Identity
HGNC
LOCATION
18q21.1
LOCUSID
ALIAS
CCDC11,HTX6
FUSION GENES
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: 220136
MIM: 614759
HGNC: 26530
Ensembl: ENSG00000172361
Variants:
dbSNP: 220136
ClinVar: 220136
TCGA: ENSG00000172361
COSMIC: CFAP53
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000172361 | ENST00000398545 | Q96M91 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28621423 | 2017 | Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans. | 5 |
| 28621423 | 2017 | Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans. | 5 |
| 26531781 | 2016 | A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function. | 11 |
| 26531781 | 2016 | A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function. | 11 |
| 25504577 | 2015 | Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer. | 22 |
| 25504577 | 2015 | Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer. | 22 |
| 22577226 | 2012 | A human laterality disorder associated with recessive CCDC11 mutation. | 18 |
| 22577226 | 2012 | A human laterality disorder associated with recessive CCDC11 mutation. | 18 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
CFAP53 (cilia and flagella associated protein 53)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61759/cfap53-(cilia-and-flagella-associated-protein-53)
