ZP3: Zona Pellucida Glycoprotein 3

Key Sperm Receptor in Fertilization and Oocyte-Specific Extracellular Matrix

Gene Information Card

Symbol ZP3
Full Name Zona Pellucida Glycoprotein 3 (Sperm Receptor)
Gene Type Protein coding
Chromosomal Location 7q11.23
NCBI Gene ID 7784 ncbi.nlm.nih.gov/gene/7784
Ensembl ID ENSG00000106384
UniProt ID P21754
OMIM ID 182889
HGNC ID 13189
Aliases ZP3A, ZP3B, ZPC

Description

ZP3 encodes a glycoprotein that is a major component of the zona pellucida, the extracellular matrix surrounding the oocyte. ZP3 functions as the primary sperm receptor, mediating species-specific sperm binding and inducing the acrosome reaction, which is essential for fertilization. The gene is expressed exclusively in oocytes and is critical for female fertility.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Female infertility due to zona pellucida defect Loss-of-function mutations in ZP3 disrupt zona pellucida formation, preventing sperm binding and fertilization. ClinVar, OMIM
Oocyte maturation defect ZP3 mutations can lead to abnormal zona pellucida structure, impairing oocyte development and fertilization. NCBI Gene, OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Ovary 0.0 Not detected (oocyte-specific, not in bulk tissue)
Testis 0.0 Not detected
Fallopian tube 0.0 Not detected
Cell Line Expression
Cell Line nTPM Notes
Oocyte High (RNA-seq) Exclusive expression in oocytes
Embryonic stem cells Not detected No 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.400C>T (p.Arg134*) Nonsense Rare Premature stop, loss of function
c.662G>A (p.Trp221*) Nonsense Rare Premature stop, loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense and missense mutations that disrupt ZP3 protein structure or expression lead to loss of sperm receptor function and female infertility.

Gain of Function (GOF)

No gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations reported.

Pathways

Fertilization (Reactome: R-HSA-1187000)
Oocyte maturation (Reactome: R-HSA-1474165)

Protein Summary

ZP3 is a 424-amino acid glycoprotein that forms the zona pellucida matrix together with ZP1, ZP2, and ZP4. It contains a zona pellucida domain (ZP domain) and a C-terminal transmembrane domain. The protein is cleaved and secreted, then polymerizes into filaments. ZP3 specifically binds to sperm surface proteins, triggering the acrosome reaction. Mutations in ZP3 cause female infertility due to defective zona pellucida.

Related Products

Product name Cat.No. Species Gene ID
ZP3 Knockout HEK293 Cell Line EDJ-KQ3462 Human 7784 Details Get a Quote
ZP3 Knockout A-549 Cell Line EDJ-KQ25208 Human 7784 Details Get a Quote
ZP3 Knockout HCT 116 Cell Line EDJ-KQ25209 Human 7784 Details Get a Quote
ZP3 Knockout HeLa Cell Line EDJ-KQ25210 Human 7784 Details Get a Quote
POMZP3 Knockout HEK293 Cell Line EDJ-KQ51071 Human 22932 Details Get a Quote
POMZP3 Knockout HeLa Cell Line EDJ-KQ55659 Human 22932 Details Get a Quote
POMZP3 Knockout A-549 Cell Line EDJ-KQ64159 Human 22932 Details Get a Quote
POMZP3 Knockout HCT 116 Cell Line EDJ-KQ72605 Human 22932 Details Get a Quote
Displaying Records 1 To 8 Of 8 Records
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