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: 129880
MIM: 603650
HGNC: 970
Ensembl: ENSG00000163093
Variants:
dbSNP: 129880
ClinVar: 129880
TCGA: ENSG00000163093
COSMIC: BBS5
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33560420 | 2021 | A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities. | 6 |
| 33572860 | 2021 | BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. | 8 |
| 33560420 | 2021 | A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities. | 6 |
| 33572860 | 2021 | BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. | 8 |
| 32811249 | 2020 | Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS). | 3 |
| 32811249 | 2020 | Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS). | 3 |
| 30850397 | 2019 | Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. | 10 |
| 30850397 | 2019 | Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. | 10 |
| 26867008 | 2016 | A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina. | 5 |
| 27520585 | 2016 | Expression of CXCL6 and BBS5 that may be glaucoma relevant genes is regulated by PITX2. | 4 |
| 26867008 | 2016 | A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina. | 5 |
| 27520585 | 2016 | Expression of CXCL6 and BBS5 that may be glaucoma relevant genes is regulated by PITX2. | 4 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 19077438 | 2009 | Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. | 12 |
Citation
Dessen P
BBS5 (Bardet-Biedl syndrome 5)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60719/bbs5-(bardet-biedl-syndrome-5)
