BBS4 (Bardet-Biedl syndrome 4)

2014-11-01  

Identity

HGNC
LOCATION
15q24.1
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 585
MIM: 600374
HGNC: 969
Ensembl: ENSG00000140463

Variants:

dbSNP: 585
ClinVar: 585
TCGA: ENSG00000140463
COSMIC: BBS4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140463ENST00000268057Q96RK4
ENSG00000140463ENST00000268057A0A0S2Z3A9
ENSG00000140463ENST00000395205Q96RK4
ENSG00000140463ENST00000561914H3BUU1
ENSG00000140463ENST00000562084H3BN76
ENSG00000140463ENST00000563600H3BUQ7
ENSG00000140463ENST00000565160H3BPP7
ENSG00000140463ENST00000566197H3BU58
ENSG00000140463ENST00000566400H3BRY9
ENSG00000140463ENST00000566829H3BQV7
ENSG00000140463ENST00000566938H3BRY9
ENSG00000140463ENST00000567279H3BSE2
ENSG00000140463ENST00000569338H3BSL2
ENSG00000140463ENST00000569440H3BV56

Expression (GTEx)

0
5
10
15
20
25
30
35
40

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
182995752008Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.47
246914432014Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.38
120165872002BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.37
237165712013Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.36
246817832014Basal body proteins regulate Notch signaling through endosomal trafficking.36
170033562006Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.25
205089832011Centrosome-related genes, genetic variation, and risk of breast cancer.16
123659162002The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene.12
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11

Citation

Dessen P

BBS4 (Bardet-Biedl syndrome 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60718/bbs4