Ellis-van Creveld syndrome protein 2 (EVC2)

Ellis-van Creveld syndrome protein 2 (EVC2) is a transmembrane protein that forms a heterodimeric complex with EVC protein and plays a crucial role in regulating Hedgehog signaling from within primary cilia[1][2]. EVC2 specifically localizes to the EvC zone, a specialized ciliary region located immediately distal to the transition zone of primary cilia[1][3]. The protein is essential for proper skeletal development and chondrogenesis, as mutations in EVC2 cause Ellis-van Creveld syndrome and Weyers acrofacial dysostosis, two rare genetic ciliopathies characterized by chondrodysplastic dwarfism and abnormalities in oral cavity development[1][2]. EVC2 contains a Weyers-deleted peptide (W-peptide) that is critical for proper ciliary targeting through interaction with the EFCAB7-IQCE complex via two essential motifs: the FV motif and the RRKKN motif[1]. The protein undergoes post-translational modifications including ubiquitination and sumoylation that regulate its stability and ciliary localization[1]. EVC2 is expressed in growth plate cartilage, perichondrium, ossified tissues, and muscles, and its dysfunction leads to reduced Hedgehog signaling activity and subsequent skeletal defects[2]. The protein's ciliary localization is mutually dependent on EVC protein, and loss of either component results in failure of the complex to properly localize to cilia and impaired Hedgehog signaling[2].

Other names

LimbinLBNWADEllis van Creveld syndrome 2EvC ciliary complex subunit 2