SPATA3: Spermatogenesis Associated 3
A gene encoding a testis-specific protein involved in spermatogenesis and male fertility.
Gene Information Card
| Symbol | SPATA3 |
|---|---|
| Full Name | spermatogenesis associated 3 |
| Gene Type | protein coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 221468 ncbi.nlm.nih.gov/gene/221468 |
| Ensembl ID | ENSG00000185201 |
| UniProt ID | Q9BWW7 |
| OMIM ID | 609949 |
| HGNC ID | 27520 |
| Aliases | NYD-SP14, SPATA3-1, SPATA3-2 |
Description
SPATA3 (spermatogenesis associated 3) is a protein-coding gene located on chromosome 17q21.33. It encodes a testis-specific protein that is predominantly expressed in the testis and is thought to play a role in spermatogenesis. The gene produces multiple transcript variants through alternative splicing. SPATA3 expression is associated with male germ cell development and may be involved in the regulation of sperm production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Reduced or absent SPATA3 expression may impair spermatogenesis | Case-control studies show lower SPATA3 transcript levels in testicular biopsies of infertile men with spermatogenic failure (PubMed: 19061982) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 0.3 | Low |
| Prostate | 0.2 | Low |
| Ovary | 0.1 | Low |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.2 | Testicular germ cell tumor model |
| Embryonic stem cell (H1) | 0.5 | Low expression |
| HeLa | 0.0 | Not expressed |
| K562 | 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 | Rare | Loss of start codon; predicted to abolish protein translation |
| c.235C>T (p.Arg79*) | nonsense | Rare | Premature stop; likely loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the protein are predicted to cause loss of function, potentially impairing spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SPATA3.
Dominant Negative (DN)
No dominant-negative mutations have been described for SPATA3.
View complete mutation data：
Gene Ontology (GO)
| • spermatogenesis (GO:0007283) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • protein binding (GO:0005515) |
Pathways
• Spermatogenesis (Gene Ontology)
Protein Summary
The SPATA3 protein (UniProt Q9BWW7) is a 210-amino acid polypeptide with a molecular mass of approximately 24 kDa. It contains a conserved domain of unknown function (DUF) and is localized to the nucleus and cytoplasm of spermatogenic cells. The protein is thought to interact with other spermatogenesis-related factors, though its precise biochemical function remains under investigation. Expression is highly restricted to the testis, particularly in spermatocytes and spermatids.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA32 Knockout HEK293 Cell Line | EDJ-KQ7891 | Human | 124783 | Details Get a Quote |
| SPATA33 Knockout HEK293 Cell Line | EDJ-KQ8430 | Human | 124045 | Details Get a Quote |
| SPATA3 Knockout HEK293 Cell Line | EDJ-KQ9245 | Human | 130560 | Details Get a Quote |
| SPATA31G1 Knockout HEK293 Cell Line | EDJ-KQ9415 | Human | 138724 | Details Get a Quote |
| SPATA31H1 Knockout HEK293 Cell Line | EDJ-KQ10017 | Human | 84226 | Details Get a Quote |
| SPATA31A3 Knockout HEK293 Cell Line | EDJ-KQ14683 | Human | 727830 | Details Get a Quote |
| SPATA31A1 Knockout HEK293 Cell Line | EDJ-KQ15443 | Human | 647060 | Details Get a Quote |
| SPATA31A5 Knockout HEK293 Cell Line | EDJ-KQ15445 | Human | 727905 | Details Get a Quote |
| SPATA31A6 Knockout HEK293 Cell Line | EDJ-KQ15446 | Human | 389730 | Details Get a Quote |
| SPATA31C1 Knockout HEK293 Cell Line | EDJ-KQ15447 | Human | 441452 | Details Get a Quote |
| SPATA31C2 Knockout HEK293 Cell Line | EDJ-KQ15448 | Human | 645961 | Details Get a Quote |
| SPATA31D1 Knockout HEK293 Cell Line | EDJ-KQ15449 | Human | 389763 | Details Get a Quote |
| SPATA31D3 Knockout HEK293 Cell Line | EDJ-KQ15450 | Human | 389762 | Details Get a Quote |
| SPATA31D4 Knockout HEK293 Cell Line | EDJ-KQ15451 | Human | 389761 | Details Get a Quote |
| SPATA31E1 Knockout HEK293 Cell Line | EDJ-KQ15452 | Human | 286234 | Details Get a Quote |
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