TSC2 wt Allele

Preferred Label : TSC2 wt Allele;

NCIt synonyms : FLJ43106; TSC4; LAM; Tuberous Sclerosis 2 wt Allele; PPP1R160; Protein Phosphatase 1, Regulatory Subunit 160 Gene;

NCIt definition : Human TSC2 wild type allele is located in the vicinity of 16p13.3 and is approximately 41 kb in length. This allele, which encodes tuberin protein, may be involved in the mediation of vesicular transport. Mutations in this gene are associated with the pathology of tuberous sclerosis complex.;

GenBank Accession Number : NM_000548;

Details

Origin ID

C52952;

UMLS CUI

C1710331;

OMIM relation
- Tsc complex subunit 2 [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_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- TSC2 Gene Inactivation [NCIt concept]
gene_in_chromosomal_location
- 16p13.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- PEComa [NCIt concept]
- Tuberous Sclerosis 2 [NCIt concept]
gene_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_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Signal Transduction [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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