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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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IZUMO2
IZUMO family member 2
Chromosome 19 · 19q13.33
NCBI Gene: 126123Ensembl: ENSG00000161652.14HGNC: HGNC:28518UniProt: Q6UXV1
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
membranehypertrophic cardiomyopathyRare familial disorder with hypertrophic cardiomyopathyFamilial progressive cardiac conduction defectRomano-Ward syndrome
✦AI Summary

IZUMO2 is an immunoglobulin-like type I membrane protein (~23 kDa) with dual roles in reproductive and cancer biology. In male reproduction, IZUMO2 is testis-enriched and expressed from puberty onward, localizing to the acrosomal region of sperm 1. It participates in sperm-oocyte interaction, as anti-IZUMO2 antibodies significantly reduce hemizona assay rates, indicating involvement in gamete fusion 1. IZUMO2 expression is reduced in teratozoospermic men and significantly downregulated in round spermatids of non-obstructive azoospermia patients, suggesting clinical relevance for male infertility diagnosis 12. Notably, 40% of immunoinfertile women developed circulating antibodies against IZUMO2 epitopes, implicating immune responses against this fertility antigen 3. Beyond reproduction, IZUMO2 exhibits pathological functions in cancer biology. It facilitates the cell-in-cell phenomenon whereby triple-negative breast cancer cells engulf regulatory T cells, promoting cancer cell survival 4. In colorectal cancer, IZUMO2 is a methylation-driven gene associated with poor prognosis, with protein expression at invasion fronts independently predicting shorter overall and progression-free survival 56. These findings establish IZUMO2 as both a potential biomarker for male infertility assessment and a prognostic indicator in solid tumors.

Sources cited
1
IZUMO2 is testis-enriched, localized to the acrosomal region, and essential for sperm-oocyte interaction and hemizona assay performance
PMID: 40760720
2
IZUMO2 is significantly downregulated in round spermatids of non-obstructive azoospermia patients
PMID: 40409516
3
40% of immunoinfertile women develop circulating antibodies against IZUMO2 peptide epitopes
PMID: 23279005
4
IZUMO2 facilitates cell-in-cell phenomenon in triple-negative breast cancer by enabling engulfment of regulatory T cells
PMID: 38258402
5
IZUMO2 is a methylation-driven prognostic biomarker in colorectal cancer risk stratification
PMID: 33203797
6
IZUMO2 protein expression at invasion fronts independently predicts poor overall and progression-free survival in colorectal cancer
PMID: 38484656
Disease Associationsⓘ20
hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.08Suggestive
Romano-Ward syndromeOpen Targets
0.08Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.07Suggestive
Brugada syndromeOpen Targets
0.07Suggestive
Familial short QT syndromeOpen Targets
0.07Suggestive
familial atrial fibrillationOpen Targets
0.07Suggestive
Idiopathic ventricular fibrillation, not Brugada typeOpen Targets
0.07Suggestive
sudden cardiac arrestOpen Targets
0.07Suggestive
dilated cardiomyopathyOpen Targets
0.06Suggestive
cardiomyopathy, dilated, 2IOpen Targets
0.06Suggestive
cardiac conduction defectOpen Targets
0.06Suggestive
Atrial stand stillOpen Targets
0.06Suggestive
ventricular fibrillation, paroxysmal familial, type 1Open Targets
0.06Suggestive
His bundle tachycardiaOpen Targets
0.05Suggestive
Brugada syndrome 1Open Targets
0.05Suggestive
ventricular tachycardia, familialOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IZUMO3Protein interaction85%IZUMO4Protein interaction82%IZUMO1Protein interaction75%
Tissue Expression6 tissues
Ovary
100%
Lung
93%
Liver
93%
Brain
57%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
IZUMO2IZUMO3IZUMO4IZUMO1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6UXV1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.56–1.25]
RankingsWhere IZUMO2 stands among ~20K protein-coding genes
  • #18,099of 20,598
    Most Researched6
  • #13,210of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedIZUMO2
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Uncovering the Role of IZUMO Family Members in Human Fertilization.
PMID: 40760720
Mol Reprod Dev · 2025
1.00
2
Analysis of DNA methylation-driven genes for predicting the prognosis of patients with colorectal cancer.
PMID: 33203797
Aging (Albany NY) · 2020
0.83
3
Deciphering the regulatory networks of human male germline development from embryo to adulthood.
PMID: 40409516
Biochim Biophys Acta Mol Basis Dis · 2025
0.67
4
Presence and incidence of izumo antibodies in sera of immunoinfertile women and men.
PMID: 23279005
Am J Reprod Immunol · 2013
0.50
5
Implication of IZUMO2 in the cell-in-cell phenomenon: A potential therapeutic target for triple-negative breast cancer.
PMID: 38258402
Thorac Cancer · 2024
0.33