SPATA16: Spermatogenesis Associated 16
A key gene in spermatogenesis and male fertility, associated with globozoospermia.
Gene Information Card
| Symbol | SPATA16 |
|---|---|
| Full Name | Spermatogenesis Associated 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.31 |
| NCBI Gene ID | 83893 ncbi.nlm.nih.gov/gene/83893 |
| Ensembl ID | ENSG00000163947 |
| UniProt ID | Q9BQH2 |
| OMIM ID | 609856 |
| HGNC ID | 29938 |
| Aliases | NYD-SP12, SPGF6 |
Description
SPATA16 (Spermatogenesis Associated 16) is a protein-coding gene located on chromosome 3q26.31. It encodes a protein involved in spermatogenesis, specifically in acrosome formation and sperm head development. Mutations in SPATA16 are associated with autosomal recessive globozoospermia (spermatogenic failure 6), a condition characterized by round-headed sperm lacking acrosomes, leading to male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Globozoospermia (Spermatogenic failure 6) | Loss-of-function mutations in SPATA16 disrupt acrosome biogenesis, resulting in round-headed spermatozoa with absent acrosomes. | OMIM #609856; PMID: 17357067 |
| Male infertility | SPATA16 mutations impair spermatogenesis, causing severe teratozoospermia and infertility. | ClinVar; PMID: 17357067 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.2 | Low |
| Prostate | 0.1 | Low |
| Ovary | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa (testicular) | N/A | Expressed in spermatids and sperm |
| HEK293 | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.848G>A (p.Arg283Gln) | Missense | Rare | Loss of function; associated with globozoospermia |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; associated with globozoospermia |
Mutation functional classification
Loss of Function (LOF)
Mutations in SPATA16 lead to loss of protein function, disrupting acrosome formation and causing globozoospermia.
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)
| • spermatogenesis (GO:0007283) | • cytoplasm (GO:0005737) |
| • acrosomal vesicle (GO:0001669) | • sperm chromatin condensation (GO:0035092) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
• Acrosome formation (KEGG: hsa04912)
Protein Summary
The SPATA16 protein is a 599-amino acid polypeptide localized to the acrosomal vesicle and cytoplasm of spermatids. It contains a coiled-coil domain and is essential for acrosome biogenesis and sperm head shaping. Loss of SPATA16 function results in globozoospermia, a severe form of teratozoospermia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA16 Knockout HEK293 Cell Line | EDJ-KQ9926 | Human | 83893 | Details Get a Quote |
| SPATA16 Knockout HeLa Cell Line | EDJ-KQ57500 | Human | 83893 | Details Get a Quote |
| SPATA16 Knockout A-549 Cell Line | EDJ-KQ66003 | Human | 83893 | Details Get a Quote |
| SPATA16 Knockout HCT 116 Cell Line | EDJ-KQ74426 | Human | 83893 | Details Get a Quote |
