SPATA17
Spermatogenesis Associated 17
Gene Information Card
| Symbol | SPATA17 |
|---|---|
| Full Name | Spermatogenesis Associated 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 100169917 ncbi.nlm.nih.gov/gene/100169917 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | Q5T8P6 |
| OMIM ID | 615529 |
| HGNC ID | 33720 |
| Aliases | FLJ32743, MGC16384 |
Description
SPATA17 (Spermatogenesis Associated 17) is a protein-coding gene involved in spermatogenesis. It is predominantly expressed in testis and plays a role in male germ cell development. The gene encodes a protein of unknown function but is associated with male infertility when mutated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Loss of SPATA17 function disrupts spermatogenesis, leading to impaired sperm production | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 0.6 | Not detected |
| Prostate | 0.3 | Not detected |
| Ovary | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sertoli cells (primary) | 0.1 | Low expression |
| Leydig cells (primary) | 0.1 | Low expression |
| Seminoma cell line (TCam-2) | 0.0 | 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 | Likely loss of function |
| c.100C>T (p.Arg34*) | Nonsense | Rare | Truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations in SPATA17 are associated with impaired spermatogenesis and 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)
| • spermatogenesis (GO:0007283) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
Protein Summary
The SPATA17 protein is 345 amino acids long and contains a conserved domain of unknown function (DUF). It is localized to the nucleus and cytoplasm of testicular germ cells. Its precise molecular function remains unclear, but it is essential for normal spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA17 Knockout HEK293 Cell Line | EDJ-KQ9150 | Human | 128153 | Details Get a Quote |
| SPATA17 Knockout A-549 Cell Line | EDJ-KQ35693 | Human | 128153 | Details Get a Quote |
| SPATA17 Knockout HCT 116 Cell Line | EDJ-KQ35694 | Human | 128153 | Details Get a Quote |
| SPATA17 Knockout HeLa Cell Line | EDJ-KQ58224 | Human | 128153 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
