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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CFAP61
cilia and flagella associated protein 61
Chromosome 20 Β· 20p11.23
NCBI Gene: 26074Ensembl: ENSG00000089101.20HGNC: HGNC:15872UniProt: Q8NHU2
17PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
flagellated sperm motilitysperm flagellum assemblysperm flagellumaxonemespermatogenic failure 84Abnormality of the skeletal systemalcohol drinkingMale infertility due to large-headed multiflagellar polyploid spermatozoa
✦AI Summary

CFAP61 (cilia and flagella associated protein 61) is an essential component of the calmodulin- and radial spoke-associated complex (CSC) required for sperm flagellum assembly and male fertility 1. The protein localizes to the sperm neck and midpiece, where it facilitates radial spoke assembly and axoneme stabilization during spermiogenesis 12. CFAP61 functions within RNA granules formed through liquid-liquid phase separation to regulate translational expression of flagellar genes during spermatid development 3. Biallelic CFAP61 variants cause multiple morphological abnormalities of the flagella (MMAF) phenotype and severe oligoasthenoteratozoospermia (OAT), characterized by disrupted axoneme ultrastructure, absent central pair microtubules, missing radial spokes, and impaired intraflagellar transport 145. Cfap61-deficient mice recapitulate human infertility phenotypes without systemic ciliary dysfunction, revealing an organ-specific mechanism of flagellar stabilization 12. Genetic variants in CFAP61 account for approximately 0.62% of OAT cases in affected populations 5. Clinical interventions using intracytoplasmic sperm injection (ICSI) can achieve successful fertility outcomes despite severe flagellar defects 5. Genome-wide association studies additionally identified CFAP61 variants associated with non-anxiety depression, suggesting pleiotropic effects 6.

Sources cited
1
CFAP61 is a CSC component required for radial spoke assembly and axoneme stabilization; CFAP61 mutations cause MMAF phenotype and male infertility
PMID: 34792097
2
Homozygous CFAP61 variants cause MMAF with absent radial spokes and central pair microtubules in human spermatozoa
PMID: 35174165
3
Biallelic CFAP61 variants cause OAT in 0.62% of patients; loss of function impairs flagellar assembly; ICSI achieves successful fertility
PMID: 35387802
4
CEP112 regulates CFAP61 mRNA translation through liquid-liquid phase separation-mediated RNA granule assembly during spermiogenesis
PMID: 39349455
5
Cfap61 knockout mice show MMAF phenotype with impaired flagellar ultrastructure and male infertility; protein localizes to sperm neck and midpiece
PMID: 36659204
6
CFAP61 variants associated with non-anxiety depression in genome-wide association studies
PMID: 35730328
7
CFAP61 missense variant (p.Arg568Trp) identified as likely pathogenic in male infertility with sperm dysfunction
PMID: 41115892
Disease Associationsβ“˜21
spermatogenic failure 84Open Targets
0.53Moderate
Abnormality of the skeletal systemOpen Targets
0.50Moderate
alcohol drinkingOpen Targets
0.40Weak
Male infertility due to large-headed multiflagellar polyploid spermatozoaOpen Targets
0.39Weak
type 2 diabetes mellitusOpen Targets
0.29Weak
ocular hypertensionOpen Targets
0.27Weak
thrombophiliaOpen Targets
0.25Weak
device complicationOpen Targets
0.24Weak
macular degenerationOpen Targets
0.24Weak
ovarian neoplasmOpen Targets
0.23Weak
COVID-19Open Targets
0.19Weak
poisoningOpen Targets
0.19Weak
response to xenobiotic stimulusOpen Targets
0.19Weak
auditory system diseaseOpen Targets
0.18Weak
corneal edemaOpen Targets
0.18Weak
smoking initiationOpen Targets
0.14Weak
azoospermiaOpen Targets
0.11Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.10Suggestive
ShockOpen Targets
0.10Suggestive
liver diseaseOpen Targets
0.10Suggestive
Spermatogenic failure 84UniProt
Pathogenic Variants7
NM_015585.4(CFAP61):c.144-2A>GPathogenic
Spermatogenic failure 84
β˜†β˜†β˜†β˜†2023
NM_015585.4(CFAP61):c.452_453del (p.Ile151fs)Pathogenic
Spermatogenic failure 84
β˜†β˜†β˜†β˜†2023β†’ Residue 151
NM_015585.4(CFAP61):c.847C>T (p.Arg283Ter)Pathogenic
Spermatogenic failure 84
β˜†β˜†β˜†β˜†2023β†’ Residue 283
NM_015585.4(CFAP61):c.143+5G>APathogenic
Spermatogenic failure 84
β˜†β˜†β˜†β˜†2023
NM_015585.4(CFAP61):c.2911G>A (p.Asp971Asn)Pathogenic
Spermatogenic failure 84
β˜†β˜†β˜†β˜†2023β†’ Residue 971
NM_015585.4(CFAP61):c.1666G>A (p.Gly556Arg)Pathogenic
Spermatogenic failure 84
β˜†β˜†β˜†β˜†2023β†’ Residue 556
NM_015585.4(CFAP61):c.1654C>T (p.Arg552Cys)Pathogenic
Spermatogenic failure 84
β˜†β˜†β˜†β˜†2023β†’ Residue 552
View on ClinVar β†—
Related Genes
CFAP126Shared pathway50%DYDC1Shared pathway50%DRC10Shared pathway50%DRC8Shared pathway50%DRC9Shared pathway50%TTC29Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Brain
7%
Lung
1%
Ovary
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CFAP61CFAP126DYDC1DRC10DRC8DRC9TTC29
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.63–0.89]
RankingsWhere CFAP61 stands among ~20K protein-coding genes
  • #14,950of 20,598
    Most Researched17
  • #3,271of 5,498
    Most Pathogenic Variants7
  • #8,005of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedCFAP61
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CEP112 coordinates translational regulation of essential fertility genes during spermiogenesis through phase separation in humans and mice.
PMID: 39349455
Nat Commun Β· 2024
1.00
2
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J Β· 2022
0.90
3
CFAP61 is required for sperm flagellum formation and male fertility in human and mouse.
PMID: 34792097
Development Β· 2021
0.80
4
Biallelic
PMID: 35387802
J Med Genet Β· 2023
0.70
5
Biallelic Variants in
PMID: 35174165
Front Cell Dev Biol Β· 2021
0.60