ZP4
Chr 1zona pellucida glycoprotein 4
Also known as: ZBP, ZP1, ZP1B, ZPB, ZPB2, Zp-4
ZP4 encodes a glycoprotein component of the zona pellucida, an extracellular matrix surrounding oocytes that mediates sperm binding and prevents polyspermy after fertilization. Mutations cause female infertility due to oocyte maturation defects, inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants, consistent with its specific role in reproductive function rather than essential developmental processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 9 | 0 | 9 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 77 | 1 | 0 | 78 |
Likely Benign | 0 | 10 | 0 | 1 | 11 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 87 | 10 | 1 | 98 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZP4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools