PTEN - phosphatase and tensin homolog Gene
Also Known as BZS; DEC; CWS1; GLM2; MHAM; TEP1; MMAC1; PTEN1; 10q23del; PTENbeta
Species: Homo sapiens
About PTEN
This gene has 18 transcripts (splice variants), 1 gene allele, 138 orthologues, 6 paralogues and is associated with 227 phenotypes. Ubiquitous expression in fat (RPKM 42.8), spleen (RPKM 28.6) and 25 other tissues.
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]
PTEN Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_000314.8 | NP_000305.3 | phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN isoform PTEN |
| NM_001304717.5 | NP_001291646.4 | phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN isoform PTEN-L |
| NM_001304718.2 | NP_001291647.1 | phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN isoform 3 |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in apical plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
24862762 | GOA |
| located in cell projection |
IDA
IDA: Inferred from direct assay
|
10760291 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
9187108 | GOA |
| located in cytoplasmic side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
10940933 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
17218261 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
10760291 | GOA |
PTEN Protein Structure
DSPc: Dual specificity phosphatase, catalytic domain (80 - 159)
PTEN_C2: C2 domain of PTEN tumour-suppressor protein (188 - 349)
- 0
- 100
- 200
- 300
- 403 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN |
|
|
PTEN Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
PTEN | P60484 | FRK | Homo sapiens | P42685 | 19345329 | |
|
Intra
|
PTEN | P60484 | FRK | Homo sapiens | P42685 | 19345329 | |
|
Intra
|
PTEN | P60484 | FRK | Homo sapiens | P42685 | 19345329 | |
|
Intra
|
PTEN | P60484 | BMI1 | Homo sapiens | P35226 | 19903340 | |
|
Intra
|
PTEN | P60484 | BMI1 | Homo sapiens | P35226 | 19903340 | |
|
Intra
|
PTEN | P60484 | MAST3 | Homo sapiens | O60307 | 15951562 | |
|
Intra
|
PTEN | P60484 | MAST3 | Homo sapiens | O60307 | 15951562 | |
|
Intra
|
PTEN | P60484 | NHERF1 | Homo sapiens | O14745 | 16456542 | |
|
Intra
|
PTEN | P60484 | NHERF1 | Homo sapiens | O14745 | 16456542 | |
|
Intra
|
PTEN | P60484 | NHERF1 | Homo sapiens | O14745 | 21804599 | |
|
Intra
|
PTEN | P60484 | DBN1 | Homo sapiens | Q16643 | 23940795 | |
|
Intra
|
PTEN | P60484 | PRDX1 | Homo sapiens | Q06830 | 19369943 | |
|
Intra
|
PTEN | P60484 | PRDX1 | Homo sapiens | Q06830 | 19369943 | |
|
Intra
|
PTEN | P60484 | PPP1CA | Homo sapiens | P62136 | 17274640 | |
|
Intra
|
PTEN | P60484 | AKAP8L | Homo sapiens | Q9ULX6 | 36950384 | |
|
Cross
|
PTEN | P60484 | Mast1 | Mus musculus | Q9R1L5 | 15951562 | |
|
Cross
|
PTEN | P60484 | Mast1 | Mus musculus | Q9R1L5 | 15951562 | |
|
Cross
|
PTEN | P60484 | Nherf2 | Mus musculus | Q9JHL1 | 16456542 | |
|
Cross
|
PTEN | P60484 | Nherf2 | Mus musculus | Q9JHL1 | 16456542 | |
|
Intra
|
PTEN | P60484 | PDGFRB | Homo sapiens | P09619 | 25241761 | |
|
Intra
|
PTEN | P60484 | PDGFRB | Homo sapiens | P09619 | 16456542 | |
|
Intra
|
PTEN | P60484 | PTEN | Homo sapiens | P60484 | 24766807 | |
|
Intra
|
PTEN | P60484 | PTEN | Homo sapiens | P60484 | 24766807 | |
|
Intra
|
PTEN | P60484 | PTEN | Homo sapiens | P60484 | 24766807 | |
|
Intra
|
