DeCS

Descriptor English:

Tuberous Sclerosis Complex 2 Protein

Descriptor Spanish:

Proteína 2 del Complejo de la Esclerosis Tuberosa

Spanish from Spain

Descriptor	proteína 2 del complejo de esclerosis tuberosa
Entry term(s)	proteína 2 del complejo de la esclerosis tuberosa tuberina
Scope note:	Proteína de señalización intracelular y supresora tumoral que forma un complejo con la PROTEÍNA 1 DEL COMPLEJO DE ESCLEROSIS TUBEROSA (TSC1) y con otros factores de señalización para regular negativamente MTORC1 e influir en el crecimiento y la proliferación celulares. También puede actuar como proteína activadora de GTPASA (GAP) para la RHEB GTPASA para activar mTORC1 independientemente de su papel en el complejo. Desde el punto de vista estructural, interacciona con la TSC1 por medio de su extremo N, que también contiene una región superenrollada y de cremallera de leucina. También tiene múltiples sitios de fosforilación para diferentes cinasas de señalización celular, una región superenrollada central, un dominio GAP carboxiterminal y un dominio de unión a CALMODULINA. Las mutaciones del gen TSC2 se asocian a ESCLEROSIS TUBEROSA.

Descriptor Portuguese:

Proteína 2 do Complexo Esclerose Tuberosa

Descriptor French:

Protéine-2 du complexe de la sclérose tubéreuse

Entry term(s):

Tuberin
Tuberous Sclerosis 2 Protein

Tree number(s):

D12.644.360.938
D12.776.476.935
D12.776.624.776.769

RDF Unique Identifier:

https://id.nlm.nih.gov/mesh/D000077005

Scope note:

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.

Allowable Qualifiers:

AD administration & dosage
AE adverse effects
AG agonists
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
DF deficiency
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine

Concept UI	M0239300
Scope note	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.
Preferred term	Tuberous Sclerosis Complex 2 Protein
Entry term(s)	Tuberin Tuberous Sclerosis 2 Protein

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