HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CFAP58
cilia and flagella associated protein 58
Chromosome 10 Β· 10q25.1
NCBI Gene: 159686Ensembl: ENSG00000120051.15HGNC: HGNC:26676UniProt: Q5T655
21PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615sperm axoneme assemblysperm principal piecesperm midpiecespermatogenic failure 49type 2 diabetes mellitusintelligenceAbnormality of the integument
✦AI Summary

CFAP58 is a testis-enriched cilia and flagella-associated protein essential for sperm axoneme assembly and flagellar development 1. The protein localizes predominantly to the sperm midpiece and functions as a cargo stabilizer in the intra-flagellar transport pathway, interacting with IFT88 and CCDC42 2. CFAP58 is required for central pair (CP) microtubule assembly and organization of axoneal ultrastructure proteins including SPAG6, SPEF2, and mitochondrial sheath components 31. Additionally, CFAP58 modulates primary cilium elongation through Notch signaling pathway modulation 4. Biallelic loss-of-function CFAP58 mutations cause multiple morphological abnormalities of sperm flagella (MMAF), a severe form of male infertility characterized by flagellar defects, axonemal malformations, and abnormal sperm head shaping 513. CFAP58 deficiency increases spermatozoa apoptosis and results in infertility in mouse models 2. Genetic variants in the CFAP58 promoter are associated with reduced semen quality in cattle, including elevated sperm deformity rates 2. CFAP58 mutations have been identified in multiple unrelated consanguineous families with MMAF, establishing CFAP58 as a pathogenic gene for this condition 5. Intracytoplasmic sperm injection (ICSI) represents an effective assisted reproductive treatment for male infertility caused by CFAP58 mutations 5. Additionally, rare CFAP58 variants associate with telomere length and increased cancer mortality risk 6.

Sources cited
1
CFAP58 plays a vital role in sperm flagellogenesis and axoneme/mitochondrial sheath assembly; identified in MMAF patients with flagellar defects
PMID: 32791035
2
CFAP58 is required for sperm flagellar and head shaping; interacts with IFT88 and CCDC42; genetic variants associated with semen quality in cattle
PMID: 38602507
3
CFAP58 mutation disrupts central pair microtubule assembly during spermiogenesis, causing MMAF phenotype in humans and mice
PMID: 40675161
4
Biallelic CFAP58 mutations identified in MMAF patients; ICSI is effective treatment for infertility caused by CFAP58 deficiency
PMID: 33314088
5
CFAP58 required for primary cilium elongation and sperm midpiece elongation via Notch signaling pathway modulation
PMID: 31904090
6
Rare CFAP58 variants associate with telomere length and elevated risk of cancer-related mortality
PMID: 38837026
Disease Associationsβ“˜21
spermatogenic failure 49Open Targets
0.70Moderate
type 2 diabetes mellitusOpen Targets
0.28Weak
intelligenceOpen Targets
0.28Weak
Abnormality of the integumentOpen Targets
0.27Weak
Uterine leiomyomaOpen Targets
0.24Weak
atrial fibrillationOpen Targets
0.22Weak
placental retentionOpen Targets
0.22Weak
urethral syndromeOpen Targets
0.22Weak
uterine fibroidOpen Targets
0.20Weak
azoospermiaOpen Targets
0.11Weak
lower respiratory tract diseaseOpen Targets
0.08Suggestive
hypertensionOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 79Open Targets
0.07Suggestive
spermatogenic failure 58Open Targets
0.07Suggestive
spermatogenic failure 10Open Targets
0.07Suggestive
spermatogenic failure 11Open Targets
0.07Suggestive
spermatogenic failure 47Open Targets
0.07Suggestive
spermatogenic failure 76Open Targets
0.07Suggestive
spermatogenic failure 80Open Targets
0.07Suggestive
Spermatogenic failure 49UniProt
Pathogenic Variants6
NM_001008723.2(CFAP58):c.1360C>T (p.Gln454Ter)Likely pathogenic
Spermatogenic failure 49
β˜…β˜†β˜†β˜†2024β†’ Residue 454
NM_001008723.2(CFAP58):c.2092C>T (p.Arg698Ter)Pathogenic
Spermatogenic failure 49
β˜…β˜†β˜†β˜†2021β†’ Residue 698
NM_001008723.2(CFAP58):c.1429del (p.Lys476_Ile477insTer)Pathogenic
Spermatogenic failure 49
β˜†β˜†β˜†β˜†2020β†’ Residue 476
NM_001008723.2(CFAP58):c.2052del (p.His685fs)Pathogenic
Spermatogenic failure 49
β˜†β˜†β˜†β˜†2020β†’ Residue 685
NM_001008723.2(CFAP58):c.1696C>T (p.Gln566Ter)Pathogenic
Spermatogenic failure 49
β˜†β˜†β˜†β˜†2020β†’ Residue 566
NM_001008723.2(CFAP58):c.2274C>A (p.Tyr758Ter)Pathogenic
Spermatogenic failure 49
β˜†β˜†β˜†β˜†2020β†’ Residue 758
View on ClinVar β†—
Related Genes
CFAP65Shared pathway30%TBC1D21Shared pathway30%RSPH6AShared pathway30%CFAP47Shared pathway29%CFAP161Shared pathway29%IQUBShared pathway29%
Tissue Expression6 tissues
Heart
100%
Lung
36%
Bone Marrow
21%
Brain
19%
Ovary
17%
Liver
6%
Gene Interaction Network
Click a node to explore
CFAP58CFAP65TBC1D21RSPH6ACFAP47CFAP161IQUB
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.90LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.62–0.90]
RankingsWhere CFAP58 stands among ~20K protein-coding genes
  • #13,866of 20,598
    Most Researched21
  • #3,442of 5,498
    Most Pathogenic Variants6
  • #8,153of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedCFAP58
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CFAP58 is involved in the sperm head shaping and flagellogenesis of cattle and mice.
PMID: 38602507
Development Β· 2024
1.00
2
A novel mutation in CFAP58 leads to MMAF in humans and mice by disrupting CP assembly.
PMID: 40675161
Hum Mol Genet Β· 2025
0.90
3
Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.
PMID: 33314088
Clin Genet Β· 2021
0.80
4
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.
PMID: 32791035
Am J Hum Genet Β· 2020
0.70
5
Whole exome sequencing analyses reveal novel genes in telomere length and their biomedical implications.
PMID: 38837026
Geroscience Β· 2024
0.60