SPATA31D1 Gene - Spermatogenesis Associated 31D1
Comprehensive genomic and functional analysis of SPATA31D1
Gene Information Card
| Symbol | SPATA31D1 |
|---|---|
| Full Name | Spermatogenesis Associated 31D1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q33.2 |
| NCBI Gene ID | 645784 ncbi.nlm.nih.gov/gene/645784 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | A6NKD9 |
| OMIM ID | Not assigned |
| HGNC ID | 37267 |
| Aliases | SPATA31D1, FAM75D1 |
Description
SPATA31D1 (Spermatogenesis Associated 31D1) is a protein-coding gene located on chromosome 9q33.2. It is part of the SPATA31 gene family, which is predominantly expressed in testis and implicated in spermatogenesis. The encoded protein is predicted to be involved in male germ cell development. Limited functional data are available, and no disease associations have been firmly established.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Other tissues | Not detected | Not available |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No cell line data available | Not available | Not available |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations in COSMIC or ClinVar | Not applicable | Not applicable | Not applicable |
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 SPATA31D1 protein (UniProt A6NKD9) is a predicted uncharacterized protein of 1132 amino acids. It contains no well-defined functional domains and its biological role remains largely unknown. Expression data suggest a testis-specific pattern, consistent with a potential role in spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA31D1 Knockout HEK293 Cell Line | EDJ-KQ15449 | Human | 389763 | Details Get a Quote |
| SPATA31D1 Knockout HeLa Cell Line | EDJ-KQ60103 | Human | 389763 | Details Get a Quote |
| SPATA31D1 Knockout A-549 Cell Line | EDJ-KQ68565 | Human | 389763 | Details Get a Quote |
| SPATA31D1 Knockout HCT 116 Cell Line | EDJ-KQ76941 | Human | 389763 | Details Get a Quote |
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