IZUMO1R
protein-codingIZUMO1 receptor, JUNO, the group of Ig-like cell adhesion molecule family
Gene summary
Enables signaling receptor activity. Involved in fusion of sperm to egg plasma membrane involved in single fertilization. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
- FOLR4
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~3.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to IZUMO1R variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001199206.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 42 | 1 | 43 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 43 | 1 | 0 | 44 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001186135.1 | 4 | MANE Select | |
| Ensembl | ENSP00000510041.1 | 4 | MANE Select | |
| RefSeq | NP_001380539.1 | 4 | Standard | |
| Ensembl | ENSP00000332963.5 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Endocytosis - Homo sapiens (human)
- Folate Metabolism
- Post-translational modification: synthesis of GPI-anchored proteins
- Post-translational protein modification
- Metabolism of proteins
Biological Process
- cell adhesion
- single fertilization
- fusion of sperm to egg plasma membrane involved in single fertilization
- sperm-egg recognition
Molecular Function
- signaling receptor binding
- protein binding
- folic acid binding
- signaling receptor activity
Cellular Component
- extracellular region
- plasma membrane
- anchored component of external side of plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000440961
- Coding exons
- 4
- Length
- 2129
- Individuals with no LoFs
- 124830
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 219
- Defined
- 125051
- p
- 0.000884
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.342 | 151 | 140 | 1.08 | 0.00000815 | 1599 |
| Missense (PolyPhen) | 54 | 54.038 | 0.99929 | 669 | ||
| Synonymous | -0.804 | 62 | 54.5 | 1.14 | 0.00000307 | 448 |
| Loss of Function | -1.78 | 18 | 11.5 | 1.57 | 5.78e-7 | 110 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00052 | 0.00051 | rare |
| Latino/Admixed American | 0.00088 | 0.00084 | rare |
| Ashkenazi Jewish | 0.00071 | 0.00070 | rare |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.000094 | 0.000093 | rare |
| European (Non-Finnish) | 0.0013 | 0.0012 | notable |
| South Asian | 0.0011 | 0.00098 | notable |
| Other | 0.0012 | 0.00099 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Receptor for IZUMO1 present at the cell surface of oocytes (oolemma), which is essential for species-specific gamete recognition and fertilization. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion. The ligand-receptor interaction probably does not act as a membrane 'fusogen'. Does not bind folate. {ECO:0000250|UniProtKB:Q9EQF4}.;
Essentials
- Essential (gene trap)
- N