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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BBS9
Bardet-Biedl syndrome 9
Chromosome 7 Β· 7p14.3
NCBI Gene: 27241Ensembl: ENSG00000122507.21HGNC: HGNC:30000UniProt: A0A090N7W2
48PubMed Papers
21Diseases
0Drugs
149Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
BBSomeprotein bindingciliumcentriolar satelliteBardet-Biedl syndrome 9Bardet-Biedl syndromeBardet-Biedl syndrome 1Retinal dystrophy
✦AI Summary

BBS9 is a core structural component of the BBSome complex, an eight-subunit coat complex essential for protein trafficking to primary cilia 1. BBS9 associates with BBS2 and BBS7 through coiled-coil interactions to form a flattened triangular subcomplex architecture 2. The BBSome functions by binding RAB3IP/Rabin8, a guanosine exchange factor for Rab8, facilitating Rab8-GTP localization to cilia and promoting vesicle docking and fusion at the ciliary base 3. BBS9 knockdown in zebrafish and mammalian cells results in reduced cilia number and length, developmental abnormalities in retina and brain, and hydrocephalus 3. Loss-of-function BBS9 mutations cause Bardet-Biedl syndrome, an autosomal recessive disorder characterized by retinopathy, obesity, polydactyly, renal and cardiac malformations, intellectual disability, and hypogonadism 14. BBS9 variants also associate with nonsyndromic craniosynostosis through impaired primary cilia formation in suture osteogenic cells 56. Beyond genetic disease, circRNA derived from BBS9 acts as a miRNA sponge regulating apoptosis in chr7 obstructive pulmonary disease and ferroptosis in lung adenocarcinoma 78. These findings establish BBS9 as critical for ciliogenesis-dependent organ development and potential therapeutic target in ciliopathies and respiratory diseases.

Sources cited
1
BBS9 identification as a novel Bardet-Biedl syndrome gene and phenotypic features of BBS including obesity, retinopathy, polydactyly, and renal malformations
PMID: 16380913
2
Molecular architecture of BBSome 2-7-9 subcomplex showing BBS9 association with BBS2-BBS7 dimer and disruption by BBS2 R632P mutation
PMID: 31530639
3
BBS9 knockdown causes cilia defects, reduced cilia number and length, and developmental abnormalities in retina, brain, and hydrocephalus
PMID: 22479622
4
Novel homozygous BBS9 truncating mutation causing Bardet-Biedl syndrome with retinitis pigmentosa, polydactyly, obesity, and intellectual disability
PMID: 34212515
5
BBS9 expression alterations in nonsyndromic craniosynostosis affecting primary cilia formation in suture mesenchymal cells
PMID: 29674126
6
BBS9 variants associated with nonsyndromic craniosynostosis and requirement for ciliogenesis during suture development
PMID: 30651579
7
CircRNA BBS9 acts as miRNA-103a-3p sponge regulating apoptosis in chronic obstructive pulmonary disease
PMID: 37442983
8
Circ_BBS9 acts as tumor suppressor in lung adenocarcinoma through IFIT3 interaction and ferroptosis modulation
PMID: 39139574
Disease Associationsβ“˜21
Bardet-Biedl syndrome 9Open Targets
0.80Strong
Bardet-Biedl syndromeOpen Targets
0.71Strong
Bardet-Biedl syndrome 1Open Targets
0.55Moderate
Retinal dystrophyOpen Targets
0.51Moderate
polydactylyOpen Targets
0.46Moderate
obesityOpen Targets
0.44Moderate
BBS9-related ciliopathyOpen Targets
0.41Moderate
Abnormality of the eyeOpen Targets
0.41Moderate
eye diseaseOpen Targets
0.37Weak
open-angle glaucomaOpen Targets
0.34Weak
genetic disorderOpen Targets
0.34Weak
respiratory system neoplasmOpen Targets
0.32Weak
facial morphologyOpen Targets
0.30Weak
kidney diseaseOpen Targets
0.30Weak
glaucomaOpen Targets
0.29Weak
leprosyOpen Targets
0.29Weak
adolescent idiopathic scoliosisOpen Targets
0.28Weak
male infertilityOpen Targets
0.28Weak
isolated scaphocephalyOpen Targets
0.27Weak
retinopathyOpen Targets
0.27Weak
Bardet-Biedl syndrome 9UniProt
Pathogenic Variants149
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter)Pathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 64
