Tuberin - CISMeF

Preferred Label : Tuberin;

NCIt synonyms : Tuberous Sclerosis 2 Protein; TSC2;

NCIt definition : Tuberin (1807 aa, 201 kDa) is encoded by the human TSC2 gene. This protein plays a role in the activation of the small GTPase RHEB and the mTORC1 protein kinase complex.;

NCI Metathesaurus CUI : CL963350;

Details

Origin ID

C17913;

UMLS CUI

C4742141;

Automatic exact mappings (from CISMeF team)
- TSC complex subunit 2 [ORDO Gene]
- Tsc complex subunit 2 [OMIM gene]
OMIM relation
- Tsc complex subunit 2 [OMIM gene]
See also inter- (CISMeF)
- Tuberous sclerosis 2 [OMIM Phenotype]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- TSC2 protein, human [MeSH Supplementary Concept]
- Tuberous Sclerosis Complex 2 Protein [MeSH Descriptor]
- tuberous sclerosis complex 2 protein [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Signaling Pathway Gene [NCIt concept]
- TSC2 Gene [NCIt concept]
gene_product_has_biochemical_function
- Ligand Binding Protein [NCIt concept]
gene_product_is_element_in_pathway
- Gene Expression Regulation by Vitamin D Receptor Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- LKB1 Signaling Pathway [NCIt concept]
- mTOR Signaling Pathway BioCarta [NCIt concept]
- mTOR Signaling Pathway KEGG [NCIt concept]
- mTOR Signaling Pathway PID [NCIt concept]
- p38 MAPK/MAPKAP Signaling Pathway [NCIt concept]
- p53 Effector Pathway [NCIt concept]
- p53 Signaling Pathway KEGG [NCIt concept]
gene_product_malfunction_associated_with_disease
- Tuberous Sclerosis [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Adhesion Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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