CFAP54 (cilia and flagella associated protein 54)

2014-11-01  

Identity

HGNC
LOCATION
12q23.1
LOCUSID
ALIAS
C12orf55,C12orf63

Other Information

Locus ID:

NCBI: 144535
HGNC: 26456
Ensembl: ENSG00000188596

Variants:

dbSNP: 144535
ClinVar: 144535
TCGA: ENSG00000188596
COSMIC: CFAP54

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188596ENST00000524981Q96N23
ENSG00000188596ENST00000550977H0YIB5
ENSG00000188596ENST00000553778A0A0A0MTQ3
ENSG00000188596ENST00000637336A0A1B0GU80

Expression (GTEx)

0
1
2
3
4
5

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
365931212023Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.3
377252312023Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.1
365931212023Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.3
377252312023Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.1
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized 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/js/welcome