HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
1 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CFAP97D1
CFAP97 domain containing 1
Chromosome 17 · 17q21.31
NCBI Gene: 284067Ensembl: ENSG00000231256.8HGNC: HGNC:37241UniProt: B2RV13
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsperm axoneme assemblyosteoporosisbone diseasealcohol drinkingazoospermia
✦AI Summary

Based on limited published evidence, CFAP97D1 is required for male fertility through axonemal doublet stabilization essential for sperm motility. The protein is exclusively expressed in testes and functions in sperm flagellum ultrastructure maintenance 1. CFAP97D1 deletion causes asthenozoospermia and male subfertility, with affected sperm displaying abnormal motility and selective loss of the fourth axonemal doublet 1. The gene is evolutionarily conserved across mammalian and other species, including Chlamydomonas.

Sources cited
1
CFAP97D1 is required for flagellar axoneme maintenance and male fertility; its loss causes sperm motility defects, asthenozoospermia, and axonemal doublet heterogeneity with frequent loss of the fourth doublet
PMID: 32785227
⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsⓘ20
osteoporosisOpen Targets
0.32Weak
bone diseaseOpen Targets
0.29Weak
alcohol drinkingOpen Targets
0.17Weak
azoospermiaOpen Targets
0.09Suggestive
spermatogenic failure 83Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 3Open Targets
0.07Suggestive
spermatogenic failure 55Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure 56Open Targets
0.07Suggestive
spermatogenic failure 92Open Targets
0.07Suggestive
spermatogenic failure 94Open Targets
0.07Suggestive
spermatogenic failure 7Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
spermatogenic failure 27Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
spermatogenic failure 58Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CFAP157Shared pathway100%ARMC2Shared pathway50%CFAP47Shared pathway50%TTC12Shared pathway50%TPGS1Shared pathway50%DNAH12Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Brain
36%
Ovary
32%
Lung
26%
Bone Marrow
19%
Heart
0%
Gene Interaction Network
Click a node to explore
CFAP97D1CFAP157ARMC2CFAP47TTC12TPGS1DNAH12
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt B2RV13
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.57 [0.34–0.99]
RankingsWhere CFAP97D1 stands among ~20K protein-coding genes
  • #17,025of 20,598
    Most Researched10
  • #9,542of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedCFAP97D1
Sources retrieved1 papers
Response time—
📄 Sources
1
1
Cfap97d1 is important for flagellar axoneme maintenance and male mouse fertility.
PMID: 32785227
PLoS Genet · 2020
1.00