Phosphatase and tensin homolog

Preferred Label : Phosphatase and tensin homolog;

Symbol : PTEN;

CISMeF acronym : MMAC1; PTEN; PTEN1;

Type : Gene;

Alternative titles and symbols : Mutated in multiple advanced cancers 1; Phosphatase and tensin homolog deleted on chromosome 10; PTEN1; MMAC1;

Description : The PTEN gene encodes a ubiquitously expressed tumor suppressor dual-specificity phosphatase that antagonizes the PI3K signaling pathway through its lipid phosphatase activity and negatively regulates the MAPK pathway through its protein phosphatase activity (summary by Pezzolesi et al., 2007).;

Ensembl ID : ENSG00000171862;

Prefixed ID : *601728;

Details

Origin ID

601728;

UMLS CUI

C0694888;

Automatic exact mappings (from CISMeF team)
- PTEN wt Allele [NCIt concept]
- Phosphatase and Tensin Homolog Measurement [NCIt concept]
- Phosphatidylinositol 3,4,5-Trisphosphate 3-Phosphatase and Dual-Specificity Protein Phosphatase PTEN [NCIt concept]
- phosphatase and tensin homolog [HGNC gene]
- phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity [GO term]
Currated CISMeF NLP mapping
- PTEN Gene [NCIt concept]
- PTEN gene [LOINC component]
- phosphatase and tensin homolog [ORDO Gene]
HGNC gene
- phosphatase and tensin homolog [HGNC gene]
NCIt concept(s)
- PTEN Gene [NCIt concept]
- PTEN wt Allele [NCIt concept]
- Phosphatidylinositol 3,4,5-Trisphosphate 3-Phosphatase and Dual-Specificity Protein Phosphatase PTEN [NCIt concept]
ORDO concept(s)
- phosphatase and tensin homolog [ORDO Gene]
Phenotypes related
- Cowden syndrome 1 [OMIM Phenotype]
- Glioma susceptibility 2 [OMIM Phenotype]
- Macrocephaly/autism syndrome [OMIM Phenotype]
- Meningioma, familial, susceptibility to [OMIM Phenotype]
- Prostate cancer [OMIM Phenotype]
See also inter- (CISMeF)
- PTEN hamartoma tumor syndrome [ORDO Disease]
- PTEN hamartoma tumor syndrome [DO Concept]
- PTEN hamartoma tumor syndrome [MeSH concept]
- PTEN hamartoma tumor syndrome (disorder) [SNOMED CT concept]
- PTEN wt Allele [NCIt concept]
- hamartoma syndrome, multiple [MeSH Descriptor]
- pten hamartoma tumor syndrome with granular cell tumor [MeSH concept]
- pten hamartoma tumor syndrome with granular cell tumor [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PTEN Gene [NCIt concept]
- PTEN gene [LOINC component]
- phosphatase and tensin homolog [ORDO Gene]
- phosphatase and tensin homolog [HGNC gene]

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