IZUMO3 Gene

HGNC Family IZUMO family (IZUMO)
Name IZUMO family member 3
Description Predicted to enable protein homodimerization activity. Predicted to be involved in acrosome assembly. Predicted to be located in inner acrosomal membrane. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n IZUMO3 is a testis‐specific transmembrane protein that belongs to the IZUMO family of sperm proteins involved in fertilization. Initial characterization revealed that, similar to other family members, IZUMO3 contains a conserved N‐terminal “Izumo domain” capable of mediating protein dimerization and contributing to the formation of larger multiprotein complexes at the sperm membrane."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Recent functional studies have demonstrated that disruption of the IZUMO3 gene in round spermatids causes mispositioning of the acrosomal granule, which in turn compromises acrosome biogenesis and results in malformed spermatozoa with suboptimal fertilizing capacity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Molecular evolutionary analyses further suggest a role for IZUMO3 in species-specific adaptations to fertilization, with evidence of positive selection in Primates that may affect serine residues important for posttranslational modifications or protein localization."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Together, these findings indicate that IZUMO3 not only contributes to the structural organization of the sperm fusion machinery but is also critical for proper acrosome formation, which is essential for male fertility.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Diego A Ellerman, Jimin Pei, Surabhi Gupta, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Izumo is part of a multiprotein family whose members form large complexes on mammalian sperm."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Reprod Dev (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mrd.21092"}], "href": "https://doi.org/10.1002/mrd.21092"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19658160"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19658160"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Naokazu Inoue, Yuhkoh Satouh, Ikuo Wada "}, {"type": "b", "children": [{"type": "t", "text": "IZUMO family member 3, IZUMO3, is involved in male fertility through the acrosome formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Reprod Dev (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mrd.23520"}], "href": "https://doi.org/10.1002/mrd.23520"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34114279"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34114279"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Phil Grayson, Alberto Civetta "}, {"type": "b", "children": [{"type": "t", "text": "Positive Selection and the Evolution of izumo Genes in Mammals."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Evol Biol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2012/958164"}], "href": "https://doi.org/10.1155/2012/958164"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22957301"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22957301"}]}]}]}
Synonyms C9ORF134, BA20A20.1
Proteins IZUM3_HUMAN
NCBI Gene ID 100129669
API
Download Associations
Predicted Functions View IZUMO3's ARCHS4 Predicted Functions.
Co-expressed Genes View IZUMO3's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View IZUMO3's ARCHS4 Predicted Functions.

Functional Associations

IZUMO3 has 1,600 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 49 datasets.

Click the + buttons to view associations for IZUMO3 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles tissues with high or low expression of IZUMO3 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of IZUMO3 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of IZUMO3 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of IZUMO3 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of IZUMO3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of IZUMO3 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing IZUMO3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing IZUMO3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores cellular components co-occuring with IZUMO3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with IZUMO3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of IZUMO3 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with IZUMO3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by IZUMO3 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with IZUMO3 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with IZUMO3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with IZUMO3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at IZUMO3 gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of IZUMO3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of IZUMO3 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GEO Signatures of Differentially Expressed Genes for Diseases disease perturbations changing expression of IZUMO3 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of IZUMO3 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of IZUMO3 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of IZUMO3 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GO Cellular Component Annotations 2015 cellular components containing IZUMO3 protein from the curated GO Cellular Component Annotations 2015 dataset.
GO Cellular Component Annotations 2025 cellular components containing IZUMO3 protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2015 molecular functions performed by IZUMO3 gene from the curated GO Molecular Function Annotations 2015 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by IZUMO3 gene from the curated GO Molecular Function Annotations 2023 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by IZUMO3 gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of IZUMO3 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of IZUMO3 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with IZUMO3 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
HPA Tissue Protein Expression Profiles tissues with high or low expression of IZUMO3 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for IZUMO3 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of IZUMO3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of IZUMO3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of IZUMO3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain IZUMO3 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by IZUMO3 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of IZUMO3 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations gene perturbations changing expression of IZUMO3 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PFOCR Pathway Figure Associations 2024 pathways involving IZUMO3 protein from the Wikipathways PFOCR 2024 dataset.
Reactome Pathways 2014 pathways involving IZUMO3 protein from the Reactome Pathways dataset.
Reactome Pathways 2024 pathways involving IZUMO3 protein from the Reactome Pathways 2024 dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of IZUMO3 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of IZUMO3 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of IZUMO3 gene from the RummaGEO Gene Perturbation Signatures dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of IZUMO3 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores tissues co-occuring with IZUMO3 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with IZUMO3 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.