17
Hidden variants 0
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 04, 2015
Version PTEN:150904

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 http://www.LOVD.nl/PTEN
HGNC 9588
Entrez Gene 5728
PubMed articles PTEN
OMIM - Gene 601728
OMIM - Diseases CMM-1 (melanoma, cutaneous, malignant, susceptibility to, type 1)
CWS (Cowden syndrome (CWS))
meningioma (meningioma, familial, susceptibility to)
NMTC-2 (cancer, thyroid, nonmedullary, type 2 (NMTC-2, follicular))
Bannayan-Riley-Ruvalcaba syndrome
cancer, endometrial
cancer, prostate
glioma susceptibility, type 2
Macrocephaly/autism syndrome
Squamous cell carcinoma of the head and neck
VATER association with macrocephaly and ventriculomegaly
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 17


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