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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CFAP69
cilia and flagella associated protein 69
Chromosome 7 Β· 7q21.13
NCBI Gene: 79846Ensembl: ENSG00000105792.20HGNC: HGNC:26107UniProt: A5D8W1
14PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sperm axoneme assemblyflagellated sperm motilitysperm midpiececytoplasmspermatogenic failure 24non-syndromic male infertility due to sperm motility disordertype 2 diabetes mellitusAbnormality of the skeletal system
✦AI Summary

CFAP69 encodes a cilia and flagella-associated protein that is essential for male fertility through its role in sperm flagellum assembly and stability 1. The protein localizes to the midpiece of sperm flagella and is highly expressed in testis 1. Mechanistically, CFAP69 is required during spermiogenesis for proper flagellum structure formation, as demonstrated by severe ultrastructural disruption in knockout mice despite preserved overall spermatogenesis 1. Homozygous loss-of-function mutations in CFAP69 cause autosomal-recessive multiple morphological abnormalities of the flagella (MMAF), characterized by immotile spermatozoa with short, coiled, absent, or irregular-caliber flagella 12. This condition results in severe asthenoteratozoospermia and male infertility, classified as spermatogenic failure 24 3. Clinical studies have identified novel pathogenic variants including frameshift mutations that reduce CFAP69 expression and disrupt sperm ultrastructure 3. Despite the severe sperm defects, assisted reproductive technology with intracytoplasmic sperm injection (ICSI) can achieve successful pregnancies in affected couples, offering therapeutic hope 3. CFAP69 interacts with other proteins involved in sperm assembly and flagella formation, including confirmed binding to SPEF2 4.

Sources cited
1
CFAP69 is required for sperm flagellum assembly and stability, localizes to the midpiece, and causes MMAF when mutated
PMID: 29606301
2
Novel CFAP69 variants cause asthenoteratozoospermia with disrupted sperm ultrastructure, but ICSI treatment can be successful
PMID: 37392306
3
Homozygous loss-of-function mutations in CFAP69 cause asthenoteratospermia with MMAF in humans and mice
PMID: 30415212
4
CFAP69 binds to SPEF2 and is involved in protein interactions related to sperm assembly and flagella formation
PMID: 36995441
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
spermatogenic failure 24Open Targets
0.61Moderate
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.44Moderate
type 2 diabetes mellitusOpen Targets
0.31Weak
Abnormality of the skeletal systemOpen Targets
0.26Weak
coronary atherosclerosisOpen Targets
0.13Weak
azoospermiaOpen Targets
0.11Weak
diabetes mellitusOpen Targets
0.11Weak
spermatogenic failure 78Open Targets
0.09Suggestive
spermatogenic failure 72Open Targets
0.09Suggestive
spermatogenic failure 18Open Targets
0.09Suggestive
spermatogenic failure 27Open Targets
0.09Suggestive
spermatogenic failure 46Open Targets
0.09Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.09Suggestive
spermatogenic failure 19Open Targets
0.09Suggestive
spermatogenic failure 43Open Targets
0.09Suggestive
spermatogenic failure 45Open Targets
0.09Suggestive
spermatogenic failure 49Open Targets
0.09Suggestive
spermatogenic failure 82Open Targets
0.09Suggestive
spermatogenic failure 83Open Targets
0.09Suggestive
spermatogenic failure 65Open Targets
0.09Suggestive
Spermatogenic failure 24UniProt
Pathogenic Variants6
NM_001039706.3(CFAP69):c.340_341del (p.Ile114fs)Likely pathogenic
Susceptibility to severe COVID-19
β˜…β˜†β˜†β˜†2024β†’ Residue 114
NM_001039706.3(CFAP69):c.2602C>T (p.Arg868Ter)Likely pathogenic
Non-syndromic male infertility due to sperm motility disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 868
NM_001039706.3(CFAP69):c.1069_1070insAC (p.Leu357fs)Pathogenic
Spermatogenic failure 24
β˜†β˜†β˜†β˜†2019β†’ Residue 357
NM_001039706.3(CFAP69):c.647G>A (p.Trp216Ter)Pathogenic
Spermatogenic failure 24
β˜†β˜†β˜†β˜†2019β†’ Residue 216
NM_001039706.3(CFAP69):c.763C>T (p.Gln255Ter)Pathogenic
Spermatogenic failure 24
β˜†β˜†β˜†β˜†2018β†’ Residue 255
NM_001039706.3(CFAP69):c.860+1G>APathogenic
Spermatogenic failure 24
β˜†β˜†β˜†β˜†2018
View on ClinVar β†—
Related Genes
CFAP251Protein interaction73%QRICH2Protein interaction71%CFAP43Protein interaction60%CFAP44Protein interaction57%DNAH1Protein interaction54%FSIP2Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Liver
76%
Lung
50%
Heart
42%
Brain
21%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
CFAP69CFAP251QRICH2CFAP43CFAP44DNAH1FSIP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A5D8W1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.63–1.00]
RankingsWhere CFAP69 stands among ~20K protein-coding genes
  • #15,826of 20,598
    Most Researched14
  • #3,451of 5,498
    Most Pathogenic Variants6
  • #9,667of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedCFAP69
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A novel variant in CFAP69 causes asthenoteratozoospermia with treatable ART outcomes and a literature review.
PMID: 37392306
J Assist Reprod Genet Β· 2023
1.00
2
Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.
PMID: 29606301
Am J Hum Genet Β· 2018
0.90
3
Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms.
PMID: 39325344
J Assist Reprod Genet Β· 2024
0.80
4
The Significance of Tumor Microenvironment Score for Breast Cancer Patients.
PMID: 35528180
Biomed Res Int Β· 2022
0.70
5
Novel homozygous
PMID: 30415212
J Med Genet Β· 2019
0.60