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ZP3

Synonyms
OOMD3, ZP3A, ZP3B, ZPC, Zp-3
External resources
Summary
The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
11
Likely pathogenic
0
VUS
21,797
Likely benign
29,520
Benign
8,128

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on ZP3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
45.5%
Abnormality of the nervous system
36.4%
Abnormality of head or neck
18.2%
Abnormality of the genitourinary system
18.2%
Abnormality of the musculoskeletal system
18.2%
Growth abnormality
18.2%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of limbs
9.1%
Abnormality of prenatal development or birth
9.1%
Abnormality of the ear
9.1%
Abnormality of the eye
9.1%
Abnormality of the immune system
9.1%
Abnormality of the integument
9.1%
Abnormality of the respiratory system
9.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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