CFAP65 (cilia and flagella associated protein 65)

2016-01-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
ALIAS
CCDC108,SPGF40

Other Information

Locus ID:

NCBI: 255101
MIM: 614270
HGNC: 25325
Ensembl: ENSG00000181378

Variants:

dbSNP: 255101
ClinVar: 255101
TCGA: ENSG00000181378
COSMIC: CFAP65

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181378ENST00000295729Q6ZU64
ENSG00000181378ENST00000341552Q6ZU64
ENSG00000181378ENST00000409865Q6ZU64
ENSG00000181378ENST00000410037Q6ZU64
ENSG00000181378ENST00000413871H7C0B4
ENSG00000181378ENST00000436631C9JIV0
ENSG00000181378ENST00000441968Q49A14
ENSG00000181378ENST00000453220Q6ZU64
ENSG00000181378ENST00000457968C9JVA0
ENSG00000181378ENST00000458526C9JLP9

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
352016412022Male infertility-associated Ccdc108 regulates multiciliogenesis via the intraflagellar transport machinery.7
352016412022Male infertility-associated Ccdc108 regulates multiciliogenesis via the intraflagellar transport machinery.7
315012402020Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice.27
315012402020Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice.27
314131222019Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations.33
314131222019Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations.33

Citation

Dessen P

CFAP65 (cilia and flagella associated protein 65)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/77823/cfap65-(cilia-and-flagella-associated-protein-65)