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: 144535
HGNC: 26456
Ensembl: ENSG00000188596
Variants:
dbSNP: 144535
ClinVar: 144535
TCGA: ENSG00000188596
COSMIC: CFAP54
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000188596 | ENST00000524981 | Q96N23 |
| ENSG00000188596 | ENST00000550977 | H0YIB5 |
| ENSG00000188596 | ENST00000553778 | A0A0A0MTQ3 |
| ENSG00000188596 | ENST00000637336 | A0A1B0GU80 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36593121 | 2023 | Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA. | 3 |
| 37725231 | 2023 | Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients. | 1 |
| 36593121 | 2023 | Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA. | 3 |
| 37725231 | 2023 | Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients. | 1 |
| 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
CFAP54 (cilia and flagella associated protein 54)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61760/cfap54-(cilia-and-flagella-associated-protein-54)
