SPAG11B
Sperm Associated Antigen 11B
Gene Information Card
| Symbol | SPAG11B |
|---|---|
| Full Name | sperm associated antigen 11B |
| Gene Type | protein coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 10407 ncbi.nlm.nih.gov/gene/10407 |
| Ensembl ID | ENSG00000164741 |
| UniProt ID | O75312 |
| OMIM ID | 605173 |
| HGNC ID | 11223 |
| Aliases | HE2, EP2, HE2B, SPAG11, SPAG11A |
Description
SPAG11B (sperm associated antigen 11B) is a protein-coding gene located on chromosome 8p23.1. It encodes a member of the beta-defensin family of antimicrobial peptides, predominantly expressed in the male reproductive tract, particularly in the epididymis and testis. The protein is involved in sperm maturation, motility, and antimicrobial defense in the male reproductive system. Alternative splicing generates multiple isoforms with distinct functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Reduced SPAG11B expression may impair sperm maturation and motility | PMID: 12055263 |
| Epididymitis | Altered antimicrobial peptide levels may contribute to infection susceptibility | PMID: 15155807 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Epididymis | 25.3 | High |
| Prostate | 3.2 | Low |
| Kidney | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.5 | Low expression |
| HEK 293 | 1.2 | Low expression |
| NT2/D1 | 8.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | Unknown functional effect |
| c.124C>T | synonymous | 0.03% | No known effect |
Mutation functional classification
Loss of Function (LOF)
Not reported in ClinVar or COSMIC
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • defense response to bacterium | • sperm capacitation |
| • sperm motility | • extracellular region |
| • membrane |
Pathways
• Antimicrobial peptides
• Spermatogenesis
Protein Summary
The SPAG11B protein is a beta-defensin-like antimicrobial peptide expressed in the male reproductive tract. It is secreted into the epididymal lumen, where it binds to spermatozoa and contributes to sperm maturation, motility, and protection against microbial infection. The protein contains a conserved beta-defensin domain and undergoes proteolytic processing to generate active peptides.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPAG11B Knockout HEK293 Cell Line | EDJ-KQ50965 | Human | 10407 | Details Get a Quote |
| SPAG11B Knockout HeLa Cell Line | EDJ-KQ55402 | Human | 10407 | Details Get a Quote |
| SPAG11B Knockout A-549 Cell Line | EDJ-KQ63881 | Human | 10407 | Details Get a Quote |
| SPAG11B Knockout HCT 116 Cell Line | EDJ-KQ72339 | Human | 10407 | Details Get a Quote |
