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GeneE
0 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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FREY1
Frey regulator of sperm-oocyte fusion 1
Chromosome 11 Β· 11p11.2
NCBI Gene: 143678Ensembl: ENSG00000234776.5HGNC: HGNC:37213UniProt: C9JXX5
3PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulum membranefusion of sperm to egg plasma membrane involved in single fertilizationsperm-egg recognitionmaintenance of protein localization in endoplasmic reticulumSAPHO syndromeazoospermiaMale infertility with spermatogenesis disorder due to single gene mutationRare genetic female infertility
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

Frey regulator of sperm-oocyte fusion 1

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
SAPHO syndromeOpen Targets
0.14Weak
azoospermiaOpen Targets
0.09Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.09Suggestive
Rare genetic female infertilityOpen Targets
0.09Suggestive
Female infertility due to fertilization defectOpen Targets
0.08Suggestive
spermatogenic failure 3Open Targets
0.08Suggestive
spermatogenic failure 55Open Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 61Open Targets
0.07Suggestive
spermatogenic failure 62Open Targets
0.07Suggestive
spermatogenic failure 88Open Targets
0.07Suggestive
spermatogenic failure 59Open Targets
0.07Suggestive
spermatogenic failure 60Open Targets
0.07Suggestive
spermatogenic failure 73Open Targets
0.07Suggestive
spermatogenic failure 74Open Targets
0.07Suggestive
spermatogenic failure 16Open Targets
0.07Suggestive
spermatogenic failure 21Open Targets
0.07Suggestive
oocyte maturation defect 14Open Targets
0.07Suggestive
oocyte maturation defect 5Open Targets
0.07Suggestive
spermatogenic failure 87Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
DCST2Shared pathway67%SPACA6Shared pathway67%IZUMO1RShared pathway40%SPESP1Shared pathway40%DCST1Shared pathway40%IZUMO1Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
40%
Ovary
18%
Lung
10%
Brain
8%
Heart
0%
Gene Interaction Network
Click a node to explore
FREY1DCST2SPACA6IZUMO1RSPESP1DCST1IZUMO1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt C9JXX5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.58LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.92 [0.55–1.58]
RankingsWhere FREY1 stands among ~20K protein-coding genes
  • #18,859of 20,598
    Most Researched3
  • #15,569of 17,882
    Most Constrained (LOEUF)1.58
Genes detectedFREY1
Sources retrieved0 papers
Response timeβ€”