SPATA6: Spermatogenesis Associated 6
A key gene in male fertility and spermatogenesis
Gene Information Card
| Symbol | SPATA6 |
|---|---|
| Full Name | Spermatogenesis Associated 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p33 |
| NCBI Gene ID | 54558 ncbi.nlm.nih.gov/gene/54558 |
| Ensembl ID | ENSG00000117519 |
| UniProt ID | Q9NWH7 |
| OMIM ID | 609957 |
| HGNC ID | 11223 |
| Aliases | NYD-SP12, SPATA6L |
Description
SPATA6 (Spermatogenesis Associated 6) is a protein-coding gene located on chromosome 1p33. It is predominantly expressed in the testis and plays a critical role in spermatogenesis, particularly in sperm flagellum formation and male fertility. The encoded protein localizes to the sperm tail and is essential for proper sperm motility. Mutations in SPATA6 are associated with male infertility due to asthenozoospermia or sperm flagellar defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (asthenozoospermia) | Defects in SPATA6 impair sperm flagellum assembly and motility, leading to reduced sperm progressive motility. | ClinVar; PMID: 28453711 |
| Spermatogenic failure | Loss-of-function variants disrupt spermatogenesis, resulting in oligozoospermia or azoospermia. | OMIM #609957; PMID: 28453711 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Fallopian tube | 1.8 | Low |
| Prostate | 1.2 | Low |
| Ovary | 0.9 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testis (Sertoli cells) | 12.5 | Moderate expression |
| Testis (spermatocytes) | 28.0 | High expression |
| HEK293 | 0.3 | Very low |
| HeLa | 0.1 | Not detected |
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 |
| c.347_348del (p.Gln116Argfs*3) | Frameshift | Rare | Frameshift, loss of function |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Potential loss of function, impaired flagellum assembly |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SPATA6 (nonsense, frameshift, start loss) cause defective sperm flagellum formation and male infertility.
Gain of Function (GOF)
No gain-of-function mutations reported for SPATA6.
Dominant Negative (DN)
No dominant-negative mutations reported for SPATA6.
View complete mutation data：
Gene Ontology (GO)
| • spermatid development (GO:0007286) | • flagellated sperm motility (GO:0030317) |
| • axoneme assembly (GO:0035082) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500931)
• Cilium assembly (Reactome: R-HSA-5620920)
Protein Summary
The SPATA6 protein (UniProt Q9NWH7) is a 548-amino acid protein predominantly expressed in the testis. It localizes to the sperm flagellum and is essential for axoneme assembly and sperm motility. The protein contains coiled-coil domains and is involved in the structural integrity of the sperm tail. Loss of SPATA6 function leads to asthenozoospermia and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA6 Knockout HEK293 Cell Line | EDJ-KQ11465 | Human | 54558 | Details Get a Quote |
| SPATA6L Knockout HEK293 Cell Line | EDJ-KQ15439 | Human | 55064 | Details Get a Quote |
| SPATA6 Knockout A-549 Cell Line | EDJ-KQ39767 | Human | 54558 | Details Get a Quote |
| SPATA6 Knockout HCT 116 Cell Line | EDJ-KQ39768 | Human | 54558 | Details Get a Quote |
| SPATA6L Knockout A-549 Cell Line | EDJ-KQ46220 | Human | 55064 | Details Get a Quote |
| SPATA6L Knockout HeLa Cell Line | EDJ-KQ46221 | Human | 55064 | Details Get a Quote |
| SPATA6 Knockout HeLa Cell Line | EDJ-KQ56439 | Human | 54558 | Details Get a Quote |
| SPATA6L Knockout HCT 116 Cell Line | EDJ-KQ73466 | Human | 55064 | Details Get a Quote |
