PTEN phosphatase and tensin homolog

Gene ID: 5728, updated on 21-Mar-2023
Gene type: protein coding
Also known as: BZS; DEC; CWS1; GLM2; MHAM; TEP1; MMAC1; PTEN1; 10q23del; PTENbeta

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Cowden syndrome 1 MedGen: CN072330OMIM: 158350GeneReviews: PTEN Hamartoma Tumor Syndrome	See labs
Familial meningioma MedGen: C3551915OMIM: 607174GeneReviews: MN1 C-Terminal Truncation Syndrome	See labs
Genome-wide association study of chronic periodontitis in a general German population. GeneReviews: Not available
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. GeneReviews: Not available
Glioma susceptibility 2 MedGen: C2751642OMIM: 613028GeneReviews: Not available	See labs
Macrocephaly-autism syndrome MedGen: C1854416OMIM: 605309GeneReviews: Not available	See labs
Malignant tumor of prostate MedGen: C0376358OMIM: 176807GeneReviews: Not available	See labs
PTEN hamartoma tumor syndrome MedGen: C1959582GeneReviews: PTEN Hamartoma Tumor Syndrome	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-06-24) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-24) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 10q23.31

Sequence:: Chromosome: 10; NC_000010.11 (87863625..87971930)

Total number of exons:: 10

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for PTEN variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

BioSystems
BioSystems
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView

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