Entity Details

Primary name CFAP69
Entity type gene
Source Source Link

Details

PrimaryID79846
RefseqGene
SymbolCFAP69
Namecilia and flagella associated protein 69
Chromosome7
Location7q21.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCFA69_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0007288 sperm axoneme assembly
GO:0007608 sensory perception of smell
GO:0030317 flagellated sperm motility
GO:0042048 olfactory behavior
GO:0097225 sperm midpiece
GO:0097730 non-motile cilium
GO:1902093 positive regulation of flagellated sperm motility
GO:1905516 positive regulation of fertilization
GO:1990834 response to odorant

Diseases

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Disease IDSourceNameDescription
617959 OMIMSpermatogenic failure 24 (SPGF24)An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
CFAP69SEPTIN1BioGRID, IntAct30021884 details
CFAP69HNRNPLBioGRID28611215 details