InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BBS2

Summary

InnateDB Protein

IDBP-32016.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BBS2

Protein Name

Bardet-Biedl syndrome 2

Synonyms

BBS;

Species

Homo sapiens

Ensembl Protein

ENSP00000245157

InnateDB Gene

IDBG-32014 (BBS2)

Protein Structure

UniProt Annotation

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:0000269PubMed:17574030, ECO:0000269PubMed:22072986}.

Subcellular Localization

Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.

Disease Associations

Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269PubMed:11285252, ECO:0000269PubMed:11567139, ECO:0000269PubMed:12677556, ECO:0000269PubMed:12872256, ECO:0000269PubMed:12920096, ECO:0000269PubMed:15666242, ECO:0000269PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed.

Comments

Interactions

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.

Experimentally validated
Total	29 [view]
Protein-Protein	29 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001103	RNA polymerase II repressing transcription factor binding
GO:0005515	protein binding

Biological Process

GO:0007288	sperm axoneme assembly
GO:0007601	visual perception
GO:0008104	protein localization
GO:0010629	negative regulation of gene expression
GO:0014824	artery smooth muscle contraction
GO:0021756	striatum development
GO:0021766	hippocampus development
GO:0021987	cerebral cortex development
GO:0030534	adult behavior
GO:0032402	melanosome transport
GO:0033210	leptin-mediated signaling pathway
GO:0033365	protein localization to organelle
GO:0035058	nonmotile primary cilium assembly
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway
GO:0040015	negative regulation of multicellular organism growth
GO:0040018	positive regulation of multicellular organism growth
GO:0042311	vasodilation
GO:0042384	cilium assembly
GO:0043001	Golgi to plasma membrane protein transport
GO:0044321	response to leptin
GO:0045444	fat cell differentiation
GO:0045494	photoreceptor cell maintenance
GO:0048854	brain morphogenesis
GO:0051216	cartilage development
GO:0060271	cilium morphogenesis
GO:0060296	regulation of cilium beat frequency involved in ciliary motility