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PTEN phosphatase and tensin homolog

Gene ID: 5728, updated on 17-Jan-2022
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

DescriptionTests
Cowden syndrome 1See 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
Meningioma, familialSee labs
PTEN hamartoma tumor syndromeSee 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

Links

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