CCDC28B (coiled-coil domain containing 28B)

2014-11-01  

Identity

HGNC
LOCATION
1p35.2
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 79140
MIM: 610162
HGNC: 28163
Ensembl: ENSG00000160050

Variants:

dbSNP: 79140
ClinVar: 79140
TCGA: ENSG00000160050
COSMIC: CCDC28B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160050ENST00000373602Q9BUN5
ENSG00000160050ENST00000421922Q9BUN5
ENSG00000160050ENST00000461819E9PM81
ENSG00000160050ENST00000469003E9PM03

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163277772006Dissection of epistasis in oligogenic Bardet-Biedl syndrome.108
230151892013Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.14
194021602009BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.13
237278342013The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex.10
294451142018Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B.2

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)