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GeneE
2 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.
IZUMO3
IZUMO family member 3
Chromosome 9 Β· 9p21.3
NCBI Gene: 100129669Ensembl: ENSG00000205442.13HGNC: HGNC:31421UniProt: Q5VZ72
5PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein homodimerization activityacrosome assemblyinner acrosomal membraneplasma membraneopen-angle glaucomaglaucomacholelithiasisresponse to xenobiotic stimulus
✦AI Summary

Based on limited published evidence, IZUMO3 plays an important role in acrosome biogenesis during sperm development, with structural functions including acrosome assembly and inner acrosomal membrane localization, as well as protein homodimerization activity. A genetic association study identified an IZUMO3 locus influencing pediatric bone mineral density in males 1, suggesting potential pleiotropic effects. However, a specific IZUMO3 polymorphism (rs2772579) showed no significant association with male infertility in a Japanese population 2.

Sources cited
1
IZUMO3 locus associated with bone mineral density at multiple skeletal sites in males
PMID: 28181694
2
IZUMO3 polymorphism rs2772579 not associated with azoospermia or oligozoospermia
PMID: 28975488
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
open-angle glaucomaOpen Targets
0.34Weak
glaucomaOpen Targets
0.34Weak
cholelithiasisOpen Targets
0.31Weak
pathological myopiaOpen Targets
0.29Weak
response to xenobiotic stimulusOpen Targets
0.29Weak
poisoningOpen Targets
0.28Weak
cardiac arrestOpen Targets
0.23Weak
gastric cancerOpen Targets
0.19Weak
adolescent idiopathic scoliosisOpen Targets
0.19Weak
cartilage diseaseOpen Targets
0.19Weak
pituitary gland diseaseOpen Targets
0.18Weak
carotid artery diseaseOpen Targets
0.18Weak
dyspepsiaOpen Targets
0.18Weak
Meniere diseaseOpen Targets
0.17Weak
retinal degenerationOpen Targets
0.17Weak
Failure to thriveOpen Targets
0.17Weak
ovarian neoplasmOpen Targets
0.17Weak
Respiratory insufficiencyOpen Targets
0.17Weak
Abnormal pupillary functionOpen Targets
0.16Weak
osteoarthritis, kneeOpen Targets
0.14Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
SPACA1Shared pathway100%GARIN1AShared pathway100%CD9Protein interaction88%IZUMO4Protein interaction85%IZUMO2Protein interaction85%IZUMO1Protein interaction85%
Tissue Expression6 tissues
Brain
100%
Heart
0%
Lung
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
IZUMO3SPACA1GARIN1ACD9IZUMO4IZUMO2IZUMO1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5VZ72
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.66LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.22 [0.91–1.66]
RankingsWhere IZUMO3 stands among ~20K protein-coding genes
  • #18,343of 20,598
    Most Researched5
  • #15,928of 17,882
    Most Constrained (LOEUF)1.66
Genes detectedIZUMO3
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Association of TUSC1 and DPF3 gene polymorphisms with male infertility.
PMID: 28975488
J Assist Reprod Genet Β· 2018
1.00
2
A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites.
PMID: 28181694
J Bone Miner Res Β· 2017
0.50