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Medical Subject Headings
| Id | http://purl.bioontology.org/ontology/MESH/D000077005
http://purl.bioontology.org/ontology/MESH/D000077005
|
|---|---|
| Preferred Name | Tuberous Sclerosis Complex 2 Protein |
| Definitions |
An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN (TSC1) and other signaling factors to negatively regulate MTORC1 and affect cell growth and proliferation. It can also function as GTPASE-ACTIVATING PROTEIN (GAP) for RHEB GTPASE to activate mTORC1 independent of its role in the complex. Structurally, it interacts with TSC1 through its N-terminus, which also contains a leucine zipper and coiled-coil region. It also has multiple phosphorylation sites for different cell signaling kinases, a central coiled-coil region, a C-terminal GAP domain and CALMODULIN binding domain. Mutations in the TSC2 gene are associated with TUBEROUS SCLEROSIS.
|
| Synonyms |
Tuberous Sclerosis 2 Protein
Tuberin
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN (TSC1) and other signaling factors to negatively regulate MTORC1 and affect cell growth and proliferation. It can also function as GTPASE-ACTIVATING PROTEIN (GAP) for RHEB GTPASE to activate mTORC1 independent of its role in the complex. Structurally, it interacts with TSC1 through its N-terminus, which also contains a leucine zipper and coiled-coil region. It also has multiple phosphorylation sites for different cell signaling kinases, a central coiled-coil region, a C-terminal GAP domain and CALMODULIN binding domain. Mutations in the TSC2 gene are associated with TUBEROUS SCLEROSIS. |
|---|---|
| altLabel |
Tuberous Sclerosis 2 Protein
Tuberin
|
| prefLabel | Tuberous Sclerosis Complex 2 Protein
|
| Machine permutation | 2019; TUBEROUS SCLEROSIS COMPLEX 2 PROTEIN was indexed under TUMOR SUPPRESSOR PROTEINS 2006-2018 and under REPRESSOR PROTEINS 1994-2005
|
| HN | 2019 (1994)
|
| Mapped from | |
| type | |
| tui |
T116
T123
|
| TERMUI |
T000936106
T000936107
T000936108
|
| TH |
NLM (1994)
NLM (2006)
|
| MMR | 20190101
|
| notation | D000077005
|
| Semantic type UMLS property | |
| Inverse of AQ |
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|
| DX | 20190101
|
| cui | C0291147
|
| DC | 1
|
| MN |
D12.776.476.935
D12.776.624.776.769
D12.644.360.938
|
| AQL | AD AE AG AI AN BI BL CF CH CL CS DE DF EC GE HI IM IP ME PD PH PK PO RE SD ST TO TU UL UR
|
| Inverse of RB | 0
|
| MDA | 20171117
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |