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: 585
MIM: 600374
HGNC: 969
Ensembl: ENSG00000140463
Variants:
dbSNP: 585
ClinVar: 585
TCGA: ENSG00000140463
COSMIC: BBS4
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32894499 | 2021 | BBS4 Is Essential for Nuclear Transport of Transcription Factors Mediating Neuronal ER Stress Response. | 3 |
| 33860840 | 2021 | BBS4 protein has basal body/ciliary localization in sensory organs but extra-ciliary localization in oligodendrocytes during human development. | 2 |
| 33964006 | 2021 | Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation. | 4 |
| 32894499 | 2021 | BBS4 Is Essential for Nuclear Transport of Transcription Factors Mediating Neuronal ER Stress Response. | 3 |
| 33860840 | 2021 | BBS4 protein has basal body/ciliary localization in sensory organs but extra-ciliary localization in oligodendrocytes during human development. | 2 |
| 33964006 | 2021 | Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation. | 4 |
| 32759308 | 2020 | The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells. | 12 |
| 32759308 | 2020 | The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells. | 12 |
| 24681783 | 2014 | Basal body proteins regulate Notch signaling through endosomal trafficking. | 52 |
| 24691443 | 2014 | Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. | 52 |
| 24867303 | 2014 | BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF. | 10 |
| 25533820 | 2014 | A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome. | 5 |
| 24681783 | 2014 | Basal body proteins regulate Notch signaling through endosomal trafficking. | 52 |
| 24691443 | 2014 | Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. | 52 |
| 24867303 | 2014 | BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF. | 10 |
Citation
Dessen P
BBS4 (Bardet-Biedl syndrome 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60718/bbs4-(bardet-biedl-syndrome-4)
