| Gene Symbol |
BBS2
|
| Entrez Gene |
583
|
| Alt Symbol |
BBS
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Bardet-Biedl syndrome 2
|
| Other Description |
Bardet-Biedl syndrome 2 protein
|
| Swissprots |
Q96SN9 Q96CM0 Q9BXC9
|
| Accessions |
EAW82863 EAW82864 Q9BXC9 AB208905 BAD92142 AF342736 AAK28552 AK027635 BAB55252 AK127290 AK289604 BAF82293 AK309068 AL834176 CAD38873 BC014140 AAH14140 BM982214 DA437930 DB316257 DQ892680 ABM83606 DQ895923 ABM86849 XM_005256080 XP_005256137 XM_005256081 XP_005256138 XM_005256082 XP_005256139 XM_011523251 XP_011521553 XR_933378 XR_933379 XR_933380 NM_031885 NP_114091
|
| Function |
The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.
|
| Subcellular Location |
Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
|
| Tissue Specificity |
Widely expressed.
|