POM121L2 is a transmembrane nucleoporin localized to the nuclear pore complex (NPC) with structural roles in nuclear transport processes. Based on GO annotations, POM121L2 functions as a structural constituent of the NPC and participates in bidirectional nucleocytoplasmic transport, including nuclear localization sequence binding, protein import into nucleus, and RNA export from nucleus. Regarding disease relevance, POM121L2 has emerged as a genetic risk locus in multiple psychiatric and neurological conditions. A large family-based replication study identified POM121L2 as a novel schizophrenia susceptibility gene (P = 3.51 × 10⁻⁷) through integration of GWAS meta-analysis with independent family cohorts 1. More recently, POM121L2 was identified as a European ancestry-specific genome-wide significant locus for suicidal thoughts and behaviors in a study of over 633,000 US military veterans, with replication support 2. Beyond psychiatric disease, POM121L2 methylation patterns were examined in breast cancer diagnostics, with altered methylation detected in small breast tumors compared to healthy tissue 3. Additionally, a polymorphism (rs12305038) in POM121L2 showed preliminary association with opioid-induced nausea and vomiting in cancer patients, though replication was inconsistent across independent cohorts 4. These findings suggest POM121L2 variants may contribute to psychiatric disease susceptibility, though clinical significance remains to be established.