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: 166379
MIM: 610683
HGNC: 26648
Ensembl: ENSG00000181004
Variants:
dbSNP: 166379
ClinVar: 166379
TCGA: ENSG00000181004
COSMIC: BBS12
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000181004 | ENST00000314218 | Q6ZW61 |
| ENSG00000181004 | ENST00000433287 | C9J8H7 |
| ENSG00000181004 | ENST00000542236 | Q6ZW61 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37293956 | 2023 | Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants. | 1 |
| 37293956 | 2023 | Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants. | 1 |
| 24611592 | 2014 | Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. | 12 |
| 24611592 | 2014 | Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. | 12 |
| 22958920 | 2012 | BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. | 47 |
| 22958920 | 2012 | BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. | 47 |
| 20472660 | 2010 | Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. | 35 |
| 20827784 | 2010 | Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. | 5 |
| 20472660 | 2010 | Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. | 35 |
| 20827784 | 2010 | Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. | 5 |
| 19190184 | 2009 | Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. | 92 |
| 19190184 | 2009 | Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. | 92 |
| 17160889 | 2007 | Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. | 93 |
| 17160889 | 2007 | Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. | 93 |
Citation
Dessen P
BBS12 (Bardet-Biedl syndrome 12)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60716/bbs12-(bardet-biedl-syndrome-12)
