Phosphatase and Tensin Homolog

Alternative Names

  • PTEN
  • PTEN1
  • Mutated in Multiple Advanced Cancers 1
  • MMAC1
  • Phosphatase and Tensin Homolog Deleted on Chromosome 10
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OMIM Number

601728

NCBI Gene ID

5728

Uniprot ID

P60484

Length

108,306 bases

No. of Exons

10

No. of isoforms

3

Protein Name

Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN

Molecular Mass

47166 Da

Amino Acid Count

403

Genomic Location

chr10:87,863,624-87,971,929

Gene Map Locus
10q23.31

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000314.6:c.331T>GUnited Arab EmiratesNC_000010.11:g.87933090T>GUncertain SignificanceLikely PathogenicCowden Syndrome 1NG_007466.2:g.74652T>G; NM_000314.6:c.331T>G; NP_000305.3:p.Trp111Gly398123321936720
NM_000314.6:c.406T>CUnited Arab EmiratesNC_000010.11:g.87933165T>CPathogenicPathogenicCowden Syndrome 1NG_007466.2:g.74727T>C; NM_000314.6:c.406T>C; NP_000305.3:p.Cys136Arg786201044183726
NM_000314.6:c.70G>CUnited Arab EmiratesNC_000010.11:g.87864539G>CLikely Pathogenic, Pathogenic, Uncertain SignificancePathogenicCowden Syndrome 1NG_007466.2:g.6101G>C; NM_000314.6:c.70G>C; NP_000305.3:p.Asp24His786201995186005
NM_001304717.5:c.101C>TSaudi ArabiaNC_000010.11:g.87864050C>TLikely PathogenicCowden Syndrome 1NG_007466.2:g.5613C>T; NM_001304717.5:c.101C>T; NP_001291646.4:p.Ala34Val

Other Reports

Arab

Al-Shamsi et al. 2021 delineated the somatic mutational spectrum and frequency in Arab women with breast cancer. 78 women mostly with stage 3 or 4 breast cancer exhibited mutations and mutation rates in the following genes: TP53, 23.1%; ATM, 2.6%; IDH1, 2.6%; IDH2, 3.8%; PTEN, 7.7%; PIK3CA, 15.4%; APC, 7.7%; NPM1, 2.5%; MPL, 1.3%; JAK2, 2.5%; KIT, 7.7%; KRAS, 3.8%; and NRAS, 3.8%

United Arab Emirates

In a retrospective study of breast cancer patients in the UAE, Altinoz et al (2020) identified three Emirati patients with variants of uncertain significance in the PTEN gene.  

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