SPATA21: Spermatogenesis Associated 21
A testis-enriched gene with potential roles in male fertility and spermatogenesis
Gene Information Card
| Symbol | SPATA21 |
|---|---|
| Full Name | Spermatogenesis Associated 21 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 100506142 ncbi.nlm.nih.gov/gene/100506142 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | A6NKD2 |
| OMIM ID | 618838 |
| HGNC ID | 37268 |
| Aliases | C1orf178, FLJ45803 |
Description
SPATA21 (Spermatogenesis Associated 21) is a protein-coding gene located on chromosome 1p36.13. It is predominantly expressed in the testis and is thought to play a role in spermatogenesis. The gene encodes a protein of unknown function, but its testis-enriched expression pattern suggests involvement in male germ cell development and fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Potential loss of SPATA21 expression may disrupt spermatogenesis | Limited; based on expression studies and case reports in ClinVar |
| Spermatogenic failure | Undetermined; gene expression correlates with spermatogenic stages | Inferred from testis expression data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 0.8 | Not detected |
| Prostate | 0.6 | Not detected |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 8.2 | Testis-derived; moderate expression |
| Embryonic stem cells (H1) | 0.3 | Low/not detected |
| HEK 293 | 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 | Potential loss of start codon; predicted loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% in gnomAD | Unknown significance; not reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • spermatogenesis (GO:0007283) | • male gamete generation (GO:0048232) |
| • cytoplasm (GO:0005737) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
Protein Summary
The SPATA21 protein (UniProt A6NKD2) is 210 amino acids long with no characterized domains. It is predicted to be cytoplasmic and is highly expressed in testis. Its exact molecular function remains unknown, but it is likely involved in spermatogenesis based on expression and gene ontology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA21 Knockout HEK293 Cell Line | EDJ-KQ15442 | Human | 374955 | Details Get a Quote |
| SPATA21 Knockout HeLa Cell Line | EDJ-KQ59911 | Human | 374955 | Details Get a Quote |
| SPATA21 Knockout A-549 Cell Line | EDJ-KQ68373 | Human | 374955 | Details Get a Quote |
| SPATA21 Knockout HCT 116 Cell Line | EDJ-KQ76751 | Human | 374955 | Details Get a Quote |
