PTEN wt Allele

Preferred Label : PTEN wt Allele;

NCIt synonyms : TEP1; Phosphatase and Tensin Homolog (Mutated in Multiple Advanced Cancers 1) Gene; PTEN1; BZS; MMAC1; CWS1; MHAM; Phosphatase and Tensin Homolog wt Allele; Mutated in Multiple Advanced Cancers 1 Gene; Phosphatase and Tensin Homolog Deleted on Chromosome 10 Gene; DEC; GLM2;

NCIt definition : Human PTEN wild type allele is located in the vicinity of 10q23.3 and is approximately 109 kb in length. This allele, which encodes phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN protein, plays a role in multiple signal transduction pathways. The wild-type allele influences cellular proliferation, survival, adhesion, migration and cell cycle progression through the modulation of the phosphorylation state of both phosphoinositides and focal adhesion kinase. Mutated forms of the gene are found in a large number of cancers.;

GenBank Accession Number : NM_000314;

Détails

Origin ID

C52906;

UMLS CUI

C1705310;

OMIM relation
- Phosphatase and tensin homolog [OMIM gene]
See also inter- (CISMeF)
- Phosphatase and tensin homolog [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Meningioma [NCIt concept]
- Oligodendroglioma [NCIt concept]
- Prostate Carcinoma [NCIt concept]
- Thyroid Gland Follicular Carcinoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q23.31 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Dysplastic Cerebellar Gangliocytoma [NCIt concept]
- Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- PTEN Hamartoma Tumor Syndrome [NCIt concept]
- Vulvar Squamous Cell Carcinoma [NCIt concept]
gene_is_element_in_pathway
- CTCF Pathway [NCIt concept]
- Hepatocyte Growth Factor Receptor Signaling Pathway BioCarta [NCIt concept]
- PTEN-Dependent Cell Cycle Arrest and Apoptosis Pathway [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
- Skeletal Muscle Hypertrophy Pathway [NCIt concept]
- eIF4 Regulation Pathway [NCIt concept]
- mTOR Signaling Pathway BioCarta [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Negative Regulation of G1 Phase [NCIt concept]
- Protein Dephosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Tumor Suppression [NCIt concept]

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