PTEN Chromosome 10
Phosphatase and tensin homolog
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What This Gene Does
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]
Gene Info
Gene Group
"C2 tensin-type domain containing|PTEN protein phosphatases|Phosphoinositide phosphatases"
Locus Type
gene with protein product
Location
10q23.31
Ensembl
ENSG00000171862
Associated Conditions (96)
Cowden syndrome 1
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Macrocephaly-autism syndrome
Familial meningioma
Glioma susceptibility 2
Familial prostate cancer
Breast and/or ovarian cancer
Prostate cancer
PTEN-related disorder
Diffuse pediatric-type high-grade glioma
H3-wildtype and IDH-wildtype
Melanoma
Vater association with macrocephaly and ventriculomegaly
Bannayan-Riley-Ruvalcaba syndrome
Cowden syndrome
Diffuse midline glioma
H3 K27M-mutant
Hereditary breast ovarian cancer syndrome
Neoplasm
+76 more conditions
Key Variants
RS1045014545
Conflicting classifications of pathogenicity
Cowden syndrome 1, Cowden syndrome 1
Health Risk
RS1050226735
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057520525
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome, Cowden syndrome 1
Health Risk
RS1057523132
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057523975
Conflicting classifications of pathogenicity
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome, Cowden syndrome 1
Health Risk
RS1060500118
Conflicting classifications of pathogenicity
PTEN hamartoma tumor syndrome, Cowden syndrome 1, PTEN hamartoma tumor syndrome
Health Risk
RS1060500121
Conflicting classifications of pathogenicity
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome, Glioma susceptibility 2
Health Risk
RS1060500125
Conflicting classifications of pathogenicity
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
Health Risk
RS1060500128
Conflicting classifications of pathogenicity
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
Health Risk
RS1060503839
Conflicting classifications of pathogenicity
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer
Health Risk
RS1060503841
Conflicting classifications of pathogenicity
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome, Cowden syndrome 1
Health Risk
RS1064794169
Conflicting classifications of pathogenicity
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
Health Risk
All Variants (1069)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554898238 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS1554900515 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1554900635 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS1554900673 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1564566998 | Health Risk | Likely pathogenic | PTEN-related disorder, Hereditary cancer-predisposing syndrome, PTEN-related disorder |
| RS1564568303 | Health Risk | Likely pathogenic | Macrocephaly-autism syndrome, Macrocephaly-autism syndrome |
| RS1564568689 | Health Risk | Likely pathogenic | Cowden syndrome, Cowden syndrome |
| RS1564801388 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS1564801473 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS1564828909 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS1564830522 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, Malignant tumor of breast, Hereditary cancer-predisposing syndrome |
| RS1564837839 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS1589617114 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1589617371 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS1589646100 | Health Risk | Likely pathogenic | — |
| RS1589652681 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1589659775 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Uterine corpus endometrial carcinoma, Glioma susceptibility 1 |
| RS1589665532 | Health Risk | Likely pathogenic | Cowden syndrome 1, Cowden syndrome 1 |
| RS1859093459 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS1859801386 | Health Risk | Likely pathogenic | — |
| RS1859804665 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS1859963198 | Health Risk | Likely pathogenic | Cowden syndrome 1, PTEN hamartoma tumor syndrome, Cowden syndrome 1 |
| RS1859979785 | Health Risk | Likely pathogenic | Cowden syndrome, Cowden syndrome |
| RS1860625934 | Health Risk | Likely pathogenic | Cowden syndrome 1, Cowden syndrome 1 |
| RS1860627982 | Health Risk | Likely pathogenic | — |
| RS1860631246 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2132145338 | Health Risk | Likely pathogenic | Cowden syndrome 1, Cowden syndrome 1 |
| RS2132145451 | Health Risk | Likely pathogenic | Macrocephaly-autism syndrome, PTEN hamartoma tumor syndrome, Macrocephaly-autism syndrome |
| RS2132146122 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2132187034 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS2132187278 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2132232321 | Health Risk | Likely pathogenic | See cases, PTEN hamartoma tumor syndrome, See cases |
| RS2132241961 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2132242585 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Prostate cancer, hereditary |
| RS2132242699 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome, Prostate cancer |
| RS2132242979 | Health Risk | Likely pathogenic | Prostate cancer, hereditary, 1 |
| RS2132269646 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2132277565 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2132282499 | Health Risk | Likely pathogenic | Cowden syndrome 1, Cowden syndrome 1 |
| RS2132283188 | Health Risk | Likely pathogenic | Cowden syndrome 1, Cowden syndrome 1 |
| RS2132289111 | Health Risk | Likely pathogenic | Cowden syndrome 1, Cowden syndrome 1 |
| RS2132289978 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2132289992 | Health Risk | Likely pathogenic | PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2493591392 | Health Risk | Likely pathogenic | Cowden syndrome 1, Cowden syndrome 1 |
| RS2493592155 | Health Risk | Likely pathogenic | Glioma susceptibility 2, Glioma susceptibility 2 |
| RS2493592219 | Health Risk | Likely pathogenic | Cowden syndrome 1, Cowden syndrome 1 |
| RS2493592471 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493648077 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493648782 | Health Risk | Likely pathogenic | Cowden syndrome 1, Cowden syndrome 1 |
| RS2493649065 | Health Risk | Likely pathogenic | Cowden syndrome 1, Cowden syndrome 1 |