PTEN | P60484 | PTEN | Homo sapiens | P60484 | 24766807 | |
|
Intra
|
PTEN | P60484 | PTEN | Homo sapiens | P60484 | 24766807 | |
|
Intra
|
PTEN | P60484 | NEDD4 | Homo sapiens | P46934 | 19345329 | |
|
Intra
|
PTEN | P60484 | SPOP | Homo sapiens | O43791 | 24656772 | |
|
Intra
|
PTEN | P60484 | NCOA3 | Homo sapiens | Q9Y6Q9 | 23514585 | |
|
Intra
|
PTEN | P60484 | CDC27 | Homo sapiens | P30260 | 21241890 | |
|
Intra
|
PTEN | P60484 | CDC27 | Homo sapiens | P30260 | 21241890 | |
|
Intra
|
PTEN | P60484 | CDC27 | Homo sapiens | P30260 | 21241890 | |
|
Cross
|
PTEN | P60484 | Magi2 | Rattus norvegicus | O88382 | 15951562 | |
|
Cross
|
PTEN | P60484 | Magi3 | Rattus norvegicus | Q9JK71 | 15951562 | |
|
Cross
|
PTEN | P60484 | Magi3 | Rattus norvegicus | Q9JK71 | 15951562 |
PTEN Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P80286 | PTEN Antibody (YA119) | WB, ICC/IF, IHC-P | Human, Mouse |
| HY-P80286A | PTEN Antibody (YA119)(PBS only) | WB, ICC/IF, IHC-P | Human, Mouse |
| HY-P80475 | Phospho-PTEN (Ser380) Antibody (YA160) | WB, ICC/IF | Human |
| HY-P84417 | PTEN Antibody (YA4114) | WB, ICC/IF, FC, ELISA | Human, Mouse |
| HY-P84417A | PTEN Antibody (YA4114)(PBS only) | WB, ICC/IF, FC, ELISA | Human, Mouse |
| HY-P85820 | PTEN Antibody (YA5512) | IHC-P, WB, ICC/IF, ELISA | Human |
| HY-P86561 | PTEN Antibody (YA6253) | WB, ICC/IF, IP, ELISA | Human, Mouse, Rat |
| HY-P86740 | PTEN Antibody (YA6432) | IHC-P, IHC-F, ICC/IF, IF-Tissue | Human, Mouse, Rat |
| HY-P86740A | PTEN Antibody (YA6432)(PBS only) | IHC-P, IHC-F, ICC/IF, IF-Tissue | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Skin Lipoma |
|
|
| Chromophobe Renal Cell Carcinoma |
|
|
| Nodular Malignant Melanoma |
|
|
| Central Nervous System Benign Neoplasm |
|
|
| Gliosarcoma |
|
|
| Mantle Cell Lymphoma |
|
|
| Mastitis |
|
|
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
|
| Rhabdomyosarcoma |
|
|
| Estrogen-Receptor Positive Breast Cancer |
|
|
| Proteus Syndrome |
|
|
| Anus Cancer |
|
|
| Cholangiocarcinoma |
|
|
| Polymicrogyria |
|
|
| Ovary Adenocarcinoma |
|
|
| High Grade Glioma |
|
|
| Familial Retinoblastoma |
|
|
| Adenomyosis |
|
|
| Skin Carcinoma |
|
|
| Endometrial Serous Adenocarcinoma |
|
|
| Ovarian Serous Cystadenocarcinoma |
|
|
| West Syndrome |
|
|
| Cervical Squamous Cell Carcinoma |
|
|
| Breast Duct Papilloma |
|
|
| Gangliocytoma |
|
|
| Intestinal Benign Neoplasm |
|
|
| Hemimegalencephaly |
|
|
| Diabetes Mellitus |
|
|
| Vulva Cancer |
|
|
| Ovary Epithelial Cancer |
|
|
| Meningioma, Familial |
|
|
| Thyroid Cancer, Nonmedullary, 2 |
|
|
| Juvenile Polyposis Of Infancy |
|
|
| Glioma |
|
|
| Wilms Tumor 1 |
|
|
| Dysgerminoma |
|
|
| Eye Disease |
|
|
| Arteriosclerosis |
|
|
| Anaplastic Oligodendroglioma |
|
|
| Acute Megakaryocytic Leukemia |
|
|
| Hemangioma |
|
|
| Hepatocellular Carcinoma |
|
|
| Macrocephaly/Autism Syndrome |
|
|
| Nevus, Epidermal |
|
|
| Melanoma |
|
|
| Rett Syndrome |
|
|
| Pervasive Developmental Disorder |
|
|
| Glottis Squamous Cell Carcinoma |
|
|
| Primary Cutaneous Amyloidosis |
|
|
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
|
| Breast Carcinoma In Situ |
|
|
| Glioma Susceptibility 2 |
|
|
| Suppression Of Tumorigenicity 12 |
|
|
| Low Grade Glioma |
|
|
| Hereditary Mixed Polyposis Syndrome |
|
|
| High-Grade Astrocytoma |
|
|
