Identity
HGNC
LOCATION
7p14.3
LOCUSID
ALIAS
B1,C18,D1,PTHB1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 27241
MIM: 607968
HGNC: 30000
Ensembl: ENSG00000122507
Variants:
dbSNP: 27241
ClinVar: 27241
TCGA: ENSG00000122507
COSMIC: BBS9
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34692830 | 2021 | A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome. | 2 |
| 34692830 | 2021 | A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome. | 2 |
| 33138063 | 2020 | Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance. | 9 |
| 33138063 | 2020 | Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance. | 9 |
| 31294530 | 2019 | Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene. | 5 |
| 31530639 | 2019 | Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex. | 5 |
| 31294530 | 2019 | Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene. | 5 |
| 31530639 | 2019 | Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex. | 5 |
| 29674126 | 2018 | BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche. | 7 |
| 29674126 | 2018 | BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche. | 7 |
| 26480920 | 2016 | Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat. | 48 |
| 26846096 | 2016 | Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. | 9 |
| 26480920 | 2016 | Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat. | 48 |
| 26846096 | 2016 | Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. | 9 |
| 24400638 | 2015 | Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. | 17 |
Citation
Dessen P
BBS9 (Bardet-Biedl syndrome 9)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43610/bbs9-(bardet-biedl-syndrome-9)
