ZP2
Chr 16ARzona pellucida glycoprotein 2
Also known as: OOMD6, OZEMA6, ZPA, Zp-2
ZP2 encodes zona pellucida glycoprotein 2, a structural component of the extracellular matrix surrounding oocytes that mediates sperm binding and prevents polyspermy after fertilization. Biallelic mutations cause oocyte/zygote/embryo maturation arrest 6, an autosomal recessive condition leading to female infertility due to defective zona pellucida formation. The gene shows low constraint to loss-of-function variation, consistent with its specialized reproductive function that does not affect viability.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
185 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 | 5 | 1 | 14 | 0 | 20 |
Likely Pathogenic | 2 | 1 | 0 | 0 | 3 |
VUS | 3 | 118 | 6 | 0 | 127 |
Likely Benign | 0 | 11 | 4 | 9 | 24 |
Benign | 0 | 2 | 2 | 3 | 7 |
Conflicting | — | 3 | |||
| Total | 10 | 133 | 26 | 12 | 184 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZP2 · 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