IZUMO2 Gene - IZUMO Family Member 2
Comprehensive genomic and functional analysis of IZUMO2, a key player in sperm-egg fusion.
Gene Information Card
| Symbol | IZUMO2 |
|---|---|
| Full Name | IZUMO family member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 126123 ncbi.nlm.nih.gov/gene/126123 |
| Ensembl ID | ENSG00000188234 |
| UniProt ID | Q6P3W7 |
| OMIM ID | 610688 |
| HGNC ID | 28457 |
| Aliases | FLJ40343, IZUMO2, IZUMO family member 2 |
Description
IZUMO2 (IZUMO family member 2) is a protein-coding gene located on chromosome 19q13.33. It encodes a protein involved in sperm-egg fusion during fertilization. The IZUMO family includes IZUMO1, which is essential for gamete fusion, and IZUMO2 is thought to play a supporting role in this process. Expression is primarily testis-specific, and mutations may contribute to male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | IZUMO2 mutations may impair sperm-egg fusion, leading to fertilization failure. | Limited evidence from case studies and animal models. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Fallopian tube | 0.3 | Low |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not expressed |
| K-562 | 0.0 | Not expressed |
| Testis-derived cell lines | Not available | Data not available |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, predicted loss of function |
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or introduce premature stop codons are predicted to cause loss of function, potentially impairing fertilization.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • single fertilization (GO:0007338) | • fusion of sperm to egg plasma membrane (GO:0007342) |
| • plasma membrane (GO:0005886) |
Pathways
• Fertilization pathway (Reactome: R-HSA-1187000)
Protein Summary
IZUMO2 is a 200-amino acid protein with a single transmembrane domain, localized to the sperm plasma membrane. It is structurally related to IZUMO1 and may form complexes with other IZUMO family members to facilitate membrane fusion during fertilization. Expression is highly enriched in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IZUMO2 Knockout HEK293 Cell Line | EDJ-KQ8861 | Human | 126123 | Details Get a Quote |
| IZUMO2 Knockout HeLa Cell Line | EDJ-KQ58166 | Human | 126123 | Details Get a Quote |
| IZUMO2 Knockout A-549 Cell Line | EDJ-KQ66654 | Human | 126123 | Details Get a Quote |
| IZUMO2 Knockout HCT 116 Cell Line | EDJ-KQ75072 | Human | 126123 | Details Get a Quote |
