SPATA31D4 Gene - Spermatogenesis Associated 31D4
A testis-expressed gene with potential roles in spermatogenesis and cancer
Gene Information Card
| Symbol | SPATA31D4 |
|---|---|
| Full Name | spermatogenesis associated 31D4 |
| Gene Type | protein coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 340602 ncbi.nlm.nih.gov/gene/340602 |
| Ensembl ID | ENSG00000180596 |
| UniProt ID | A6NKF1 |
| OMIM ID | Not available |
| HGNC ID | 37208 |
| Aliases | FLJ40298, C9orf173 |
Description
SPATA31D4 is a protein-coding gene located on chromosome 9q34.13. 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 exact function is not fully characterized, but it is thought to play a role in male germ cell development. Recent studies have also identified SPATA31D4 as a potential biomarker in certain cancers, such as hepatocellular carcinoma, where its expression may be altered.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered expression; potential oncogenic role | Expression analysis in tumor samples (PMID: 31589751) |
| Male infertility | Potential involvement in spermatogenesis | Inferred from gene family function; not directly validated |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | High expression (RNA-seq data from GTEx) |
| Other tissues | Not available | Low or no expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | Low expression |
| K562 | Not available | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Not available | Not available | Not available | Not available |
Mutation functional classification
Loss of Function (LOF)
No specific data available.
Gain of Function (GOF)
No specific data available.
Dominant Negative (DN)
No specific data available.
View complete mutation data：
Gene Ontology (GO)
| • Not available |
Pathways
• Not available
Protein Summary
The SPATA31D4 protein is predicted to be a membrane-associated protein, but its exact structure and function are not well characterized. It is primarily expressed in the testis, suggesting a role in spermatogenesis. In cancer, altered expression has been observed, but the molecular mechanisms remain unclear.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA31D4 Knockout HEK293 Cell Line | EDJ-KQ15451 | Human | 389761 | Details Get a Quote |
| SPATA31D4 Knockout HeLa Cell Line | EDJ-KQ60101 | Human | 389761 | Details Get a Quote |
| SPATA31D4 Knockout A-549 Cell Line | EDJ-KQ68563 | Human | 389761 | Details Get a Quote |
| SPATA31D4 Knockout HCT 116 Cell Line | EDJ-KQ76939 | Human | 389761 | Details Get a Quote |
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