ZAN Gene (Zonadhesin)
ZAN: Gene encoding zonadhesin, a sperm-specific protein involved in species-specific zona pellucida adhesion
Gene Information Card
| Symbol | ZAN |
|---|---|
| Full Name | zonadhesin |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 7455 ncbi.nlm.nih.gov/gene/7455 |
| Ensembl ID | ENSG00000105849 |
| UniProt ID | Q9Y493 |
| OMIM ID | 602372 |
| HGNC ID | 12858 |
| Aliases | ZAN, zonadhesin, sperm-specific protein |
Description
The ZAN gene encodes zonadhesin, a large, sperm-specific transmembrane protein that mediates species-specific adhesion of sperm to the zona pellucida of the egg. It contains multiple von Willebrand factor type D (VWD) domains and a mucin-like region, and is essential for fertilization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (sperm-zona pellucida binding defects) | Loss-of-function variants in ZAN impair sperm adhesion to the zona pellucida, leading to fertilization failure. | ClinVar, OMIM |
| Asthenozoospermia (sperm motility defects) | Some ZAN variants may affect sperm motility indirectly through structural changes. | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected (nTPM < 1) |
| Fallopian tube | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
| Prostate | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | ZAN is expressed specifically in spermatids and mature sperm; not in standard cell lines. |
| Testis cell lines (e.g., NT2/D1) | N/A | Low or absent expression in most cell lines; expression is restricted to post-meiotic germ cells. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Premature stop; loss of protein function |
| c.2567G>A (p.Gly856Asp) | Missense | Rare | Potential disruption of VWD domain structure |
| c.3456_3457del (p.Glu1152fs) | Frameshift | Rare | Loss of function due to truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ZAN lead to truncated or absent zonadhesin, impairing sperm-zona pellucida adhesion and causing male infertility.
Gain of Function (GOF)
No gain-of-function mutations reported for ZAN.
Dominant Negative (DN)
No dominant-negative mutations reported for ZAN.
View complete mutation data：
Gene Ontology (GO)
| • single fertilization (GO:0007338) | • binding of sperm to zona pellucida (GO:0007339) |
| • sperm-egg recognition (GO:0032194) | • protein binding (GO:0005515) |
| • plasma membrane (GO:0005886) |
Pathways
• Fertilization (sperm-egg binding and fusion)
Protein Summary
Zonadhesin is a large, multidomain transmembrane protein (approx. 3,500 amino acids) expressed exclusively in spermatids and mature sperm. It contains multiple von Willebrand factor type D (VWD) domains, a mucin-like region, and a transmembrane domain. Zonadhesin localizes to the sperm acrosomal membrane and mediates species-specific adhesion to the zona pellucida, a critical step in fertilization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZAN Knockout HEK293 Cell Line | EDJ-KQ6009 | Human | 7455 | Details Get a Quote |
| ZAN Knockout HeLa Cell Line | EDJ-KQ54745 | Human | 7455 | Details Get a Quote |
| ZAN Knockout A-549 Cell Line | EDJ-KQ63239 | Human | 7455 | Details Get a Quote |
| ZAN Knockout HCT 116 Cell Line | EDJ-KQ71703 | Human | 7455 | Details Get a Quote |
