Disease-gene associations mined from literature

Literature associating VAV3 and osteopetrosis

VAV3 [ENSP00000359073]

Vav 3 guanine nucleotide exchange factor; Exchange factor for GTP-binding proteins RhoA, RhoG and, to a lesser extent, Rac1. Binds physically to the nucleotide-free states of those GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for EFNA1- induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity). May be important for integrin-mediated signaling, at least in some cell types. In osteoclasts, along with SYK tyrosine kinase, required for signaling through integrin alpha-v/beta-1 (ITAGV-ITGB1), a crucial event for osteoclast proper cytoskeleton organization and function. This signaling pathway involves RAC1, but not RHO, activation. Necessary for proper wound healing. In the course of wound healing, required for the phagocytotic cup formation preceding macrophage phagocytosis of apoptotic neutrophils. Responsible for integrin beta-2 (ITGB2)-mediated macrophage adhesion and, to a lesser extent, contributes to beta-3 (ITGB3)- mediated adhesion. Does not affect integrin beta-1 (ITGB1)- mediated adhesion (By similarity); Pleckstrin homology domain containing

Synonyms:  VAV3,  VAV3p,  hVAV3,  B7Z3Z5,  E9PMJ5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM