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: 79140
MIM: 610162
HGNC: 28163
Ensembl: ENSG00000160050
Variants:
dbSNP: 79140
ClinVar: 79140
TCGA: ENSG00000160050
COSMIC: CCDC28B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000160050 | ENST00000373602 | Q9BUN5 |
| ENSG00000160050 | ENST00000421922 | Q9BUN5 |
| ENSG00000160050 | ENST00000461819 | E9PM81 |
| ENSG00000160050 | ENST00000469003 | E9PM03 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34294890 | 2022 | A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly. | 4 |
| 34294890 | 2022 | A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly. | 4 |
| 29445114 | 2018 | Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B. | 12 |
| 29445114 | 2018 | Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B. | 12 |
| 23015189 | 2013 | Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome. | 22 |
| 23727834 | 2013 | The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex. | 20 |
| 23015189 | 2013 | Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome. | 22 |
| 23727834 | 2013 | The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex. | 20 |
| 19402160 | 2009 | BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. | 22 |
| 19402160 | 2009 | BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. | 22 |
| 16327777 | 2006 | Dissection of epistasis in oligogenic Bardet-Biedl syndrome. | 130 |
| 16327777 | 2006 | Dissection of epistasis in oligogenic Bardet-Biedl syndrome. | 130 |
Citation
Dessen P
CCDC28B (coiled-coil domain containing 28B)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61537/ccdc28b-(coiled-coil-domain-containing-28b)
