Ciliary BBSome complex subunit 2, middle region; The BBSome (so-named after the association with Bardet-Biedl syndrome) is a complex of 8 subunits that lies at the base of the flagellar microtubule structure. The precise function of the all the individual components in cilia formation is unclear, however they function to promote loading of cargo to the ciliary axoneme. The primary cilium, a slim microtubule-based organelle that projects from the surface of vertebrate cells has crucial roles in vertebrate development and human genetic diseases. Cilia are required for the response to developmental signals, and evidence is accumulating that the primary cilium is specialized for Hedgehog (Hh) signal transduction. Formation of cilia, in turn, is regulated by other signalling pathways, possibly including the planar cell polarity pathway. The connections between cilia and developmental signalling have begun to clarify the basis of human diseases associated with ciliary dysfunction. BBS2 is one of the three Bardet-Biedl syndrome subunits that is required for leptin receptor signalling in the hypothalamus, and BBS2 and 4 are also required for the localization of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia.

                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 58865932   169 DRVLRVLQGSDVTYEIEVPGPPTVLAlhngdgGDSGEGLLFGTSDGRLGLIQitasKPIHKWEIRNDKKrggILCLDSFD 248
Cdd:pfam14783  21 DFDIRVFKGDEIVFEFTETEKVTSLA------TLSGSRFAYALENGTVGVYD----KKQRLWRIKSKNQ---ITALAAYD 87

                          90       100
                  ....*....|....*....|
gi 58865932   249 IMGDGVKDLLVGRDDGMVEV 268
Cdd:pfam14783  88 INGDGVKELIVGWSNGKVDA 107

Ciliary BBSome complex subunit 2, middle region; The BBSome (so-named after the association with Bardet-Biedl syndrome) is a complex of 8 subunits that lies at the base of the flagellar microtubule structure. The precise function of the all the individual components in cilia formation is unclear, however they function to promote loading of cargo to the ciliary axoneme. The primary cilium, a slim microtubule-based organelle that projects from the surface of vertebrate cells has crucial roles in vertebrate development and human genetic diseases. Cilia are required for the response to developmental signals, and evidence is accumulating that the primary cilium is specialized for Hedgehog (Hh) signal transduction. Formation of cilia, in turn, is regulated by other signalling pathways, possibly including the planar cell polarity pathway. The connections between cilia and developmental signalling have begun to clarify the basis of human diseases associated with ciliary dysfunction. BBS2 is one of the three Bardet-Biedl syndrome subunits that is required for leptin receptor signalling in the hypothalamus, and BBS2 and 4 are also required for the localization of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia.

                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 58865932   169 DRVLRVLQGSDVTYEIEVPGPPTVLAlhngdgGDSGEGLLFGTSDGRLGLIQitasKPIHKWEIRNDKKrggILCLDSFD 248
Cdd:pfam14783  21 DFDIRVFKGDEIVFEFTETEKVTSLA------TLSGSRFAYALENGTVGVYD----KKQRLWRIKSKNQ---ITALAAYD 87

                          90       100
                  ....*....|....*....|
gi 58865932   249 IMGDGVKDLLVGRDDGMVEV 268
Cdd:pfam14783  88 INGDGVKELIVGWSNGKVDA 107

Ciliary BBSome complex subunit 2, middle region; The BBSome (so-named after the association with Bardet-Biedl syndrome) is a complex of 8 subunits that lies at the base of the flagellar microtubule structure. The precise function of the all the individual components in cilia formation is unclear, however they function to promote loading of cargo to the ciliary axoneme. The primary cilium, a slim microtubule-based organelle that projects from the surface of vertebrate cells has crucial roles in vertebrate development and human genetic diseases. Cilia are required for the response to developmental signals, and evidence is accumulating that the primary cilium is specialized for Hedgehog (Hh) signal transduction. Formation of cilia, in turn, is regulated by other signalling pathways, possibly including the planar cell polarity pathway. The connections between cilia and developmental signalling have begun to clarify the basis of human diseases associated with ciliary dysfunction. BBS2 is one of the three Bardet-Biedl syndrome subunits that is required for leptin receptor signalling in the hypothalamus, and BBS2 and 4 are also required for the localization of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia.

                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 58865932   169 DRVLRVLQGSDVTYEIEVPGPPTVLAlhngdgGDSGEGLLFGTSDGRLGLIQitasKPIHKWEIRNDKKrggILCLDSFD 248
Cdd:pfam14783  21 DFDIRVFKGDEIVFEFTETEKVTSLA------TLSGSRFAYALENGTVGVYD----KKQRLWRIKSKNQ---ITALAAYD 87

                          90       100
                  ....*....|....*....|
gi 58865932   249 IMGDGVKDLLVGRDDGMVEV 268
Cdd:pfam14783  88 INGDGVKELIVGWSNGKVDA 107