Bardet-Biedl syndrome 2 protein (BBS2)

Bardet-Biedl syndrome 2 protein (BBS2) is a core subunit of the BBSome, an octameric protein complex essential for primary cilia function and homeostasis[1][2][4][5][6]. The BBSome acts as a cargo adaptor, sorting and trafficking specific membrane proteins—such as G-protein coupled receptors (GPCRs)—to and from the ciliary membrane via the intraflagellar transport system[2][5][6]. BBS2 forms a dimer with BBS7 via a coiled-coil interaction and interacts with BBS9 through its α-helical domain, forming a critical assembly intermediate of the BBSome complex[1][4]. Mutations in BBS2 disrupt BBSome assembly, resulting in defective ciliary transport and the clinical manifestations of Bardet-Biedl syndrome, a genetically heterogeneous ciliopathy presenting with retinal dystrophy, obesity, polydactyly, renal abnormalities, and hypogenitalism, among other features[1][3][5]. Although fundamental to ciliary protein transport, there are no known pharmacological agents directly targeting BBS2 as a therapeutic approach. Pathogenic variants in BBS2 serve as diagnostic markers for Bardet-Biedl syndrome in clinical genetics[1][5].

Other names

BBSome complex member BBS2BBS2Bardet-Biedl syndrome 2 proteinBBSRP74