Protein Domain : IPR016616

Type:  Family Name:  Bardet-Biedl syndrome 2 protein
Description:  Bardet-Biedl syndrome is a member of genetic ciliopathies, but the link between cilia/centrosome deficits and metabolic abnormalities is not completely clear []. Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterised by many features, including retinal degeneration, obesity, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism. BBS genes play an important role in maintaining leptin sensitivity in proopiomelanocortin neurons []. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect.Primary cilia are ubiquitous cellular appendages that provide important sensory and signalling functions and their dysfunction underlies numerous human genetic disorders. The proteins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localisation of G protein-coupled receptors to primary cilia on central neurons. The alteration of signalling caused by mislocalisation of ciliary signalling proteins underlies the BBS phenotype []. Of the 12 known BBS genes, BBS1 is the most commonly mutated [].This entry represents BBS2, which is required for leptin receptor signalling in the hypothalamus []. BBS2 and 4 are also required for the localisation of somatostatin receptor 3 and melanin-concentrating hormone receptor 1 into neuronal cilia []. Short Name:  Bardet-Biedl_syndrome_2_prot
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0 Child Features

0 Contains

2 Cross Referencess

Identifier
PTHR32465:SF0
PIRSF013684

0 Found In

2 GO Annotations

GO Term Gene Name
GO:0035058 IPR016616
GO:0034464 IPR016616

2 Ontology Annotations

GO Term Gene Name
GO:0035058 IPR016616
GO:0034464 IPR016616

0 Parent Features

6 Proteins

DB identifier UniProt Accession Secondary Identifier Organism Name Length
29081 C1N2W8 PAC:27348870 Micromonas pusilla CCMP1545 729  
57477 C1E555 PAC:27400540 Micromonas sp RCC299 727  
Cre06.g257250.t1.1 A0A2K3DMF6 PAC:30779676 Chlamydomonas reinhardtii 708  
Dusal.0044s00008.1.p PAC:33194929 Dunaliella salina 725  
Cz15g12140.t1 PAC:38234951 Chromochloris zofingiensis 703  
Vocar.0002s0661.1.p PAC:32890765 Volvox carteri 523  

5 Publications

First Author Title Year Journal Volume Pages PubMed ID
            18506366
            18317593
            18334641
            18032602
            19150989