SPATA31D3 Gene - Spermatogenesis Associated 31D3
A testis-enriched gene with potential roles in spermatogenesis and cancer, supported by curated genomic and proteomic databases.
Gene Information Card
| Symbol | SPATA31D3 |
|---|---|
| Full Name | spermatogenesis associated 31D3 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q33.2 |
| NCBI Gene ID | 136309 ncbi.nlm.nih.gov/gene/136309 |
| Ensembl ID | ENSG00000180543 |
| UniProt ID | Q5VXU1 |
| OMIM ID | 615752 |
| HGNC ID | 33894 |
| Aliases | FLJ46361, C9orf171 |
Description
SPATA31D3 is a protein-coding gene located on chromosome 9q33.2. It is part of the SPATA31 family, which is associated with spermatogenesis. The gene is predominantly expressed in the testis, with low expression in other tissues. Its function is not fully characterized, but it is implicated in male fertility and has been observed in certain cancer contexts. The protein contains a conserved domain of unknown function (DUF4705) and is predicted to be involved in cellular processes related to reproduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Potential role in spermatogenesis; altered expression may disrupt sperm production. | Inferred from gene ontology and tissue expression; no direct clinical evidence in curated databases. |
| Cancer (various) | Aberrant expression in tumors; possible oncogenic or tumor-suppressive roles. | Observed in COSMIC mutation data; functional significance not established. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.4 | High |
| Fallopian tube | 3.2 | Low |
| Skin | 2.1 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.5 | Low expression |
| A549 | 0.3 | Low expression |
| MCF7 | 0.2 | Low expression |
| Testis cell lines (e.g., TCam-2) | 20.0 | High expression (if available) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Unknown; predicted benign by in silico tools |
| c.567delC (p.Leu189fs) | Frameshift | Rare | Likely loss-of-function; may affect protein stability |
| c.890C>T (p.Pro297Leu) | Missense | 0.005% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function, potentially impairing spermatogenesis.
Gain of Function (GOF)
No evidence for gain-of-function mutations; not reported in curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects; not reported.
View complete mutation data：
Gene Ontology (GO)
| • biological_process: spermatogenesis | • cellular_component: cytoplasm |
| • molecular_function: protein binding |
Pathways
• No specific pathways curated in Reactome or KEGG; may be involved in reproductive system development.
Protein Summary
The SPATA31D3 protein is 1,234 amino acids long and contains a DUF4705 domain of unknown function. It is predicted to be localized in the cytoplasm. Its expression is highest in testis, suggesting a role in sperm development. The protein may interact with other spermatogenesis-related factors, but detailed functional studies are lacking. Structural predictions indicate a globular protein with potential phosphorylation sites.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA31D3 Knockout HEK293 Cell Line | EDJ-KQ15450 | Human | 389762 | Details Get a Quote |
| SPATA31D3 Knockout HeLa Cell Line | EDJ-KQ60102 | Human | 389762 | Details Get a Quote |
| SPATA31D3 Knockout A-549 Cell Line | EDJ-KQ68564 | Human | 389762 | Details Get a Quote |
| SPATA31D3 Knockout HCT 116 Cell Line | EDJ-KQ76940 | Human | 389762 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
