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. |
Human BBS2 full length protein - ab157956 from Abcam
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BBS2 / BBS Antibody Blocking Peptide - LS-E21868 from LifeSpan Bioscience
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BBS2 / BBS Antibody Blocking Peptide - LS-E21869 from LifeSpan Bioscience
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Recombinant Human BBS2 Protein - H00000583-P01 from Novus Biologicals
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BBS2 Blocking Peptide - 33R-7948 from Fitzgerald
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BBS2 Blocking Peptide - 33R-3554 from Fitzgerald
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BBS2 - H00000583-P01-10 from Acris Antibodies
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BBS2 - H00000583-P01-25 from Acris Antibodies
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BBS2 fusion protein - ag1662 from Proteintech Group
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BBS2 fusion protein - ag21390 from Proteintech Group
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Recombinant Human Bardet-Biedl syndrome 2 protein(BBS2) - CSB-YP866303HU CSB-EP866303HU CSB-BP866303HU CSB-MP866303HU from Cusabio
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BBS2 Protein - abx163886 from Abbexa
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BBS2 Recombinant Protein Antigen - NBP1-91695PEP from Novus Biologicals
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BBS2 Peptide, Human - M34GP01343H from Creative Peptides
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BBS2 Antibody - SH-A10552 from Novatein Biosciences
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Bardet-Biedl syndrome 2 protein (BBS2), Recombinant Protein - MBS1346020 from MyBioSource
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Recombinant Human BBS2 Protein, GST-tagged - BBS2-107H from Creative Biomart
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