EQTN (Equatorin)
Sperm acrosome formation and fertility-related gene
Gene Information Card
| Symbol | EQTN |
|---|---|
| Full Name | Equatorin |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 54583 ncbi.nlm.nih.gov/gene/54583 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q9H8L6 |
| OMIM ID | 617543 |
| HGNC ID | 26137 |
| Aliases | SPACA1, Sperm acrosome associated 1 |
Description
EQTN (equatorin) encodes a protein localized to the equatorial segment of the sperm acrosome, essential for acrosome biogenesis and sperm-egg fusion. Mutations in EQTN are associated with male infertility due to acrosomal defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with acrosomal defects | Loss of EQTN disrupts acrosome formation, impairing sperm function | OMIM #617543; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | High expression in mature sperm |
| Testicular germ cells | N/A | Detected in spermatids |
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.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations lead to truncated or absent protein, causing acrosome defects and infertility.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • acrosomal membrane (GO:0002080) | • binding of sperm to zona pellucida (GO:0007339) |
| • sperm-egg fusion (GO:0035039) |
Pathways
• Spermatogenesis
• Fertilization
Protein Summary
Equatorin is a 36 kDa transmembrane protein predominantly expressed in the acrosomal region of sperm. It is involved in acrosome biogenesis and sperm-egg fusion. The protein contains a signal peptide and a single transmembrane domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EQTN Knockout HEK293 Cell Line | EDJ-KQ11469 | Human | 54586 | Details Get a Quote |
| EQTN Knockout HeLa Cell Line | EDJ-KQ56446 | Human | 54586 | Details Get a Quote |
| EQTN Knockout A-549 Cell Line | EDJ-KQ64940 | Human | 54586 | Details Get a Quote |
| EQTN Knockout HCT 116 Cell Line | EDJ-KQ73382 | Human | 54586 | Details Get a Quote |
