Bbs2 - Bardet-Biedl syndrome 2 Gene

Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Predicted to be involved in several processes, including negative regulation of appetite by leptin-mediated signaling pathway; regulation of cilium beat frequency involved in ciliary motility; and visual perception. Predicted to act upstream of or within several processes, including blood vessel diameter maintenance; brain development; and cilium assembly. Predicted to be located in microvillus and stereocilium. Predicted to be part of BBSome. Predicted to be active in several cellular components, including ciliary basal body; motile cilium; and neuron projection. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; obesity; and retinitis pigmentosa 74. Orthologous to human BBS2 (Bardet-Biedl syndrome 2). [provided by Alliance of Genome Resources, Apr 2022]