Disease relevance of SYNJ2

• Homozygous mutations were found in the synaptojanin 2 (SYNJ2) and the cleft lip and palate CLPTM1 genes [1].
• Role of synaptojanin 2 in glioma cell migration and invasion [2].

High impact information on SYNJ2

• We have previously identified synaptojanin 2, a phosphoinositide phosphatase, as an effector of Rac1 [2].
• These results suggest that synaptojanin 2 contributes to the role of Rac1 in cell invasion and migration by regulating the formation of invadopodia and lamellipodia [2].
• Synaptojanin 2 directly and specifically interacts with Rac1 in a GTP-dependent manner [3].
• Thus, these results suggest that synaptojanin 2 may mediate the inhibitory effect of Rac1 on endocytosis and could contribute to Rac1-mediated control of cell growth [3].
• Expression of constitutively active Rac1 caused the translocation of synaptojanin 2 from the cytoplasm to the plasma membrane [3].

Biological context of SYNJ2

• Synaptojanin 2, a novel Rac1 effector that regulates clathrin-mediated endocytosis [3].

Anatomical context of SYNJ2

• These results indicate that Syn 2 is a target of autoreactive HCL-specific T cells [4].
• Besides, the Syn 2-expressing cell line AML193, with the introduced restrictive HLA-DPw4 molecules, was recognized by the HCL-specific T-cell clone [4].
• Both Northern and Western blot analyses showed that Syn 2 expression was increased in HCL samples compared to other B cells [4].
• Since Syn 2 is a phosphatidylinositol 4,5-biphosphatase involved in cell growth and rearrangement of actin filaments, the increased Syn 2 expression may correlate with the disease etiology or the characteristic morphologic alterations caused by the disease [4].

References