SPATA22: Spermatogenesis Associated 22
A key meiotic factor essential for homologous recombination and fertility
Gene Information Card
| Symbol | SPATA22 |
|---|---|
| Full Name | Spermatogenesis Associated 22 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 84690 ncbi.nlm.nih.gov/gene/84690 |
| Ensembl ID | ENSG00000108561 |
| UniProt ID | Q8N9N2 |
| OMIM ID | 617711 |
| HGNC ID | 28738 |
| Aliases | NYD-SP28, SPGF6 |
Description
SPATA22 (Spermatogenesis Associated 22) is a protein-coding gene that plays a critical role in meiotic homologous recombination and DNA double-strand break repair during spermatogenesis. The encoded protein localizes to meiotic chromosomes and interacts with the MEIOB protein to form a complex essential for crossover formation and fertility. Loss-of-function mutations in SPATA22 cause non-obstructive azoospermia and male infertility in humans.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-obstructive azoospermia (NOA) | Loss-of-function mutations in SPATA22 disrupt meiotic homologous recombination, leading to spermatogenic arrest and absence of sperm in semen. | ClinVar, OMIM |
| Spermatogenic failure 6 (SPGF6) | Biallelic mutations in SPATA22 cause meiotic arrest at the zygotene/pachytene stage, preventing sperm maturation. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.6 | Low |
| Ovary | 0.5 | Low |
| Other tissues | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 0.2 | Low expression |
| Testicular germ cell tumor (NTERA-2) | 0.1 | Very low |
| HEK 293 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/start loss | Rare | Loss of protein expression; associated with NOA |
| c.226C>T (p.Arg76*) | Nonsense | Rare | Premature truncation; loss of function |
| c.632G>A (p.Arg211Gln) | Missense | Rare | Impaired interaction with MEIOB; meiotic arrest |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift, start loss) cause meiotic arrest and azoospermia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • reciprocal meiotic recombination (GO:0007131) | • double-strand break repair (GO:0006302) |
| • condensed nuclear chromosome (GO:0000794) | • nucleus (GO:0005634) |
| • spermatogenesis (GO:0007283) | • replication fork protection (GO:0048478) |
Pathways
• Meiotic recombination (Reactome: R-HSA-912446)
• Homologous recombination (KEGG: hsa03440)
Protein Summary
SPATA22 is a 305-amino acid nuclear protein predominantly expressed in testis. It forms a heterodimer with MEIOB, which binds single-stranded DNA and is required for meiotic double-strand break repair and crossover formation. The protein localizes to meiotic chromosomes during prophase I and is essential for fertility. Structural analysis reveals an OB-fold domain involved in DNA binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA22 Knockout HEK293 Cell Line | EDJ-KQ10166 | Human | 84690 | Details Get a Quote |
| SPATA22 Knockout HeLa Cell Line | EDJ-KQ57647 | Human | 84690 | Details Get a Quote |
| SPATA22 Knockout A-549 Cell Line | EDJ-KQ66145 | Human | 84690 | Details Get a Quote |
| SPATA22 Knockout HCT 116 Cell Line | EDJ-KQ74572 | Human | 84690 | Details Get a Quote |
