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: 55212
MIM: 607590
HGNC: 18758
Ensembl: ENSG00000138686
Variants:
dbSNP: 55212
ClinVar: 55212
TCGA: ENSG00000138686
COSMIC: BBS7
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000138686 | ENST00000264499 | Q8IWZ6 |
| ENSG00000138686 | ENST00000506636 | Q8IWZ6 |
| ENSG00000138686 | ENST00000507814 | H0Y973 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36672825 | 2022 | Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations. | 2 |
| 36672825 | 2022 | Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations. | 2 |
| 33729075 | 2021 | Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model. | 6 |
| 33729075 | 2021 | Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model. | 6 |
| 31469663 | 2020 | A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family. | 1 |
| 31469663 | 2020 | A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family. | 1 |
| 31530639 | 2019 | Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex. | 5 |
| 31530639 | 2019 | Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex. | 5 |
| 28761321 | 2017 | Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. | 13 |
| 28761321 | 2017 | Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. | 13 |
| 27004616 | 2016 | Expansion of phenotype and genotypic data in CRB2-related syndrome. | 21 |
| 27004616 | 2016 | Expansion of phenotype and genotypic data in CRB2-related syndrome. | 21 |
| 25553308 | 2015 | Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome. | 7 |
| 25553308 | 2015 | Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome. | 7 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
Citation
Dessen P
BBS7 (Bardet-Biedl syndrome 7)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60720/bbs7-(bardet-biedl-syndrome-7)
