SPATA31C2: Spermatogenesis Associated 31 Family Member C2
A testis-specific gene of unknown function, member of the SPATA31 gene family.
Gene Information Card
| Symbol | SPATA31C2 |
|---|---|
| Full Name | Spermatogenesis Associated 31 Family Member C2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q31.3 |
| NCBI Gene ID | 653319 ncbi.nlm.nih.gov/gene/653319 |
| Ensembl ID | ENSG00000197980 |
| UniProt ID | A6NKD9 |
| OMIM ID | - |
| HGNC ID | 37213 |
| Aliases | SPATA31-2, SPATA31C, C9orf118 |
Description
SPATA31C2 is a protein-coding gene belonging to the SPATA31 family, which is primarily expressed in the testis. The exact biological function of SPATA31C2 remains largely uncharacterized, but it is thought to be involved in spermatogenesis based on its expression pattern and family membership. No disease associations have been firmly established.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| - | - | No curated disease associations in OMIM, ClinVar, or COSMIC. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | - | High (testis-specific) |
| Other tissues | - | Not detected or very low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| - | - | No cell line expression data available in public databases. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| - | - | - | No curated mutations in ClinVar or COSMIC. |
Mutation functional classification
Loss of Function (LOF)
No data available.
Gain of Function (GOF)
No data available.
Dominant Negative (DN)
No data available.
View complete mutation data：
Protein Summary
The SPATA31C2 protein (UniProt A6NKD9) is predicted to be a membrane-associated protein of unknown function. It is encoded by a single exon and is highly conserved among primates. No structural or functional domains have been experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA31C2 Knockout HEK293 Cell Line | EDJ-KQ15448 | Human | 645961 | Details Get a Quote |
| SPATA31C2 Knockout HeLa Cell Line | EDJ-KQ47131 | Human | 645961 | Details Get a Quote |
| SPATA31C2 Knockout A-549 Cell Line | EDJ-KQ46232 | Human | 645961 | Details Get a Quote |
| SPATA31C2 Knockout HCT 116 Cell Line | EDJ-KQ46233 | Human | 645961 | Details Get a Quote |
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