SPATA31A5 Gene - Spermatogenesis Associated 31A5
A testis-enriched gene with potential roles in spermatogenesis and cancer
Gene Information Card
| Symbol | SPATA31A5 |
|---|---|
| Full Name | spermatogenesis associated 31A5 |
| Gene Type | protein coding |
| Chromosomal Location | 9q31.1 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | A6NKF1 |
| OMIM ID | Not available |
| HGNC ID | 37212 |
| Aliases | SPATA31A5, FAM75A5, CTG4 |
Description
SPATA31A5 is a protein-coding gene located on chromosome 9q31.1. It is part of the SPATA31 family, which is predominantly expressed in the testis and is thought to play a role in spermatogenesis. The gene has also been implicated in certain cancers, though its exact function remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression; potential oncogenic role | COSMIC lists somatic mutations in multiple cancer types |
| Male infertility (suspected) | Disrupted spermatogenesis due to altered expression | Expression enriched in testis; functional studies limited |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | High (nTPM ~50) | High expression |
| Fallopian tube | Low (nTPM ~5) | Low expression |
| Other tissues | Very low or not detected | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Low | Low expression |
| A549 | Low | Low expression |
| MCF7 | Low | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Missense | Various | Rare | Unknown; potential impact on protein function |
| Frameshift | Various | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations may lead to loss of function, potentially affecting spermatogenesis.
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)
| • biological_process: spermatogenesis | • cellular_component: nucleus |
| • molecular_function: protein binding |
Pathways
• Spermatogenesis (inferred from expression and family members)
Protein Summary
The SPATA31A5 protein is predicted to be a nuclear protein with a role in spermatogenesis. It contains a conserved domain of unknown function (DUF4600) and is primarily expressed in the testis. Its exact molecular function is not yet characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA31A5 Knockout HEK293 Cell Line | EDJ-KQ15445 | Human | 727905 | Details Get a Quote |
| SPATA31A5 Knockout HeLa Cell Line | EDJ-KQ60683 | Human | 727905 | Details Get a Quote |
| SPATA31A5 Knockout A-549 Cell Line | EDJ-KQ69157 | Human | 727905 | Details Get a Quote |
| SPATA31A5 Knockout HCT 116 Cell Line | EDJ-KQ77509 | Human | 727905 | Details Get a Quote |
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