Ciliogenesis and planar polarity effector complex subunit 2 (CPLANE2)

Ciliogenesis and planar polarity effector complex subunit 2 (CPLANE2) is a protein encoded by the CPLANE2 gene, with key roles in the assembly and initiation of primary cilia, as well as the regulation of planar cell polarity signaling[2][11][1]. It functions as a Ras-related GTPase and is required for a late step in primary cilia initiation, contributing to the final maturation of the mother centriole and ciliary vesicle that permits the extension of the ciliary axoneme[2][11][1][10]. Defects in CPLANE2 are associated with developmental disorders such as Joubert syndrome and Carpenter syndrome[2]. The protein is localized to the centriole, ciliary basal body, and ciliary transition zone, and is involved upstream of processes like axoneme assembly, endocardial cushion fusion, and smoothened signaling regulation[2][9][6]. As of now, CPLANE2 is not considered a direct therapeutic target, and there are no known drugs or established mechanisms of action targeting this protein.

Other names

C1orf89RSG1MGC10731REM2- and Rab-like small GTPase 1Rem/Rab-Similar GTPase 1Ciliogenesis and planar polarity effector 2REM2 and RAB like small GTPase 1Miro domain-containing protein C1orf89