| Hypertrophy Of Breast |
|
|
| Immunodeficiency 14a, Autosomal Dominant |
|
|
| Ganglioneuroma |
|
|
| Neurofibromatosis |
|
|
| Anaplastic Astrocytoma |
|
|
| Cervix Carcinoma |
|
|
| Female Reproductive Endometrioid Cancer |
|
|
| Skin Melanoma |
|
|
| Microcephaly |
|
|
| Vacterl Association With Hydrocephalus |
|
|
| Leukemia, Acute Myeloid |
|
|
| Colorectal Cancer |
|
|
| Basal Cell Carcinoma |
|
|
| Megalencephaly |
|
|
| Muir-Torre Syndrome |
|
|
| Cystadenoma |
|
|
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
|
| Spinal Cord Disease |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Breast Cancer |
|
|
| Lynch Syndrome |
|
|
| Multiple Mucosal Neuroma |
|
|
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
|
| Diffuse Astrocytoma |
|
|
| Thyroid Gland Follicular Carcinoma |
|
|
| Neurofibroma |
|
|
| Endometriosis |
|
|
| Gastric Cancer |
|
|
| Melanoma, Uveal |
|
|
| Mixed Oligodendroglioma-Astrocytoma |
|
|
| Pre-Malignant Neoplasm |
|
|
| Carcinosarcoma |
|
|
| Squamous Cell Carcinoma, Head And Neck |
|
|
| Liposarcoma |
|
|
| Cerebral Cavernous Malformations |
|
|
| Premature Menopause |
|
|
| Nasopharyngeal Carcinoma |
|
|
| Colorectal Adenocarcinoma |
|
|
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a |
|
|
| Ovarian Clear Cell Carcinoma |
|
|
| Cystadenocarcinoma |
|
|
| Retinal Cancer |
|
|
| Proteus-Like Syndrome |
|
|
| Thyroid Gland Cancer |
|
|
| Tumor Predisposition Syndrome |
|
|
| Lipoma Of Colon |
|
|
| Melanoma, Cutaneous Malignant 1 |
|
|
| Breast Ductal Carcinoma |
|
|
| Lipomatosis, Multiple |
|
|
| Lung Cancer |
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Thymus Cancer |
|
|
| Bladder Urothelial Carcinoma |
|
|
| Idh-Wildtype Glioblastoma |
|
|
| Mismatch Repair Cancer Syndrome 1 |
|
|
| Mismatch Repair Cancer Syndrome |
|
|
| Nervous System Disease |
|
|
| Benign Ependymoma |
|
|
| Endometriosis Of Ovary |
|
|
| Juvenile Polyposis Syndrome |
|
|
| Ovarian Cystadenocarcinoma |
|
|
| Ductal Carcinoma In Situ |
|
|
| Subependymal Glioma |
|
|
| Endocervical Carcinoma |
|
|
| Uterine Corpus Endometrial Carcinoma |
|
|
| Medulloblastoma |
|
|
| Mixed Glioma |
|
|
| Klippel-Trenaunay-Weber Syndrome |
|
|
| Oropharynx Cancer |
|
|
| Synchronous Bilateral Breast Carcinoma |
|
|
| Brain Cancer |
|
|
| Prostate Cancer |
|
|
| Cardiovascular Organ Benign Neoplasm |
|
|
| Polymicrogyria, Bilateral Frontoparietal |
|
|
| Vaginal Cancer |
|
|
| Ovarian Cancer |
|
|
| Serous Cystadenocarcinoma |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Neurofibromatosis, Type I |
|
|
| Congenital Nervous System Abnormality |
|
|
| Small Cell Carcinoma |
|
|
| Cowden Syndrome |
|
|
| Cerebral Visual Impairment |
|
|
| Small Intestine Cancer |
|
|
| Gastric Adenocarcinoma |
|
|
| Breast Lobular Carcinoma |
|
|
| Prostate Carcinoma In Situ |
|
|
| Lipomatosis |
|
|
| Granulomatous Mastitis |
|
|
| Uterine Benign Neoplasm |
|
|
| Tongue Disease |
|
|
| Infratentorial Cancer |
|
|
| Breast Juvenile Papillomatosis |
|
|
| Uterine Body Mixed Cancer |
|
|
| Malignant Pleural Mesothelioma |
|
|
| Squamous Cell Carcinoma |
|
|
| Estrogen Excess |
|
|
| Rasopathy |
|
|
| Chromosome 10q23 Deletion Syndrome |
|
|
| Autosomal Genetic Disease |
|
|
| Noonan Syndrome 1 |
|
|
| Transitional Cell Carcinoma |
|
|
| Mucosal Melanoma |
|
|
