SPATA20: Spermatogenesis Associated 20
A gene encoding a thioredoxin domain-containing protein involved in spermatogenesis and redox regulation.
Gene Information Card
| Symbol | SPATA20 |
|---|---|
| Full Name | Spermatogenesis Associated 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 64847 ncbi.nlm.nih.gov/gene/64847 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q9HBY8 |
| OMIM ID | 615559 |
| HGNC ID | 28737 |
| Aliases | FLJ21908, NYD-SP28, SPATA20L |
Description
SPATA20 (Spermatogenesis Associated 20) is a protein-coding gene located on chromosome 17q21.33. The encoded protein contains a thioredoxin domain and is predominantly expressed in the testis, where it plays a role in spermatogenesis. It may function in redox regulation and is implicated in male infertility. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered SPATA20 expression may disrupt spermatogenesis | Association studies; reduced expression in infertile men |
| Non-obstructive azoospermia | Loss of SPATA20 function impairs sperm production | Case-control studies; gene expression analysis |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 3.2 | Low |
| Prostate | 2.1 | Low |
| Ovary | 1.8 | Low |
| Kidney | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NT2/D1 (embryonal carcinoma) | 15.3 | Testis-derived cell line |
| HeLa | 0.5 | Cervical cancer cell line |
| HepG2 | 0.3 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional impact |
| c.1022G>A (p.Arg341Gln) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • protein disulfide oxidoreductase activity (GO:0015035) |
| • glucose homeostasis (GO:0042593) | • spermatogenesis (GO:0007283) |
Pathways
• Thioredoxin pathway
• Oxidative stress response
Protein Summary
The SPATA20 protein (UniProt Q9HBY8) is 541 amino acids long and contains a thioredoxin domain. It is localized in the cytoplasm and may function as a disulfide oxidoreductase, protecting cells from oxidative stress. In the testis, it is essential for proper sperm development. The protein interacts with other spermatogenesis-related factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA20 Knockout HEK293 Cell Line | EDJ-KQ15441 | Human | 64847 | Details Get a Quote |
| SPATA20 Knockout A-549 Cell Line | EDJ-KQ46226 | Human | 64847 | Details Get a Quote |
| SPATA20 Knockout HCT 116 Cell Line | EDJ-KQ46227 | Human | 64847 | Details Get a Quote |
| SPATA20 Knockout HeLa Cell Line | EDJ-KQ46228 | Human | 64847 | Details Get a Quote |
