|Homo sapiens Gene: BBS2|
|Last Modified||2014-10-13 [Report errors or provide feedback]|
|Gene Name||Bardet-Biedl syndrome 2|
Bardet-Biedl syndrome 2
|Useful resources||Stemformatics EHFPI ImmGen|
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]
|Genomic Location||Chromosome 16:56466836-56520283|
|Number of Interactions||
This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
|UniProt Splice Variant|
|UniGene||Hs.333738 Hs.616713 Hs.732699|
|RNA Seq Atlas||102724038 583|