NM_198428.3(BBS9):c.1329+1738C>TLikely pathogenic
BBS9-related disorder|Bardet-Biedl syndrome
β˜…β˜…β˜†β˜†2026
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)Pathogenic
Bardet-Biedl syndrome|Retinal vascular dystrophy|BBS9-related disorder|Bardet-Biedl syndrome 9
β˜…β˜…β˜†β˜†2026β†’ Residue 75
NM_198428.3(BBS9):c.1789+1G>APathogenic
Bardet-Biedl syndrome 9|not provided|BBS9-related disorder|Bardet-Biedl syndrome|Pancreatic adenocarcinoma
β˜…β˜…β˜†β˜†2025
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)Pathogenic
Bardet-Biedl syndrome 9|not provided|Bardet-Biedl syndrome 1|Bardet-Biedl syndrome|BBS9-related disorder|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 626
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter)Pathogenic
not provided|Bardet-Biedl syndrome 9|Bardet-Biedl syndrome|BBS9-related disorder|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 374
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)Pathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome|Nephronophthisis 4
β˜…β˜…β˜†β˜†2025β†’ Residue 598
NM_198428.3(BBS9):c.214del (p.Val72fs)Pathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome|BBS9-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 72
NM_198428.3(BBS9):c.442+1G>CPathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome
β˜…β˜…β˜†β˜†2025
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 9|BBS9-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 322
NM_198428.3(BBS9):c.310del (p.Cys104fs)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 9|BBS9-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 104
NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)Pathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 66
NM_198428.3(BBS9):c.263+1G>APathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 9|BBS9-related disorder
β˜…β˜…β˜†β˜†2025
NM_198428.3(BBS9):c.1283_1286del (p.Thr428fs)Pathogenic
Bardet-Biedl syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 428
NM_198428.3(BBS9):c.1693+1G>APathogenic
not provided|Bardet-Biedl syndrome 9|BBS9-related disorder|Bardet-Biedl syndrome
β˜…β˜…β˜†β˜†2025
NM_198428.3(BBS9):c.1789+1G>CPathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome
β˜…β˜…β˜†β˜†2024
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 9
β˜…β˜…β˜†β˜†2024β†’ Residue 492
NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 9|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 521
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)Pathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome|not provided|BBS9-related disorder|Early onset severe obesity
β˜…β˜…β˜†β˜†2024β†’ Residue 355
NM_198428.3(BBS9):c.1812del (p.Glu604fs)Pathogenic
Bardet-Biedl syndrome 9|Bardet-Biedl syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 604
View on ClinVar β†—
Related Genes
BBIP1Protein interaction100%BBS2Protein interaction100%LZTFL1Protein interaction99%BBS10Protein interaction98%BBS12Protein interaction97%RAB3IPProtein interaction93%
Tissue Expression6 tissues
Ovary
100%
Brain
93%
Heart
73%
Lung
52%
Bone Marrow
47%
Liver
41%
Gene Interaction Network
Click a node to explore
BBS9BBIP1BBS2LZTFL1BBS10BBS12RAB3IP
PROTEIN STRUCTURE
Preparing viewer…
PDB4YD8 Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.66–0.96]
RankingsWhere BBS9 stands among ~20K protein-coding genes
  • #9,047of 20,598
    Most Researched48
  • #509of 5,498
    Most Pathogenic Variants149 Β· top 10%
  • #9,033of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedBBS9
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301537
1.00
2
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
PMID: 16380913
Am J Hum Genet Β· 2005
0.90
3
Significant role of circRNA BBS9 in chronic obstructive pulmonary disease via miRNA-103a-3p/BCL2L13.
PMID: 37442983
BMC Pulm Med Β· 2023
0.80
4
Nonsyndromic craniosynostosis: novel coding variants.
PMID: 30651579
Pediatr Res Β· 2019
0.70
5
Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects.
PMID: 22479622
PLoS One Β· 2012
0.60