ZPBP2
Zona Pellucida Binding Protein 2
Gene Information Card
| Symbol | ZPBP2 |
|---|---|
| Full Name | Zona Pellucida Binding Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 124626 ncbi.nlm.nih.gov/gene/124626 |
| Ensembl ID | ENSG00000187713 |
| UniProt ID | Q6X784 |
| OMIM ID | 608221 |
| HGNC ID | 16265 |
| Aliases | ZPBP2, ZPBP-like, ZPBP2L |
Description
ZPBP2 (Zona Pellucida Binding Protein 2) is a protein-coding gene located on chromosome 17q12. It encodes a protein involved in sperm-egg binding during fertilization, specifically interacting with the zona pellucida. The gene is primarily expressed in testis and plays a role in spermatogenesis. Mutations in ZPBP2 have been associated with male infertility due to defects in sperm-zona pellucida interaction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (sperm-zona pellucida binding defects) | Loss-of-function mutations impair sperm binding to the zona pellucida, preventing fertilization. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Fallopian tube | 1.2 | Low |
| Prostate | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 12.5 | High expression |
| HeLa (cervical carcinoma) | 0.3 | Low expression |
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.235C>T (p.Arg79*) | nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt protein structure or expression lead to loss of function, impairing sperm-zona pellucida binding.
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)
| • sperm-egg recognition | • binding of sperm to zona pellucida |
| • extracellular region | • fertilization |
Pathways
• Fertilization
• Sperm-egg interaction
Protein Summary
ZPBP2 encodes a 267-amino acid protein that contains a zona pellucida (ZP) domain. The protein is secreted and localizes to the sperm surface, facilitating binding to the zona pellucida of the oocyte. It is essential for successful fertilization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZPBP2 Knockout HEK293 Cell Line | EDJ-KQ8614 | Human | 124626 | Details Get a Quote |
| ZPBP2 Knockout HeLa Cell Line | EDJ-KQ58137 | Human | 124626 | Details Get a Quote |
| ZPBP2 Knockout A-549 Cell Line | EDJ-KQ66624 | Human | 124626 | Details Get a Quote |
| ZPBP2 Knockout HCT 116 Cell Line | EDJ-KQ75041 | Human | 124626 | Details Get a Quote |
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