FREY1 Gene: Function, Expression, and Clinical Significance
Comprehensive resource on FREY1 (Frey regulator of sperm-oocyte fusion 1) - genomic information, expression, mutations, and more.
Gene Information Card
| Symbol | FREY1 |
|---|---|
| Full Name | Frey regulator of sperm-oocyte fusion 1 |
| Gene Type | gene with protein product |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 143678 ncbi.nlm.nih.gov/gene/143678 |
| Ensembl ID | ENSG00000234776 |
| UniProt ID | C9JXX5 |
| OMIM ID | Not available |
| HGNC ID | HGNC:37213 |
| Aliases | Frey, C11orf94 |
Description
FREY1 (Frey regulator of sperm-oocyte fusion 1) is a protein-coding gene located on chromosome 11p11.2. It is also known as Frey or C11orf94. The gene is involved in the regulation of sperm-oocyte fusion, a critical step in fertilization. FREY1 encodes a protein that is likely to play a role in the interaction between sperm and egg during fertilization. Research on FREY1 is ongoing to fully understand its molecular functions and potential implications in fertility and reproductive health.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fertility disorders | Potential involvement in sperm-oocyte fusion defects | Inferred from gene function; direct clinical evidence not yet established |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Expected high expression based on function |
| Ovary | Not available | Expected expression in oocytes |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | Not available | Likely expressed in mature sperm |
| Oocytes | Not available | Likely expressed in oocytes |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Not available | Not available | Not available | No known mutations reported in public databases |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: Not yet annotated | • Biological process: sperm-oocyte fusion (inferred from gene name) |
| • Cellular component: Not yet annotated |
Pathways
• Fertilization pathway (inferred from function)
Protein Summary
The FREY1 protein is predicted to be involved in sperm-oocyte fusion. Its exact molecular function and structure are under investigation. The protein sequence is available from UniProt (C9JXX5), but functional domains and interactions are not yet characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FREY1 Knockout HEK293 Cell Line | EDJ-KQ13517 | Human | 143678 | Details Get a Quote |
| FREY1 Knockout HeLa Cell Line | EDJ-KQ58493 | Human | 143678 | Details Get a Quote |
| FREY1 Knockout A-549 Cell Line | EDJ-KQ66982 | Human | 143678 | Details Get a Quote |
| FREY1 Knockout HCT 116 Cell Line | EDJ-KQ75381 | Human | 143678 | Details Get a Quote |
