Bardet-Biedl syndrome 2


BBS2 (may also be known as: None)




This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with six other BBS proteins.[provided by RefSeq, Jan 2009]


bbs-2 Caenorhabditis elegans
bbs2 Danio rerio
Bbs2 Mus musculus
Bbs2 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0007288 sperm axoneme assembly biological_process
GO:0008104 protein localization biological_process
GO:0021756 striatum development biological_process
GO:0021766 hippocampus development biological_process
GO:0021987 cerebral cortex development biological_process
GO:0030534 adult behavior biological_process
GO:0032099 negative regulation of appetite biological_process
GO:0032402 melanosome transport biological_process
GO:0033210 leptin-mediated signaling pathway biological_process
GO:0033365 protein localization to organelle biological_process
GO:0040015 negative regulation of multicellular organism growth biological_process
GO:0043001 Golgi to plasma membrane protein transport biological_process
GO:0045444 fat cell differentiation biological_process
GO:0045494 photoreceptor cell maintenance biological_process
GO:0048854 brain morphogenesis biological_process
GO:0050896 response to stimulus biological_process
GO:0060271 cilium morphogenesis biological_process
GO:0060296 regulation of cilium beat frequency involved in ciliary motility biological_process
GO:0005737 cytoplasm cellular_component
GO:0005886 plasma membrane cellular_component
GO:0005932 microtubule basal body cellular_component
GO:0031514 motile cilium cellular_component
GO:0034464 BBSome cellular_component
GO:0060170 cilium membrane cellular_component
GO:0005515 protein binding molecular_function