ZP2: Zona Pellucida Glycoprotein 2
Essential for Fertilization and Oocyte-Sperm Binding
Gene Information Card
| Symbol | ZP2 |
|---|---|
| Full Name | Zona Pellucida Glycoprotein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p12.3 |
| NCBI Gene ID | 7783 ncbi.nlm.nih.gov/gene/7783 |
| Ensembl ID | ENSG00000103310 |
| UniProt ID | Q05996 |
| OMIM ID | 182888 |
| HGNC ID | 13188 |
| Aliases | ZPA, Zp-2, ZPG-2 |
Description
ZP2 encodes a glycoprotein that is a major component of the zona pellucida, the extracellular matrix surrounding the oocyte. This protein is essential for species-specific sperm binding and fertilization. It undergoes proteolytic cleavage after fertilization to prevent polyspermy. Mutations in ZP2 are associated with female infertility due to abnormal zona pellucida formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Female infertility due to zona pellucida defect | Loss-of-function mutations in ZP2 disrupt zona pellucida structure, preventing sperm binding or causing empty follicle syndrome. | ClinVar, OMIM |
| Oocyte maturation defect | Missense variants impair protein folding and secretion, leading to thin or absent zona pellucida. | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 48.5 | High |
| Testis | 1.2 | Low |
| Fallopian tube | 0.8 | Low |
| Uterus | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 0.1 | No significant expression |
| HeLa | 0.0 | Not expressed |
| HUVEC | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169C>T (p.Arg57Ter) | Nonsense | Rare | Loss of function; truncated protein |
| c.223G>A (p.Gly75Arg) | Missense | Rare | Impaired secretion; abnormal zona pellucida |
| c.1045C>T (p.Arg349Cys) | Missense | Rare | Disulfide bond disruption; reduced sperm binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent ZP2 protein, causing empty follicle syndrome or thin zona pellucida.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants may act as dominant-negative by disrupting multimerization with ZP1, ZP3, and ZP4.
View complete mutation data：
Gene Ontology (GO)
| • single fertilization (GO:0007338) | • ovarian follicle development (GO:0035802) |
| • structural molecule activity (GO:0005198) | • extracellular region (GO:0005576) |
| • extracellular matrix (GO:0031012) |
Pathways
• Fertilization (Reactome: R-HSA-1187000)
• Oocyte maturation (KEGG: hsa04914)
Protein Summary
ZP2 is a 745-amino-acid glycoprotein with a signal peptide, a zona pellucida domain, and a transmembrane domain. It forms a filamentous matrix with ZP1, ZP3, and ZP4. After fertilization, it is cleaved by ovastacin to prevent additional sperm binding. The protein is highly expressed in oocytes and is essential for fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZP2 Knockout HEK293 Cell Line | EDJ-KQ5414 | Human | 7783 | Details Get a Quote |
| LUZP2 Knockout HEK293 Cell Line | EDJ-KQ12087 | Human | 338645 | Details Get a Quote |
| LUZP2 Knockout HeLa Cell Line | EDJ-KQ40747 | Human | 338645 | Details Get a Quote |
| ZP2 Knockout HeLa Cell Line | EDJ-KQ54795 | Human | 7783 | Details Get a Quote |
| ZP2 Knockout A-549 Cell Line | EDJ-KQ63286 | Human | 7783 | Details Get a Quote |
| LUZP2 Knockout A-549 Cell Line | EDJ-KQ68082 | Human | 338645 | Details Get a Quote |
| ZP2 Knockout HCT 116 Cell Line | EDJ-KQ71753 | Human | 7783 | Details Get a Quote |
| LUZP2 Knockout HCT 116 Cell Line | EDJ-KQ76457 | Human | 338645 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
