DYNC2I2 (dynein 2 intermediate chain 2) is a critical component of the dynein-2 motor complex required for primary cilium function and intraciliary transport. As a dynein-2 intermediate chain, DYNC2I2 maintains cilia assembly and enables retrograde transport within the cilium 1. The protein localizes to multiple ciliary structures including the axoneme, ciliary basal body, and transition zone, where it interacts with dynein heavy chains and light chains to form functional motor complexes 1. Mutations in DYNC2I2 disrupt dynein-2 assembly and impair multiple ciliary processes, including axoneme extension, intraflagellar transport complex localization, transition zone integrity, and Hedgehog signaling 1. These functional deficits result in ciliopathies characterized by skeletal dysplasia. DYNC2I2 mutations are specifically associated with short-rib thoracic dysplasia and related conditions (Jeune syndrome, short-rib polydactyly syndrome, asphyxiating thoracic dysplasia), where diverse genotypes produce variable phenotypes complicating clinical diagnosis 1. Recently, DYNC2I2 was identified as a prognostic biomarker in cervical cancer 2, though the mechanistic basis for this association requires further investigation. Whole exome sequencing has proven effective for diagnosing DYNC2I2-associated skeletal dysplasias prenatally 3.