CFAP69 (cilia and flagella associated protein 69)

2014-08-01  

Identity

HGNC
LOCATION
7q21.13
LOCUSID
ALIAS
C7orf63,FAP69,SPGF24
FUSION GENES

Other Information

Locus ID:

NCBI: 79846
MIM: 617949
HGNC: 26107
Ensembl: ENSG00000105792

Variants:

dbSNP: 79846
ClinVar: 79846
TCGA: ENSG00000105792
COSMIC: CFAP69

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105792ENST00000389297A5D8W1
ENSG00000105792ENST00000412839H7C468
ENSG00000105792ENST00000418199H7C076
ENSG00000105792ENST00000427396F8WBX7
ENSG00000105792ENST00000445156H7C3Z7
ENSG00000105792ENST00000449577H7BZV2
ENSG00000105792ENST00000451029A5D8W1
ENSG00000105792ENST00000457170H7C002
ENSG00000105792ENST00000497910A5D8W1

Expression (GTEx)

0
5
10
15
20
25

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
182881322008DNA methylation profiles in diffuse large B-cell lymphoma and their relationship to gene expression status.42
296063012018Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.17
304152122019Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella.7

Citation

Dessen P

CFAP69 (cilia and flagella associated protein 69)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54841/cfap69