AlphaFold predicted structure
BBS4 · Q96RK4
Mean pLDDT
77.7/ 100
Confident
519 residues
Confidence breakdown
- Very high(≥ 90)58%
- Confident(70–90)18%
- Low(50–70)4%
- Very low(< 50)20%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
BBS4
Chr 15q24.1Bardet-Biedl syndrome 4
- MANE:
- ENST00000268057.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bardet Biedl syndrome
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLimb disorders
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomalRenal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Bardet-Biedl syndrome 4
0.80Bardet-Biedl syndrome
0.78Bardet-Biedl syndrome 1
0.57retinitis pigmentosa
0.48polydactyly
0.46obesity disorder
0.44obesity due to melanocortin 4 receptor deficiency
0.38Obesity
0.37eye disorder
0.37Retinal dystrophy
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
BBSome complex member BBS4
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. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome
Diseases associated with BBS4
Curated MONDO disease pages that list BBS4 among their top associated genes.