BBS9 (Bardet-Biedl syndrome 9)

2007-02-01  

Identity

HGNC
LOCATION
7p14.3
LOCUSID
ALIAS
B1,C18,D1,PTHB1
FUSION GENES

Other Information

Locus ID:

NCBI: 27241
MIM: 607968
HGNC: 30000
Ensembl: ENSG00000122507

Variants:

dbSNP: 27241
ClinVar: 27241
TCGA: ENSG00000122507
COSMIC: BBS9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122507ENST00000242067Q3SYG4
ENSG00000122507ENST00000242067A0A090N8P4
ENSG00000122507ENST00000350941Q3SYG4
ENSG00000122507ENST00000350941A0A090N7W2
ENSG00000122507ENST00000355070Q3SYG4
ENSG00000122507ENST00000396127Q3SYG4
ENSG00000122507ENST00000425508Q3SYG4
ENSG00000122507ENST00000432983C9JJ08
ENSG00000122507ENST00000433714F8WCG5
ENSG00000122507ENST00000434373H7BZ69

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
BBSome-mediated cargo-targeting to ciliumREACTOMER-HSA-5620922

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163809132005Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
231600992012A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.43
264809202016Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat.30
224796222012Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects.23
256310892015The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration.20
126187632003The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.11
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
260850872015Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9).9
183491062008Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure.8

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)