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Tbio
BBS2
Bardet-Biedl syndrome 2 protein

Protein Summary
Description
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. This gene is a member of the Bardet-Biedl syndrome (BBS) gene ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000245157
  • ENSP00000245157
  • ENSG00000125124

Symbol
  • BBS
  • RP74
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0.95
protein domain
0.85
cell type or tissue
0.79
histone modification site profile
0.78
kinase perturbation
0.76


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 112.23   (req: < 5)
Gene RIFs: 16   (req: <= 3)
Antibodies: 102   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 112.23   (req: >= 5)
Gene RIFs: 16   (req: > 3)
Antibodies: 102   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 24
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
high density lipoprotein cholesterol measurement
1
1
1
7.3
apolipoprotein A 1 measurement
1
1
1
6.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
high density lipoprotein cholesterol measurement
1
7.3
apolipoprotein A 1 measurement
1
6.3
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
Bardet-Biedl syndrome 2
454102
Macaque
Bardet-Biedl syndrome 2
700353
Mouse
MGI:2135267
67378
Rat
RGD:71091
113948
Dog
Bardet-Biedl syndrome 2 [Source:HGNC Symbol;Acc:HGNC:967]
Species
Name
OMA
EggNOG
Inparanoid
Chimp
Bardet-Biedl syndrome 2
Macaque
Bardet-Biedl syndrome 2
Mouse
Rat
Dog
Bardet-Biedl syndrome 2 [Source:HGNC Symbol;Acc:HGNC:967]
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q9BXC9-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (10)
BBSome-mediated cargo-targeting to cilium (R-HSA-5620922)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
BBSome-mediated cargo-targeting to cilium
Reactome
Cargo trafficking to the periciliary membrane
Reactome
Cilium Assembly
Reactome
Organelle biogenesis and maintenance
Name
Explore in Pharos
Explore in Source
BBSome-mediated cargo-targeting to cilium
Cargo trafficking to the periciliary membrane
Cilium Assembly
Organelle biogenesis and maintenance
Protein-Protein Interactions (136)
1 – 10 of 136
BBS5
Tbio
Novelty: 0.04208041
p_int: 0.9999516
p_ni: 0.0000484
Score: 0.998
Data Source: BioPlex,STRINGDB
BBS7
Tbio
Novelty: 0.03611111
p_int: 0.999864052
p_ni: 0.000135948
Score: 0.999
Data Source: BioPlex,STRINGDB
BBS1
Tbio
Novelty: 0.00939439
p_int: 0.999853068
p_ni: 0.000146932
Score: 0.999
Data Source: BioPlex,STRINGDB
LZTFL1
Tbio
Novelty: 0.10578428
p_int: 0.998370303
p_ni: 0.001629697
Score: 0.996
Data Source: BioPlex,STRINGDB
NME3
Tbio
Family: Kinase
Novelty: 0.05947052
p_int: 0.978858598
p_ni: 0.021141402
Score: 0.808
Data Source: BioPlex,STRINGDB
ABLIM3
Tdark
Novelty: 0.28184092
p_int: 0.845277218
p_ni: 0.154722779
p_wrong: 3e-9
Data Source: BioPlex
TRIM44
Tbio
Novelty: 0.00483553
p_int: 0.834399167
p_ni: 0.165600833
Data Source: BioPlex
SPG11
Tbio
Novelty: 0.00697875
p_int: 0.825123842
p_ni: 0.174876158
Data Source: BioPlex
GUCY1B1
Tclin
Family: Enzyme
Novelty: 0.03618378
p_int: 0.821975
p_ni: 0.178025
Score: 0.212
Data Source: BioPlex,STRINGDB
BBS4
Tbio
Novelty: 0.01825873
Score: 0.995
Data Source: STRINGDB
Publication Statistics
PubMed Score  112.23

PubMed score by year
PubTator Score  71.45

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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