Gene Symbol | BBS2 |
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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. |
BBS2 (A-12) - sc-365355 from Santa Cruz Biotechnology
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BBS2 (C-16) - sc-49381 from Santa Cruz Biotechnology
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BBS2 (H-246) - sc-99057 from Santa Cruz Biotechnology
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BBS2 (S-19) - sc-49384 from Santa Cruz Biotechnology
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Anti-BBS2 antibody - ab197159 from Abcam
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Anti-BBS2 antibody - ab68223 from Abcam
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Anti-BBS2 antibody [EPR13183] - ab181134 from Abcam
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Anti-BBS2 antibody - N-terminal - ab86158 from Abcam
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Anti-BBS2 / BBS Antibody (aa315-364) - LS-C135606 from LifeSpan Bioscience
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Anti-BBS2 / BBS Antibody (aa151-200) - LS-C135607 from LifeSpan Bioscience
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Anti-BBS2 / BBS Antibody - LS-C306507 from LifeSpan Bioscience
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BBS2 Antibody - NBP1-69082 from Novus Biologicals
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BBS2 Antibody - NBP1-91695 from Novus Biologicals
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BBS2 Antibody - H00000583-B01P from Novus Biologicals
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BBS2 Polyclonal Antibody - bs-11506R from Bioss
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BBS2 Polyclonal Antibody, ALEXA FLUOR® 350 Conjugated - bs-11506R-A350 from Bioss
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BBS2 Polyclonal Antibody, ALEXA FLUOR® 488 Conjugated - bs-11506R-A488 from Bioss
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BBS2 Polyclonal Antibody, ALEXA FLUOR® 555 Conjugated - bs-11506R-A555 from Bioss
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BBS2 Polyclonal Antibody, ALEXA FLUOR® 647 Conjugated - bs-11506R-A647 from Bioss
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BBS2 Polyclonal Antibody, Cy3 Conjugated - bs-11506R-Cy3 from Bioss
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BBS2 Polyclonal Antibody, Cy5 Conjugated - bs-11506R-Cy5 from Bioss
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BBS2 Polyclonal Antibody, Cy5.5 Conjugated - bs-11506R-Cy5.5 from Bioss
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BBS2 Polyclonal Antibody, Cy7 Conjugated - bs-11506R-Cy7 from Bioss
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BBS2 Polyclonal Antibody, FITC Conjugated - bs-11506R-FITC from Bioss
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BBS2 Polyclonal Antibody, Biotin Conjugated - bs-11506R-Biotin from Bioss
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