| Name | phosphatase and tensin homolog (mutated in multiple advanced cancers 1) |
| Symbol | PTEN |
| Aliases | BZS; MHAM; TEP1; MMAC1; PTEN1; MGC11227; tensin homolog; mutated in multiple advanced cancers 1; MMAC1 phosphatase and tension homolog deleted on chromosome 10 |
| Gene Product | - phosphatase and tensin homolog
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| Category | |
| UniGene |
Hs.253309
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| Summary | This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tension 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. |
| Gene Ontology | |
| Expression | | EST (451 ESTs, 176 libraries) |
| Tissue | Breadth ? |
CPM ? |
| adipose |  | | | blood | | | | bone | | | | brain | | | | cartilage | | | | cervix | | | | colon | | | | ear | | | | eye | | | | germ cell | | | | head and neck | | | | heart | | | | kidney |  | | | liver | | | | lung | | | | lymph node | | | | mammary gland | | | | muscle | | | | nervous | | | | ovary | | | | pancreas | | | | parathyroid | | | | pineal gland | | | | placenta | | | | prostate | | | | skin | | | | stomach | | | | testis | | | | thymus | | | | uncharacterized tissue | | | | uterus | | | | vascular | | | | whole body | | |
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| Evidence | LOH in Kidney Neoplasms
- Velickovic M, Delahunt B, McIver B, Grebe SK Intragenic PTEN/MMAC1 loss of heterozygosity in conventional (clear-cell)renal cell carcinoma is associated with poor patient prognosis. Mod Pathol 2002 May;15(5):479-85.
- Sukosd F, Digon B, Fischer J, Pietsch T, Kovacs G Allelic loss at 10q23.3 but lack of mutation of PTEN/MMAC1 in chromophoberenal cell carcinoma. Cancer Genet Cytogenet 2001 Jul 15;128(2):161-3.
- Alimov A, Li C, Gizatullin R, Fredriksson V, Sundelin B, Klein G, Zabarovsky E, Bergerheim U, Alimov A, Li C, Gizatullin R, Fredriksson V, Sundelin B, Klein G, Zabarovsky E, Bergerheim U Somatic mutation and homozygous deletion of PTEN/MMAC1 gene of 10q23 inrenal cell carcinoma. Anticancer Res 1999 Sep-Oct;19(5B):3841-6.
Mutation in Kidney Neoplasms
- Sukosd F, Digon B, Fischer J, Pietsch T, Kovacs G Allelic loss at 10q23.3 but lack of mutation of PTEN/MMAC1 in chromophoberenal cell carcinoma. Cancer Genet Cytogenet 2001 Jul 15;128(2):161-3.
- Kondo K, Yao M, Kobayashi K, Ota S, Yoshida M, Kaneko S, Baba M, Sakai N, Kishida T, Kawakami S, Uemura H, Nagashima Y, Nakatani Y, Hosaka M, Kondo K, Yao M, Kobayashi K, Ota S, Yoshida M, Kaneko S, Baba M, Sakai N, Kishida T, Kawakami S, Uemura H, Nagashima Y, Nakatani Y, Hosaka M PTEN/MMAC1/TEP1 mutations in human primary renal-cell carcinomas and renalcarcinoma cell lines. Int J Cancer 2001 Jan 15;91(2):219-24.
Mutation in System Syndrom with Kidney Involvment
- Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Auge J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attie-Bitach T, Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Auge J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attie-Bitach T PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germlinemosaicism. Eur J Hum Genet 2000 Nov;8(11):820-6.
Other key publications related to this gene
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