CPLANE2
ciliogenesis and planar polarity effector complex subunit 2
- Ensembl:
- ENSG00000291382, ENSG00000132881
- UniProt:
- Q9BU20
- OMIM:
- 620487
- Synonyms:
- C1ORF89, MGC10731, RSG1
Cilia effects upon perturbation of CPLANE2
Ciliopathy associations
- Orofaciodigital Syndrome
- Biliary Atresia
Subcellular localization
basal body, transition zone
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Actin & cytoskeleton regulation
- Protein processing & maturation
- Transition zone
Function
Also called RSG1. Regulator of ciliogenesis, including apical trafficking of basal bodies and the cytoplasmatic localisation and axonemal dy mics of retrograde intraflagellar transport proteins IFT-A protein IFT43 (24192041). Component of the CPLANE complex and acts at increasing the efficiency of primary cilia initiation in a late step. RSG1 activity promotes assembly of the microtubule axoneme after the mother centriole has docked onto the ciliary vesicle and accelerates the rate of elongation of the young axoneme. Only gene identified to date in which null mutations cause the production of fewer primary cilia of normal length and without a detectable defect in ciliary trafficking (29038301)