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Tbio
BBS7
Bardet-Biedl syndrome 7 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 encodes one of eight proteins that form the BBSome ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000264499
  • ENSP00000264499
  • ENSG00000138686
  • ENST00000506636
  • ENSP00000423626

Symbol
  • BBS2L1
  • BBS2L1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0.84
histone modification site profile
0.82
tissue sample
0.72
cellular component
0.71
microRNA
0.58


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for 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
Thumbnail image for 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
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
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: 26.39   (req: < 5)
Gene RIFs: 9   (req: <= 3)
Antibodies: 200   (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: 26.39   (req: >= 5)
Gene RIFs: 9   (req: > 3)
Antibodies: 200   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 19
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 (6)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean corpuscular volume
3
3
3
94.2
mean corpuscular hemoglobin concentration
2
2
2
93.8
mean reticulocyte volume
1
1
1
85.1
1
1
1
71.5
BMI-adjusted hip circumference
1
3
3
66.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean corpuscular volume
3
94.2
mean corpuscular hemoglobin concentration
2
93.8
mean reticulocyte volume
1
85.1
1
71.5
BMI-adjusted hip circumference
3
66.3
Orthologs (15)
1 – 5 of 15
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
Bardet-Biedl syndrome 7
VGNC:569
461468
Macaque
Bardet-Biedl syndrome 7
707478
Mouse
MGI:1918742
71492
Rat
RGD:1309264
361930
Dog
Bardet-Biedl syndrome 7
476092
Species
Name
OMA
EggNOG
Inparanoid
Chimp
Bardet-Biedl syndrome 7
Macaque
Bardet-Biedl syndrome 7
Mouse
Rat
Dog
Bardet-Biedl syndrome 7
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q8IWZ6-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (9)
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:  1
Score:  0.999
Data Source:  BioPlex,STRINGDB
BBS9
Tbio
Novelty:  0.01879869
p_int:  0.999999789
p_ni:  2.11e-7
Score:  0.998
Data Source:  BioPlex,STRINGDB
BBS1
Tbio
Novelty:  0.00939439
p_int:  0.999999708
p_ni:  2.92e-7
Score:  0.998
Data Source:  BioPlex,STRINGDB
CNKSR3
Tbio
Family:  Enzyme
Novelty:  0.14999986
p_int:  0.999998885
p_ni:  0.000001112
p_wrong:  3e-9
Data Source:  BioPlex
BBS4
Tbio
Novelty:  0.01825873
p_int:  0.999998505
p_ni:  0.000001495
Score:  0.997
Data Source:  BioPlex,STRINGDB
ZNF655
Tbio
Family:  TF
Novelty:  0.02852796
p_int:  0.99999833
p_ni:  0.000001329
p_wrong:  3.42e-7
Score:  0.189
Data Source:  BioPlex,STRINGDB
BBS10
Tbio
Novelty:  0.03343798
p_int:  0.99999556
p_ni:  0.000004424
p_wrong:  1.7e-8
Score:  0.993
Data Source:  BioPlex,STRINGDB
CAMSAP3
Tbio
Novelty:  0.04216784
p_int:  0.999989348
p_ni:  0.000010645
p_wrong:  7e-9
Score:  0.169
Data Source:  BioPlex,STRINGDB
BBS2
Tbio
Novelty:  0.00835161
p_int:  0.999864052
p_ni:  0.000135948
Score:  0.999
Data Source:  BioPlex,STRINGDB
TTC8
Tbio
Novelty:  0.08520636
p_int:  0.999831299
p_ni:  0.000168701
Score:  0.994
Data Source:  BioPlex,STRINGDB
Publication Statistics
PubMed Score  26.39

PubMed score by year
PubTator Score  12.89

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