• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PTEN (HGNC:9588) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
phosphatase and tensin homolog
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
BZS, MHAM
Alias symbols
MMAC1, TEP1, PTEN1
%HI
0.07(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.26(Read more about gnomAD pLI score)
LOEUF
0.51(Read more about gnomAD LOEUF score)
Cytoband
10q23.31
Genomic Coordinates
GRCh37/hg19: chr10:89623382-89731687 NCBI Ensembl UCSC
GRCh38/hg38: chr10:87863625-87971930 NCBI Ensembl UCSC
MANE Select Transcript
NM_000314.8 ENST00000371953.8 (Read more about MANE Select)
Function
Dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins (PubMed:9187108, PubMed:9256433, PubMed:9616126). Also functions as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring of PtdIns(3,4,5)P3/phosphatidylinositol 3,4,5- trisphosphate, PtdIns(3,4)P2/phosphatidylinositol 3,4-diphosphate and PtdIns3P/phosphatidylinositol 3-phosphate with a preference for PtdIns(3,4,5)P3 (PubMed:9811831, PubMed:16824732, PubM... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2602
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
06/24/2020

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 21194675
    Tan et al. report a study of 3042 individuals who met relaxed criteria for Cowden Syndrome and report 290 (9.5%) with pathogenic mutations in PTEN. The majority were presumed loss of function mutations - 92 (32%) nonsense mutations, 42 (14%) small deletions, 24 (8%) small insertions, 3 (1%) indels, 8 (3%) large deletions, 19 (7%) splice-site donor mutations, 9 (3%) splice-site acceptor mutations.
  • PUBMED: 32003824
    Yehia et al. report on 481 patients with pathogenic germline PTEN variants. This cohort includes those reported in Tan et al (PMID 21194675). The mutation spectrum includes 242 truncating mutations, as well as 12 exon-level deletions.
HI Evidence Comments:
Loss of function mutations in PTEN are associated with macrocephaly and autism as well as hamartomatous tumor syndromes such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like syndrome. The various PTEN-associated clinical presentations are collectively referred to as PTEN hamartoma tumor syndrome (PHTS).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Duplications involving the PTEN gene have been reported in patients with microcephaly and other neurodevelopmental phenotypes (PMID 30301738, 26088875), however these duplications involved additional genes. To our knowledge, no single gene duplications of the entire PTEN locus have been reported.

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)