| Lobular Neoplasia |
|
|
| Lung Squamous Cell Carcinoma |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Malignant Ovarian Surface Epithelial-Stromal Neoplasm |
|
|
| Muscle Cancer |
|
|
| Endometrial Cancer |
|
|
| Respiratory System Benign Neoplasm |
|
|
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
|
| Breast Adenocarcinoma |
|
|
| Aplastic Anemia |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| Skin Papilloma |
|
|
| Cowden Syndrome 4 |
|
|
| Brain Glioma |
|
|
| Cell Type Benign Neoplasm |
|
|
| Gliomatosis Cerebri |
|
|
| Vulvar Seborrheic Keratosis |
|
|
| Fallopian Tube Carcinoma |
|
|
| Basal Cell Nevus Syndrome |
|
|
| Peripheral Nervous System Disease |
|
|
| Endometrioid Ovary Carcinoma |
|
|
| Gemistocytic Astrocytoma |
|
|
| Vulvar Disease |
|
|
| Laryngeal Squamous Cell Carcinoma |
|
|
| Fragile X Syndrome |
|
|
| Pilocytic Astrocytoma |
|
|
| Melanoma In Congenital Melanocytic Nevus |
|
|
| Macroglossia |
|
|
| Peutz-Jeghers Syndrome |
|
|
| Papilloma |
|
|
| Mixed Cell Type Cancer |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Cervical Cancer |
|
|
| Uterine Carcinosarcoma |
|
|
| Bile Duct Cancer |
|
|
| Cowden Syndrome 1 |
|
|
| In Situ Carcinoma |
|
|
| Gallbladder Cancer |
|
|
| Pancreatic Cancer |
|
|
| Skin Squamous Cell Carcinoma |
|
|
| Malignant Astrocytoma |
|
|
| Thyroid Tumor |
|
|
| Endocervical Adenocarcinoma |
|
|
| Oligodendroglioma |
|
|
| Thymus Gland Disease |
|
|
| Lung Adenoma |
|
|
| Endometrial Hyperplasia |
|
|
| Teratoma |
|
|
| Glioblastoma |
|
|
| Endometrial Adenocarcinoma |
|
|
| Lung Oat Cell Carcinoma |
|
|
| Subependymal Giant Cell Astrocytoma |
|
|
| Familial Adenomatous Polyposis 2 |
|
|
| Follicular Adenoma |
|
|
| Reproductive Organ Benign Neoplasm |
|
|
| Adenoid Cystic Carcinoma |
|
|
| Non-Syndromic X-Linked Intellectual Disability |
|
|
| Anaplastic Ependymoma |
|
|
| Tongue Carcinoma |
|
|
| Hydrocephalus |
|
|
| Autism Spectrum Disorder |
|
|
| B-Cell Lymphoma |
|
|
| Hydromyelia |
|
|
| Ovarian Disease |
|
|
| Li-Fraumeni Syndrome |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Human Papillomavirus Infectious Disease |
|
|
| Ocular Hypertension |
|
|
| Small Cell Cancer Of The Lung |
|
|
| Esophageal Cancer |
|
|
| Sclerosing Hemangioma |
|
|
| Diffuse Gastric Cancer |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
| Retinitis Pigmentosa |
|
|
| Uterine Corpus Cancer |
|
|
| Skin Disease |
|
|
| Peripheral Nervous System Neoplasm |
|
|
| Neuroendocrine Carcinoma |
|
|
| Sporadic Breast Cancer |
|
|
| Osteoporosis |
|
|
| Bilateral Breast Cancer |
|
|
| Thyroid Gland Anaplastic Carcinoma |
|
|
| Large Intestine Lipoma |
|
|
| Chordoma |
|
|
| Adenocarcinoma |
|
|
| Retinitis Pigmentosa 11 |
|
|
| Papillary Adenofibroma |
|
|
| Autism |
|
|
| Neuroblastoma |
|
|
| Colonic Benign Neoplasm |
|
|
| Vacterl With Hydrocephalus |
|
|
| Giant Cell Glioblastoma |
|
|
| Adult Astrocytic Tumour |
|
|
| Leukemia, Chronic Lymphocytic |
|
|
| Multinodular Goiter |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | PTEN | MGD | MGI:109583 |
| Bos taurus | PTEN | VGNC | VGNC:33496 |
| Felis catus | PTEN | VGNC | VGNC:69138 |
| Rattus norvegicus | PTEN | RGD | RGD:61995 |
| Macaca mulatta | PTEN | VGNC | VGNC:106093 |
| Canis familiaris | PTEN | VGNC | VGNC:45138 |
| Others | PTEN | NCBI |