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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CFAP157
cilia and flagella associated protein 157
Chromosome 9 Β· 9q34.11
NCBI Gene: 286207Ensembl: ENSG00000160401.15HGNC: HGNC:27843UniProt: Q5JU67
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
microtubule bindingsperm axoneme assemblyciliary basal bodyciliumalcohol drinkingmathematical abilityazoospermiaspermatogenic failure 65
✦AI Summary

Based on limited published evidence, CFAP157 is a cilia and flagella-associated protein specifically required for spermatogenesis, flagellum morphogenesis, and sperm motility 1. It functions in sperm axoneme assembly and microtubule binding at the ciliary basal body, likely suppressing supernumerary axoneme formation to ensure proper ultrastructure. CFAP157 was identified as a candidate gene variant in congenital heart disease patients with laterality defects 2, and its expression appears associated with ciliated epithelial cell populations in respiratory tissues.

Sources cited
1
CFAP157 identified as part of epithelial gene signature detected in columnar epithelial cells in sputum samples
PMID: 31264263
2
CFAP157 identified as candidate gene variant in CHD patients with laterality defects via whole-exome sequencing
PMID: 40467998
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
alcohol drinkingOpen Targets
0.19Weak
mathematical abilityOpen Targets
0.16Weak
azoospermiaOpen Targets
0.10Weak
spermatogenic failure 65Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.08Suggestive
spermatogenic failure 72Open Targets
0.08Suggestive
spermatogenic failure 84Open Targets
0.08Suggestive
spermatogenic failure 93Open Targets
0.08Suggestive
spermatogenic failure 18Open Targets
0.08Suggestive
spermatogenic failure 27Open Targets
0.08Suggestive
spermatogenic failure 46Open Targets
0.08Suggestive
spermatogenic failure 56Open Targets
0.08Suggestive
spermatogenic failure 92Open Targets
0.08Suggestive
spermatogenic failure 94Open 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, X-linked, 3Open Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CFAP97D1Shared pathway100%ARMC2Shared pathway50%CFAP47Shared pathway50%TTC12Shared pathway50%TPGS1Shared pathway50%DNAH12Shared pathway33%
Tissue Expression6 tissues
Lung
100%
Ovary
21%
Bone Marrow
17%
Liver
17%
Heart
12%
Brain
8%
Gene Interaction Network
Click a node to explore
CFAP157CFAP97D1ARMC2CFAP47TTC12TPGS1DNAH12
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5JU67
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.61–1.00]
RankingsWhere CFAP157 stands among ~20K protein-coding genes
  • #17,022of 20,598
    Most Researched10
  • #9,633of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedCFAP157
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
The prevalence of laterality defects in patients with congenital heart disease.
PMID: 40467998
J Hum Genet Β· 2025
1.00
2
Dysregulation of sputum columnar epithelial cells and products in distinct asthma phenotypes.
PMID: 31264263
Clin Exp Allergy Β· 2019
0.50