TBC1 domain family member 2B (TBC1D2B)

TBC1 domain family member 2B (TBC1D2B) is a RAB-specific GTPase-activating protein within the Tre2-Bub2-Cdc16 (TBC) domain-containing superfamily. It interacts principally with RAB5, RAB7, RAB22, and RAB31, key regulators of endosomal and lysosomal trafficking and membrane vesicle dynamics. TBC1D2B is important for the sorting and recycling of membrane proteins, in part through modulating endocytosis and stabilization of E-cadherin at cell junctions, and thus impacts processes such as cell-cell adhesion, epithelial-mesenchymal transition, cell invasion, and metastasis. Germline bi-allelic loss-of-function mutations in TBC1D2B cause a progressive neurodevelopmental disorder with neurologic decline, seizures, gingival overgrowth, and jaw anomalies. In cancer biology, TBC1D2B acts as a negative regulator of invasion and metastasis, partly through suppression of Rab22-induced E-cadherin internalization. There are currently no known drugs that target TBC1D2B, and its role is primarily as a molecular regulator rather than a direct therapeutic target.

Other names

KIAA1055NEDSGOTBC1D2b