2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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15PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETransporter
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcentrioleciliary transition zoneciliary basal body
Based on limited published evidence, CPLANE2 is required for efficient primary cilia initiation by regulating late-stage cilia assembly steps, including mother centriole maturation and ciliary vesicle development 1. The protein facilitates axoneme extension through GTP-dependent interactions with CPLANE complex members and transition zone protein Fam92 1. CPLANE2 variants cause human ciliopathy presenting as Oral-Facial-Digital Syndrome, disrupting basal body docking and intraflagellar transport protein recruitment 1. The protein localizes to ciliary basal bodies and transition zones, regulating vesicle fusion and axoneme assembly through GTPase signaling.
1
CPLANE2/RSG1 variants cause human ciliopathy; protein required for basal body docking, intraflagellar transport recruitment, and transition zone architecture through GTP-dependent binding to CPLANE and Fam92
PMID: 39386566⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
No pathogenic variants reported on ClinVar for this gene.
No tissue expression data available for this gene.