Synj2-flox Mouse

Synj2, or synaptojanin 2, encodes an inositol polyphosphate phosphatase. It functions in recycling neurotransmitter vesicles and is implicated in spermatogenesis [8]. It also has a role in the regulation of cell proliferation and apoptosis via dephosphorylating plasma membrane phosphoinositides [10].

In various cancers, SYNJ2 shows significant associations. In lung squamous cell carcinoma (LUSC), it is upregulated at both mRNA and protein levels, predicting poor prognosis, and its cancer-promoting effect may be related to protein digestion and absorption and extracellular matrix-receptor interaction [1]. In papillary thyroid carcinoma (PTC), it is highly expressed, potentially promoting PTC progression through angiogenesis and epithelial-mesenchymal transition (EMT) pathways, and patients with high SYNJ2 expression show higher sensitivity to common drugs [3]. In gastric cancer, SYNJ2 promotes cell metastasis and angiogenesis by up-regulating GRB2 [4]. A SYNJ2 variant rs9365723 is associated with colorectal cancer risk, especially colon cancer [6]. In hepatocellular carcinoma (HCC), upregulated SYNJ2 can be used for predicting prognosis and may accelerate HCC occurrence and development via metabolic perturbation pathways [10]. In breast cancer, increased SYNJ2 in primary tumours correlates with invasive disease and reduced survival [9].

Also, in neurons, SYNJ2 is involved in transporting Pink1 mRNA to mitochondria for local mitophagy, and insulin signalling can regulate this process through AMPK-mediated phosphorylation of SYNJ2BP which interacts with SYNJ2 [2,5]. SYNJ2 is expressed in the murine small and large intestine, with its mRNA levels increasing with age in the colon, and may participate in intestinal pathology [7].

In conclusion, SYNJ2 is an important gene involved in multiple biological functions and disease processes. Its role in cancer, neuronal mitophagy, and intestinal functions has been revealed through various studies. Understanding SYNJ2 can provide insights into disease mechanisms and potential therapeutic targets.