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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CFAP251
cilia and flagella associated protein 251
Chromosome 12 Β· 12q24.31
NCBI Gene: 144406Ensembl: ENSG00000158023.11HGNC: HGNC:28506UniProt: Q8TBY9
30PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
flagellated sperm motilitysperm flagellumsperm midpiecesperm end pieceazoospermianon-syndromic male infertility due to sperm motility disordermale infertility with teratozoospermia due to single gene mutationspermatogenic failure 18
✦AI Summary

CFAP251 (cilia and flagella associated protein 251) is essential for sperm motility and flagellar assembly in mammals. The protein localizes along the sperm flagellum and is a component of the calmodulin- and radial-spoke-associated complex, positioned on the inner surface of peripheral microtubule doublets adjacent to DNAH1 1. CFAP251 functions as a structural component critical for radial spoke assembly, particularly RS3, and appears to regulate cilium motility through its role in axonemal radial spoke organization 23. Loss-of-function mutations in CFAP251 cause multiple morphological abnormalities of flagella (MMAF), leading to sperm with absent, short, coiled, or irregular-caliber flagella 41. Biallelic mutations in CFAP251 have been identified in approximately 5% of Han Chinese men with MMAF, representing a significant genetic cause of male infertility 4. The protein's absence also affects mitochondrial sheath formation during spermatozoon development 1. Proteomic studies have identified CFAP251 as one of several sperm proteins showing deviant abundances in infertile men, confirming its clinical relevance as a biomarker for male fertility assessment 5. These findings establish CFAP251 as a critical component of sperm flagellar function and a clinically significant gene in male reproductive health.

Sources cited
1
CFAP251 localizes along flagellum, is component of calmodulin- and radial-spoke-associated complex, and affects mitochondrial sheath formation
PMID: 30122541
2
Biallelic CFAP251 mutations cause MMAF in 5% of Han Chinese men with sperm flagellar defects
PMID: 30310178
3
CFAP91 immunoprecipitates with CFAP251 and other RS3 proteins, whose localization is disrupted in knockout sperm
PMID: 40931011
4
CFAP251 (Cfap251) levels are significantly diminished in CFAP91-KO cells, confirming role in radial spoke stability
PMID: 36552811
5
CFAP251 shows deviant abundances in infertile men and is part of male infertility protein network
PMID: 36896575
Disease Associationsβ“˜21
azoospermiaOpen Targets
0.65Moderate
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.51Moderate
male infertility with teratozoospermia due to single gene mutationOpen Targets
0.42Moderate
Reduced sperm motilityOpen Targets
0.33Weak
spermatogenic failure 18Open Targets
0.33Weak
knee fractureOpen Targets
0.31Weak
Graves diseaseOpen Targets
0.28Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.25Weak
cardiac transplantOpen Targets
0.23Weak
response to fluoroquinolonesOpen Targets
0.21Weak
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
cancerOpen Targets
0.03Suggestive
oral squamous cell carcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
dysplasiaOpen Targets
0.02Suggestive
colorectal adenocarcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
Spermatogenic failure 33UniProt
Pathogenic Variants10
NM_144668.6(CFAP251):c.799C>T (p.Arg267Ter)Pathogenic
CFAP251-related disorder|Spermatogenic failure 33
β˜…β˜…β˜†β˜†2022β†’ Residue 267
NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter)Likely pathogenic
Spermatogenic failure 33|Male infertility with teratozoospermia due to single gene mutation;Non-syndromic male infertility due to sperm motility disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 111
NM_144668.6(CFAP251):c.186_187insAGGAGGAGGAGGAGAAA (p.Glu63fs)Likely pathogenic
Spermatogenic failure 33
β˜…β˜†β˜†β˜†2022β†’ Residue 63
NM_144668.6(CFAP251):c.385C>T (p.Gln129Ter)Likely pathogenic
Spermatogenic failure 33
β˜…β˜†β˜†β˜†2022β†’ Residue 129
NM_144668.6(CFAP251):c.196_197insAGAAAGGAGGAGG (p.Gly66fs)Likely pathogenic
Spermatogenic failure 33
β˜…β˜†β˜†β˜†2021β†’ Residue 66
NM_144668.6(CFAP251):c.202del (p.Glu68fs)Pathogenic
Spermatogenic failure 33
β˜…β˜†β˜†β˜†β†’ Residue 68
NM_144668.6(CFAP251):c.1930_1931del (p.Arg644fs)Pathogenic
Spermatogenic failure 33
β˜…β˜†β˜†β˜†β†’ Residue 644
NM_144668.6(CFAP251):c.123del (p.Asp42fs)Pathogenic
Male infertility with teratozoospermia due to single gene mutation;Non-syndromic male infertility due to sperm motility disorder|Spermatogenic failure 33
β˜†β˜†β˜†β˜†2024β†’ Residue 42
NM_144668.6(CFAP251):c.1588_1589del (p.Leu530fs)Pathogenic
Spermatogenic failure 33|Reduced sperm motility;dysplasia of the mitochondrial sheath;multiple morphologic abnormalities of the sperm flagellum
β˜†β˜†β˜†β˜†2024β†’ Residue 530
NM_144668.6(CFAP251):c.3007-4915_3338-930delPathogenic
Spermatogenic failure 33|Spermatogenic failure 18
β˜†β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
RSPH14Shared pathway100%DRC3Shared pathway100%RSPH3Shared pathway100%DRC8Shared pathway100%DRC10Shared pathway100%DYDC1Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Brain
95%
Liver
90%
Lung
58%
Heart
57%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
CFAP251RSPH14DRC3RSPH3DRC8DRC10DYDC1
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.83LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.58–0.83]
RankingsWhere CFAP251 stands among ~20K protein-coding genes
  • #11,880of 20,598
    Most Researched30
  • #2,887of 5,498
    Most Pathogenic Variants10
  • #7,071of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedCFAP251
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility.
PMID: 30310178
J Hum Genet Β· 2019
1.00
2
Proximity labeling of axonemal protein CFAP91 identifies EFCAB5 that regulates sperm motility.
PMID: 40931011
Nat Commun Β· 2025
0.90
3
The human sperm proteome-Toward a panel for male fertility testing.
PMID: 36896575
Andrology Β· 2023
0.80
4
Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.
PMID: 36017582
Andrology Β· 2022
0.70
5
Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
PMID: 37934199
Elife Β· 2023
0.60