SPACA5B: Sperm Acrosome Associated 5B Gene
A testis-specific gene encoding a putative acrosomal protein, implicated in male fertility and sperm function.
Gene Information Card
| Symbol | SPACA5B |
|---|---|
| Full Name | sperm acrosome associated 5B |
| Gene Type | protein coding |
| Chromosomal Location | Xp22.31 |
| NCBI Gene ID | 440043 ncbi.nlm.nih.gov/gene/440043 |
| Ensembl ID | ENSG00000185973 |
| UniProt ID | A6NMY6 |
| OMIM ID | 300792 |
| HGNC ID | 33743 |
| Aliases | SPACA5, SPACA5L, CT42 |
Description
SPACA5B (sperm acrosome associated 5B) is a protein-coding gene located on the X chromosome (Xp22.31). It is part of the SPACA5 family, which encodes proteins associated with the sperm acrosome, a specialized organelle essential for fertilization. SPACA5B is predominantly expressed in the testis, specifically in spermatids, and is thought to play a role in acrosome biogenesis and sperm-egg interaction. The gene is also known as CT42 (cancer/testis antigen 42), suggesting potential expression in certain tumors. Mutations or altered expression may contribute to male infertility, although detailed clinical associations are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Potential disruption of acrosome function due to altered SPACA5B expression or mutations; however, direct pathogenic variants are not yet well characterized. | Limited evidence; expression studies suggest a role in spermatogenesis, but no definitive disease-causing mutations have been reported in ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available (nTPM data not provided in curated sources) | High expression in testis, particularly in spermatids, based on RNA-seq and immunohistochemistry data from Human Protein Atlas (not directly cited but consistent with UniProt and NCBI). |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testicular germ cell lines (e.g., NT2/D1) | Not available | Expression may be present in germ cell tumor lines; however, specific nTPM values are not provided in the curated sources. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No common variants reported | Not applicable | Not applicable | No pathogenic or common variants have been curated in ClinVar or COSMIC for SPACA5B. |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in SPACA5B have been reported in curated databases.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • acrosome assembly | • sperm-egg recognition |
| • binding | • extracellular region |
Pathways
• Spermatogenesis
• Fertilization
Protein Summary
The SPACA5B protein is a putative acrosomal protein with a signal peptide and a domain of unknown function (DUF2969). It is localized to the acrosome of spermatozoa and may be involved in acrosome reaction and sperm-zona pellucida binding. The protein is predicted to be secreted or membrane-associated. Its exact molecular function remains to be fully characterized, but it is likely important for male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPACA5B Knockout HEK293 Cell Line | EDJ-KQ15422 | Human | 729201 | Details Get a Quote |
| SPACA5B Knockout HeLa Cell Line | EDJ-KQ60733 | Human | 729201 | Details Get a Quote |
| SPACA5B Knockout A-549 Cell Line | EDJ-KQ69203 | Human | 729201 | Details Get a Quote |
| SPACA5B Knockout HCT 116 Cell Line | EDJ-KQ77560 | Human | 729201 | Details Get a Quote |
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