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TBC1 domain family member 2 (TBC1D2)
- Target
- TBC1D2
- Molecular classification
- Enzyme (specifically, GTPase-activating protein/Rab-GAP family), Other (RAB effector protein)
01
Overview
TBC1 domain family member 2 (TBC1D2) is an enzyme belonging to the TBC/RabGAP family that serves as a GTPase-activating protein (GAP) for the small GTPase RAB7A[1][2]. It regulates vesicle trafficking, autophagy, and cell adhesion by acting as a linker between RAC1 and RAB7A, thereby inhibiting cadherin degradation and impacting cell-cell adhesion[1][2]. TBC1D2 plays recognized roles in promoting cancer cell invasion, migration, and metastasis, notably in ovarian cancer, where its overexpression correlates with poor prognosis[3]. It also has been studied as a tumor antigen and investigated for roles in neurodevelopmental disorders, such as pontocerebellar hypoplasia[1]. No currently approved drugs are known to directly target TBC1D2, though its status as an oncogenic driver and prognostic biomarker make it of therapeutic interest[3].
- Other names
- TBC1 domain family member 2ATBC1D2AArmusPARIS1PARIS-1PP8997prostate antigen recognized and identified by SEREX 1
02
Biological functions
Regulation of vesicle-mediated transportGTPase activation (acts as a GTPase-activating protein for RAB7A)Regulation of cell-cell adhesion (through cadherin degradation)Regulation of autophagyRegulation of cell migration and invasionSignal transduction (links Rac1 and Rab7 signaling)
03
Disease associations
Cancer (notably ovarian cancer metastasis and prognosis)Neurodevelopmental disorders (e.g., pontocerebellar hypoplasia)Other (general roles in cell proliferation and invasion)
04
Biomarkers
Potential prognostic biomarker for ovarian cancer (associated with poor prognosis when highly expressed)
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