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: 79738
MIM: 610148
HGNC: 26291
Ensembl: ENSG00000179941
Variants:
dbSNP: 79738
ClinVar: 79738
TCGA: ENSG00000179941
COSMIC: BBS10
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000179941 | ENST00000650064 | Q8TAM1 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36012682 | 2022 | Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet-Biedl Syndrome. | 4 |
| 36012682 | 2022 | Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet-Biedl Syndrome. | 4 |
| 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 |
| 33630762 | 2021 | Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons. | 21 |
| 34940782 | 2021 | Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10. | 7 |
| 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 |
| 33630762 | 2021 | Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons. | 21 |
| 34940782 | 2021 | Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10. | 7 |
| 33138063 | 2020 | Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance. | 9 |
| 33138063 | 2020 | Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance. | 9 |
| 29666954 | 2018 | Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. | 3 |
| 29806606 | 2018 | Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. | 11 |
| 30335236 | 2018 | A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome. | 0 |
| 29666954 | 2018 | Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. | 3 |
| 29806606 | 2018 | Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. | 11 |
Citation
Dessen P
BBS10 (Bardet-Biedl syndrome 10)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60715
