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: 583
MIM: 606151
HGNC: 967
Ensembl: ENSG00000125124
Variants:
dbSNP: 583
ClinVar: 583
TCGA: ENSG00000125124
COSMIC: BBS2
RNA/Proteins
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 |
| 33688495 | 2021 | Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome. | 0 |
| 33688495 | 2021 | Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome. | 0 |
| 32620959 | 2020 | Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl syndrome mice. | 6 |
| 32620959 | 2020 | Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl syndrome mice. | 6 |
| 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 |
| 24400638 | 2015 | Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. | 17 |
| 25541840 | 2015 | Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. | 25 |
| 26078953 | 2015 | Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome. | 6 |
| 24400638 | 2015 | Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. | 17 |
| 25541840 | 2015 | Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. | 25 |
| 26078953 | 2015 | Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome. | 6 |
| 23432027 | 2014 | Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. | 16 |
Citation
Dessen P
BBS2 (Bardet-Biedl syndrome 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60717/bbs2-(bardet-biedl-syndrome-2)
