SPAG16: Sperm Associated Antigen 16
A gene encoding a core component of the flagellar axoneme, essential for sperm motility and ciliary function.
Gene Information Card
| Symbol | SPAG16 |
|---|---|
| Full Name | sperm associated antigen 16 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.2 |
| NCBI Gene ID | 79582 ncbi.nlm.nih.gov/gene/79582 |
| Ensembl ID | ENSG00000144451 |
| UniProt ID | Q8N0X2 |
| OMIM ID | 612173 |
| HGNC ID | 29998 |
| Aliases | PF20, WDR29, MGC138207 |
Description
SPAG16 (sperm associated antigen 16) encodes a protein that is a core component of the flagellar axoneme, specifically the central pair apparatus. It is essential for sperm motility and ciliary function. Mutations in this gene are associated with primary ciliary dyskinesia (PCD) and male infertility due to impaired flagellar movement.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia | Loss-of-function mutations in SPAG16 disrupt the central pair apparatus of cilia, impairing mucociliary clearance and causing respiratory symptoms. | ClinVar, OMIM |
| Male Infertility (Asthenozoospermia) | Defects in SPAG16 lead to abnormal sperm flagellar structure and motility, resulting in reduced or absent forward progression. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Trachea | 8.1 | Low |
| Lung | 5.4 | Low |
| Fallopian Tube | 4.2 | Low |
| Brain (Cerebellum) | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression in flagellum |
| hTERT-RPE1 | 0.8 | Low (ciliated epithelial cell line) |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Loss of function; truncates protein, associated with PCD |
| c.287G>A (p.Arg96Gln) | Missense | Rare | Likely damaging; disrupts WD40 domain |
| c.445_446del (p.Leu149Valfs*2) | Frameshift | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg34*, p.Leu149Valfs*2) cause loss of SPAG16 function, leading to defective axonemal structure and ciliary immotility.
Gain of Function (GOF)
No gain-of-function mutations reported for SPAG16.
Dominant Negative (DN)
No dominant-negative mutations reported for SPAG16.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton (GO:0005856) | • cilium (GO:0005929) |
| • axoneme (GO:0035082) | • motor activity (GO:0003774) |
| • spermatid development (GO:0007286) | • epithelial cilium movement (GO:0003351) |
Pathways
• Cilium Assembly (Reactome: R-HSA-5617833)
• Flagellated Sperm Motility (KEGG: hsa04912)
Protein Summary
SPAG16 encodes a 70 kDa protein containing WD40 repeats, localized to the central pair of the flagellar axoneme. It is highly expressed in testis and ciliated tissues. The protein interacts with other axonemal components to regulate microtubule sliding and flagellar beating. Loss of SPAG16 disrupts ciliary and flagellar motility, leading to primary ciliary dyskinesia and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPAG16 Knockout HEK293 Cell Line | EDJ-KQ15428 | Human | 79582 | Details Get a Quote |
| SPAG16 Knockout A-549 Cell Line | EDJ-KQ46213 | Human | 79582 | Details Get a Quote |
| SPAG16 Knockout HeLa Cell Line | EDJ-KQ47107 | Human | 79582 | Details Get a Quote |
| SPAG16 Knockout HCT 116 Cell Line | EDJ-KQ74117 | Human | 79582 | Details Get a Quote |
