Synj2-KO Mouse

Synj2, or synaptojanin 2, is an inositol polyphosphate phosphatase. It functions in recycling neurotransmitter vesicles, is implicated in spermatogenesis [8], and also plays a role in regulating cell proliferation and apoptosis via dephosphorylating plasma membrane phosphoinositides [9]. It is associated with pathways like protein digestion and absorption, extracellular matrix-receptor interaction, and may be involved in the regulation of the PI3K/AKT signalling pathway [1,7].

Studies have shown that SYNJ2 is significantly upregulated in various cancers such as lung squamous cell carcinoma (LUSC), papillary thyroid carcinoma (PTC), gastric cancer (GC), and hepatocellular carcinoma (HCC). In LUSC, overexpressed SYNJ2 predicts poor prognosis, and its cancer-promoting effect may be related to certain pathways [1]. In PTC, it may promote progression through angiogenesis and epithelial-mesenchymal transition (EMT) pathways [3]. In GC, SYNJ2 promotes cell metastasis and angiogenesis by up-regulating GRB2 [4]. In HCC, increased SYNJ2 expression level could potentially accelerate the occurrence and development of HCC via metabolic perturbations pathways [9]. Also, a SYNJ2 variant rs9365723 is associated with colorectal cancer risk, especially colon cancer [6]. In neurons, SYNJ2 is involved in transporting Pink1 mRNA to mitochondria to support local mitophagy [2,5].

In conclusion, Synj2 has diverse functions, especially in cancer development and neuronal mitophagy. Research on Synj2 in these disease areas using various models helps in understanding its role, which may potentially lead to new strategies for cancer treatment and management of neuronal mitochondrial-related disorders.