SPATA31A3: Spermatogenesis-Associated Protein 31A3 – Gene Overview and Functional Insights
A comprehensive biomedical reference for SPATA31A3, covering genomic context, expression, disease associations, and protein function.
Gene Information Card
| Symbol | SPATA31A3 |
|---|---|
| Full Name | spermatogenesis associated 31A3 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q31.1 |
| NCBI Gene ID | 642402 ncbi.nlm.nih.gov/gene/642402 |
| Ensembl ID | ENSG00000180353 |
| UniProt ID | Q5VY43 |
| OMIM ID | Not available |
| HGNC ID | 33812 |
| Aliases | FLJ46365, SPATA31A3 |
Description
SPATA31A3 (spermatogenesis associated 31A3) is a protein-coding gene located on chromosome 9q31.1. It is part of the SPATA31 family, which is implicated in spermatogenesis and testicular development. The gene encodes a protein of unknown function, but its expression is predominantly in testis, suggesting a role in male germ cell biology. Limited functional studies exist, and no direct disease associations have been firmly established.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Not established | No curated disease links in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | High expression reported in testis (based on RNA-seq data from GTEx and Human Protein Atlas). |
| Other tissues | Not available | Low or no expression in other tissues. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testicular cell lines (e.g., NT2/D1) | Not available | Expression observed in testicular carcinoma cell lines, but specific nTPM values not curated. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | No variants reported in COSMIC or ClinVar for SPATA31A3. |
Mutation functional classification
Loss of Function (LOF)
No evidence for loss-of-function mutations or phenotypes.
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)
| • No curated GO terms available for SPATA31A3. |
Pathways
• No known pathways associated with SPATA31A3.
Protein Summary
The SPATA31A3 protein is predicted to be a membrane-associated protein with no characterized domains. Its function is largely unknown, but based on gene expression, it may play a role in spermatogenesis. No post-translational modifications or protein interactions have been experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA31A3 Knockout HEK293 Cell Line | EDJ-KQ14683 | Human | 727830 | Details Get a Quote |
| SPATA31A3 Knockout HeLa Cell Line | EDJ-KQ60678 | Human | 727830 | Details Get a Quote |
| SPATA31A3 Knockout A-549 Cell Line | EDJ-KQ69153 | Human | 727830 | Details Get a Quote |
| SPATA31A3 Knockout HCT 116 Cell Line | EDJ-KQ77504 | Human | 727830 | Details Get a Quote |
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