ZP2 Chromosome 16
Zona pellucida glycoprotein 2
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What This Gene Does
The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed of three glycoproteins with various functions during fertilization and preimplantation development. The glycosylated mature peptide is one of the structural components of the zona pellucida and functions in secondary binding and penetration of acrosome-reacted spermatozoa. Female mice lacking this gene do not form a stable zona matrix and are sterile. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
Zona pellucida glycoproteins
Locus Type
gene with protein product
Location
16p12.3-p12.2
Ensembl
ENSG00000103310
Associated Conditions (1)
Oocyte maturation defect 6
Key Variants
RS145538948
Conflicting classifications of pathogenicity
Health Risk
RS766836952
Conflicting classifications of pathogenicity
Health Risk
RS772233041
Likely pathogenic
Oocyte maturation defect 6, Oocyte maturation defect 6
Health Risk
RS1156454797
Pathogenic
Oocyte maturation defect 6, Oocyte maturation defect 6
Health Risk
RS1567212569
Pathogenic
Oocyte maturation defect 6, Oocyte maturation defect 6
Health Risk
RS755714246
Pathogenic
Oocyte maturation defect 6, Oocyte maturation defect 6
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145538948 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766836952 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772233041 | Health Risk | Likely pathogenic | Oocyte maturation defect 6, Oocyte maturation defect 6 |
| RS1156454797 | Health Risk | Pathogenic | Oocyte maturation defect 6, Oocyte maturation defect 6 |
| RS1567212569 | Health Risk | Pathogenic | Oocyte maturation defect 6, Oocyte maturation defect 6 |
| RS755714246 | Health Risk | Pathogenic | Oocyte maturation defect 6, Oocyte maturation defect 6 |