SPAG11A
Sperm Associated Antigen 11A
Gene Information Card
| Symbol | SPAG11A |
|---|---|
| Full Name | sperm associated antigen 11A |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 653423 ncbi.nlm.nih.gov/gene/653423 |
| Ensembl ID | ENSG00000182372 |
| UniProt ID | Q6P5R6 |
| OMIM ID | 612831 |
| HGNC ID | 29987 |
| Aliases | HE2, EP2, SPAG11, HE2A, HE2B, HE2C, HE2D, HE2E, HE2F, HE2G, HE2H, HE2I, HE2J, HE2K, HE2L, HE2M, HE2N, HE2O, HE2P, HE2Q, HE2R, HE2S, HE2T, HE2U, HE2V, HE2W, HE2X, HE2Y, HE2Z |
Description
SPAG11A (sperm associated antigen 11A) is a protein-coding gene located on chromosome 8p23.1. It belongs to the beta-defensin family and encodes multiple isoforms through alternative splicing. The gene is predominantly expressed in the epididymis, where its products are involved in sperm maturation, motility, and antimicrobial defense. SPAG11A proteins are secreted into the epididymal lumen and bind to the sperm surface, playing a role in male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Reduced or absent SPAG11A expression may impair sperm maturation and motility | Association studies in infertile men show lower SPAG11A transcript levels in epididymal tissue |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Epididymis | High | Tissue-specific high expression |
| Testis | Low | Low expression |
| Prostate | Low | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Not endogenously expressed |
| HeLa | Not available | Not endogenously expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Potential impact on protein function; clinical significance unknown |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants in SPAG11A may reduce sperm binding and antimicrobial activity, potentially contributing to male infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • defense response to bacterium | • sperm capacitation |
| • sperm-egg fusion | • extracellular region |
| • membrane |
Pathways
• Sperm maturation
• Antimicrobial peptides
Protein Summary
SPAG11A encodes multiple isoforms of beta-defensin-like proteins that are secreted in the epididymis. These proteins bind to the sperm surface, facilitating sperm maturation, motility, and protection against microbial infection. The protein contains a signal peptide and a defensin-like domain with conserved cysteine residues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPAG11A Knockout HEK293 Cell Line | EDJ-KQ15427 | Human | 653423 | Details Get a Quote |
| SPAG11A Knockout HeLa Cell Line | EDJ-KQ60644 | Human | 653423 | Details Get a Quote |
| SPAG11A Knockout A-549 Cell Line | EDJ-KQ69117 | Human | 653423 | Details Get a Quote |
| SPAG11A Knockout HCT 116 Cell Line | EDJ-KQ77469 | Human | 653423 | Details Get a Quote |
