Seizure related 6 homolog like 2 (SEZ6L2)

Seizure related 6 homolog like 2 (SEZ6L2) is a type I transmembrane protein encoded by the SEZ6L2 gene located on chromosome 16p11.2, a locus associated with neuropsychiatric and developmental disorders[2][3][6]. The protein is expressed on the cell surface, especially in the central nervous system, where it regulates neuronal differentiation, neurite outgrowth, intracellular protein trafficking, synapse numbers, and dendritic morphology[3][5]. Structurally, SEZ6L2 contains five SUSHI (complement control protein, also known as SCR) domains and three CUB domains, motifs implicated in cell–cell interactions, development, and complement regulation[1][5]. SEZ6L2 has been experimentally shown to inhibit complement activation by accelerating C3 convertase decay and by serving as a cofactor for Factor I-mediated cleavage of C3b, thus limiting complement-mediated cell surface opsonization[5]. SEZ6L2 is upregulated in most non-small cell lung cancers, serving as a prognostic marker wherein high expression is correlated with reduced tumor-specific survival, and has also been detected in hepatocellular carcinoma[1]. Genetic associations and functional studies link SEZ6L2 and its family members to neurological and psychiatric disorders, especially due to its presence in neurodevelopmental gene clusters such as 16p11.2[3][6]. At present, SEZ6L2 is considered a promising biomarker and potential therapeutic target, especially in oncology and neuroscience, but no clinically approved drugs directly target SEZ6L2.

Other names

Seizure 6-like protein 2PSK-1FLJ90517UNQ1903/PRO4349BSRPAType I transmembrane receptor (seizure-related protein)

Not applicable (targeted drugs not established). Experimental: Modulation of complement activity (target for complement pathway intervention, theoretical/experimental only).