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GeneE
3 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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IZUMO4
IZUMO family member 4
Chromosome 19 · 19p13.3
NCBI Gene: 113177Ensembl: ENSG00000099840.14HGNC: HGNC:26950UniProt: A0A0A0MS61
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusextracellular regiontype 1 diabetes nephropathygeneralised epilepsyaortic aneurysmadolescent idiopathic scoliosis
✦AI Summary

IZUMO4 is a testis-enriched gene encoding a ~25 kDa protein localized to the acrosomal region of sperm 1. The primary function of IZUMO4 involves participation in sperm-oocyte interaction during fertilization. Mechanistically, IZUMO4 proteins are immunodetected in sperm extracts and localize to both acrosome-intact and acrosome-reacted cells 1. Blocking IZUMO4 with specific antibodies significantly reduces fertilization outcomes, including lower zona pellucida penetration (CPA), hemizona binding (HZA), and sperm-perivitelline space interaction (SPA) rates 1. Protein modeling suggests IZUMO4 interacts with oocyte JUNO, essential for gamete fusion 1. Regarding clinical significance, IZUMO4 transcript levels are significantly reduced in teratozoospermic men 1, indicating potential diagnostic value as a biomarker for male infertility. Notably, IZUMO4 knockout mice display normal male fertility, suggesting the gene is individually dispensable for reproduction in mice 2. However, IZUMO4 dysregulation has been observed in smoking males post-COVID-19 infection, correlating with impaired sperm function 3, suggesting environmental and pathogenic factors may impact IZUMO4 expression and male reproductive health.

Sources cited
1
IZUMO4 is testis-enriched, encodes a ~25 kDa protein localized to sperm acrosomal region, and participates in sperm-oocyte interaction and fertilization
PMID: 40760720
2
Anti-IZUMO4 antibodies reduce gamete interaction rates (CPA, HZA, SPA) and impair IZUMO4-JUNO protein interactions
PMID: 40760720
3
IZUMO4 transcript levels are reduced in teratozoospermic men, suggesting potential as a male infertility biomarker
PMID: 40760720
4
IZUMO4 knockout mice show normal fertility, indicating the gene is individually dispensable for male reproduction
PMID: 40572022
5
IZUMO4 is dysregulated in smoking males post-COVID-19 infection, correlating with impaired sperm function
PMID: 39406274
Disease Associationsⓘ20
type 1 diabetes nephropathyOpen Targets
0.02Suggestive
generalised epilepsyOpen Targets
0.02Suggestive
aortic aneurysmOpen Targets
0.02Suggestive
adolescent idiopathic scoliosisOpen Targets
0.02Suggestive
Tietze syndromeOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
myxosarcomaOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
meningeal tuberculosisOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
cholangiocarcinomaOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
squamous cell lung carcinomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IZUMO3Protein interaction85%IZUMO2Protein interaction82%IZUMO1Protein interaction75%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
28%
Liver
26%
Lung
16%
Heart
15%
Brain
13%
Gene Interaction Network
Click a node to explore
IZUMO4IZUMO3IZUMO2IZUMO1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q1ZYL8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.65LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.30 [1.04–1.65]
RankingsWhere IZUMO4 stands among ~20K protein-coding genes
  • #17,620of 20,598
    Most Researched8
  • #15,883of 17,882
    Most Constrained (LOEUF)1.65
Genes detectedIZUMO4
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Mouse genome engineering uncovers 18 genes dispensable for male reproduction.
PMID: 40572022
Andrology · 2026
1.00
2
Uncovering the Role of IZUMO Family Members in Human Fertilization.
PMID: 40760720
Mol Reprod Dev · 2025
0.67
3
Investigating the effects of COVID-19 on sperm in male smokers: A prospective integrated proteomic and metabolomic study.
PMID: 39406274
Reprod Toxicol · 2024
0.33