HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CFAP65
cilia and flagella associated protein 65
Chromosome 2 · 2q35
NCBI Gene: 255101Ensembl: ENSG00000181378.14HGNC: HGNC:25325UniProt: B4DYZ8
14PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingcytoplasmsperm flagellumspermatogenic failure 40non-syndromic male infertility due to sperm motility disorderFamilial prostate cancerprostate cancer
✦AI Summary

CFAP65 (cilia and flagella associated protein 65) is essential for sperm flagellar structure and motility. Primary function: CFAP65 anchors at the base of the C2a projection within the axoneme's central pair apparatus, where it interacts with proteins like CFAP70 and MYCBPAP to maintain axonemal integrity 1. During spermiogenesis, CFAP65 is required for acrosome biogenesis, manchette organization, and mitochondrial sheath assembly, forming a cytoplasmic protein network with MNS1, RSPH1, TPPP2, ZPBP1, and SPACA1 2. Mechanism: Loss of CFAP65 causes disorganization of the sperm head-shaping microtubule structure and impairs protamine precursor removal, leading to nuclear condensation defects and C2a projection disintegration 1. Disease relevance: CFAP65 mutations cause multiple morphological abnormalities of sperm flagella (MMAF) and asthenoteratozoospermia, accounting for significant male infertility cases 34. Clinical significance: CFAP65-deficient males present with severe sperm flagellar defects and infertility, with high hydrocephalus incidence but organ-specific ciliary involvement—respiratory cilia remain largely unaffected 1. Intracytoplasmic sperm injection (ICSI) offers good reproductive prognosis for affected individuals 5. CFAP65 also shows potential as a prognostic marker in colon cancer, with low expression correlating with reduced disease-free survival 6.

Sources cited
1
CFAP65 anchors at C2a projection base, interacts with CFAP70 and MYCBPAP, and its deficiency causes sperm flagellar defects, hydrocephalus, and organ-specific ciliary dysfunction
PMID: 39853433
2
CFAP65 is required for acrosome biogenesis, manchette organization, mitochondrial sheath assembly, and forms protein network with MNS1, RSPH1, TPPP2, ZPBP1, SPACA1
PMID: 34231842
3
CFAP65 mutations result in multiple morphological abnormalities of sperm flagella (MMAF)
PMID: 39417902
4
Homozygous CFAP65 mutations cause MMAF phenotype and male infertility with loss-of-function mechanisms
PMID: 31571197
5
CFAP47 (related flagella protein) causes asthenoteratozoospermia; ICSI offers good reproductive prognosis for flagellar defects
PMID: 33472045
6
CFAP65 shows elevated expression in colon cancer and low expression correlates with reduced five-year disease-free survival
PMID: 38992586
Disease Associationsⓘ21
spermatogenic failure 40Open Targets
0.70Moderate
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.40Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
azoospermiaOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.10Weak
spermatogenic failure, X-linked, 5Open Targets
0.08Suggestive
spermatogenic failure 72Open Targets
0.08Suggestive
spermatogenic failure 18Open Targets
0.08Suggestive
spermatogenic failure 27Open Targets
0.08Suggestive
spermatogenic failure 46Open Targets
0.08Suggestive
spermatogenic failure 83Open Targets
0.08Suggestive
spermatogenic failure 19Open Targets
0.08Suggestive
spermatogenic failure 43Open Targets
0.08Suggestive
spermatogenic failure 45Open Targets
0.08Suggestive
spermatogenic failure 49Open Targets
0.08Suggestive
spermatogenic failure 82Open Targets
0.08Suggestive
spermatogenic failure 65Open Targets
0.08Suggestive
spermatogenic failure 84Open Targets
0.08Suggestive
spermatogenic failure 93Open Targets
0.08Suggestive
Spermatogenic failure 40UniProt
Pathogenic Variants8
NM_194302.4(CFAP65):c.5518G>T (p.Glu1840Ter)Likely pathogenic
Susceptibility to severe COVID-19
★☆☆☆2024→ Residue 1840
NM_194302.4(CFAP65):c.3603G>A (p.Trp1201Ter)Likely pathogenic
CFAP65-related disorder
★☆☆☆2023→ Residue 1201
NM_194302.4(CFAP65):c.3602+1G>TLikely pathogenic
not provided
★☆☆☆2022
NM_194302.4(CFAP65):c.400C>T (p.Gln134Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 134
NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter)Pathogenic
Spermatogenic failure 40
★☆☆☆2019→ Residue 1781
NM_194302.4(CFAP65):c.1580del (p.Leu527fs)Pathogenic
Spermatogenic failure 40
☆☆☆☆2019→ Residue 527
NM_194302.4(CFAP65):c.2675G>A (p.Trp892Ter)Pathogenic
Spermatogenic failure 40
☆☆☆☆2019→ Residue 892
NM_194302.4(CFAP65):c.2284C>T (p.Arg762Ter)Pathogenic
Spermatogenic failure 40
☆☆☆☆2019→ Residue 762
View on ClinVar ↗
Related Genes
DRC7Shared pathway67%TBC1D21Shared pathway50%CFAP43Shared pathway43%MNS1Shared pathway38%PFN4Shared pathway38%DRC9Shared pathway38%
Tissue Expression6 tissues
Lung
100%
Brain
58%
Liver
16%
Bone Marrow
10%
Ovary
3%
Heart
0%
Gene Interaction Network
Click a node to explore
CFAP65DRC7TBC1D21CFAP43MNS1PFN4DRC9
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q49A14
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.65–0.85]
RankingsWhere CFAP65 stands among ~20K protein-coding genes
  • #15,825of 20,598
    Most Researched14
  • #3,140of 5,498
    Most Pathogenic Variants8
  • #7,381of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedCFAP65
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet · 2024
1.00
2
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
PMID: 33472045
Am J Hum Genet · 2021
0.90
3
CFAP65 is essential for C2a projection integrity in axonemes: implications for organ-specific ciliary dysfunction and infertility.
PMID: 39853433
Cell Mol Life Sci · 2025
0.80
4
The expression and clinical significance of CFAP65 in colon cancer.
PMID: 38992586
BMC Gastroenterol · 2024
0.70
5
CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis.
PMID: 34231842
Hum Mol Genet · 2021
0.60