SPATA31G1 Gene - Spermatogenesis Associated 31G1
A testis-enriched gene with potential roles in spermatogenesis and cancer, located on chromosome 9q21.2.
Gene Information Card
| Symbol | SPATA31G1 |
|---|---|
| Full Name | spermatogenesis associated 31G1 |
| Gene Type | protein coding |
| Chromosomal Location | 9q21.2 |
| NCBI Gene ID | 100130894 ncbi.nlm.nih.gov/gene/100130894 |
| Ensembl ID | ENSG00000204178 |
| UniProt ID | A6NHL2 |
| OMIM ID | Not available |
| HGNC ID | 37231 |
| Aliases | C9orf178, FAM75G1 |
Description
SPATA31G1 (spermatogenesis associated 31G1) is a protein-coding gene located on chromosome 9q21.2. It is part of the SPATA31 gene family, which is predominantly expressed in the testis. The gene is thought to play a role in spermatogenesis, though its exact function remains under investigation. Recent studies have also implicated SPATA31G1 in certain cancers, where it may be aberrantly expressed. The protein is predicted to be involved in cellular processes related to reproduction and potentially cell cycle regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Aberrant expression; potential oncogenic role | Limited evidence from cancer genomics databases (e.g., COSMIC) showing somatic mutations and expression changes in some tumors. |
| Male infertility (suspected) | Disruption of spermatogenesis due to altered expression | Inferred from gene name and testis-specific expression; direct clinical evidence is lacking. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available (low expression) | Predominant expression in testis based on RNA-seq data from GTEx and Human Protein Atlas. |
| Other tissues | Not available | Minimal or no expression in other tissues. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testicular cell lines (e.g., NT2/D1) | Not available | Expression may be present in testicular carcinoma cell lines. |
| HeLa (cervical cancer) | Not available | Low or no expression; not a typical cell line for this gene. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | Rare (<0.01%) | Unknown; predicted benign by in silico tools. |
| c.456C>T (p.Ser152Leu) | Missense | Rare (<0.01%) | Unknown; may affect protein stability. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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 (inferred from gene name) | • cellular_component: nucleus (predicted) |
| • molecular_function: protein binding (predicted) |
Pathways
• No specific pathways curated in Reactome or KEGG for SPATA31G1.
Protein Summary
The SPATA31G1 protein is a predicted 1,224-amino acid protein with no characterized domains. It is likely localized to the nucleus and may interact with other proteins involved in spermatogenesis. The protein sequence shows no similarity to known functional domains, suggesting a unique role in reproductive biology. Further studies are needed to elucidate its molecular function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA31G1 Knockout HEK293 Cell Line | EDJ-KQ9415 | Human | 138724 | Details Get a Quote |
| SPATA31G1 Knockout HeLa Cell Line | EDJ-KQ58394 | Human | 138724 | Details Get a Quote |
| SPATA31G1 Knockout A-549 Cell Line | EDJ-KQ66882 | Human | 138724 | Details Get a Quote |
| SPATA31G1 Knockout HCT 116 Cell Line | EDJ-KQ75284 | Human | 138724 | Details Get a Quote |
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