ZP4 (Zona Pellucida Glycoprotein 4)
Key structural component of the oocyte extracellular matrix involved in fertilization and early embryonic development
Gene Information Card
| Symbol | ZP4 |
|---|---|
| Full Name | Zona Pellucida Glycoprotein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q43 |
| NCBI Gene ID | 57829 ncbi.nlm.nih.gov/gene/57829 |
| Ensembl ID | ENSG00000116918 |
| UniProt ID | Q12836 |
| OMIM ID | 613514 |
| HGNC ID | 13188 |
| Aliases | ZP1, ZPB, Zp-4, ZPA |
Description
ZP4 encodes a glycoprotein that is a major component of the zona pellucida, the extracellular matrix surrounding the oocyte. This protein plays a critical role in species-specific sperm binding, acrosome reaction induction, and protection of the oocyte during early development. ZP4 is expressed exclusively in the ovary and is essential for fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Female infertility due to zona pellucida defect | Loss-of-function mutations in ZP4 disrupt zona pellucida formation, preventing sperm binding and fertilization. | ClinVar, OMIM |
| Ovarian failure | Reduced or absent ZP4 expression leads to abnormal oocyte development and premature ovarian insufficiency. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | High |
| Fallopian tube | 0.3 | Low |
| Testis | 0.1 | Not detected |
| Uterus | 0.2 | Low |
| Breast | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| OVCAR-3 (ovarian cancer) | 8.2 | Moderate expression |
| SK-OV-3 (ovarian cancer) | 6.7 | Moderate expression |
| HeLa (cervical) | 0.1 | Not detected |
| MCF7 (breast) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Premature stop, loss of function |
| c.789_790del (p.Gln264fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported ZP4 mutations are loss-of-function, leading to truncated or absent protein, resulting in defective zona pellucida and infertility.
Gain of Function (GOF)
No gain-of-function mutations reported for ZP4.
Dominant Negative (DN)
No dominant-negative mutations reported for ZP4.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Fertilization (Reactome: R-HSA-1187000)
• Oocyte maturation (KEGG: hsa04914)
Protein Summary
ZP4 is a 540-amino-acid glycoprotein with a signal peptide, a zona pellucida domain (ZP domain), and a C-terminal transmembrane region. It is secreted by oocytes and assembled into the zona pellucida matrix. The protein contains N-glycosylation sites essential for sperm receptor function. ZP4 interacts with ZP2 and ZP3 to form the filamentous structure of the zona pellucida.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LUZP4 Knockout HEK293 Cell Line | EDJ-KQ10978 | Human | 51213 | Details Get a Quote |
| ZP4 Knockout HEK293 Cell Line | EDJ-KQ16405 | Human | 57829 | Details Get a Quote |
| LUZP4 Knockout HeLa Cell Line | EDJ-KQ56253 | Human | 51213 | Details Get a Quote |
| ZP4 Knockout HeLa Cell Line | EDJ-KQ56925 | Human | 57829 | Details Get a Quote |
| LUZP4 Knockout A-549 Cell Line | EDJ-KQ64742 | Human | 51213 | Details Get a Quote |
| ZP4 Knockout A-549 Cell Line | EDJ-KQ65430 | Human | 57829 | Details Get a Quote |
| LUZP4 Knockout HCT 116 Cell Line | EDJ-KQ73187 | Human | 51213 | Details Get a Quote |
| ZP4 Knockout HCT 116 Cell Line | EDJ-KQ73868 | Human | 57829 | Details Get a Quote |
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