SPATA6L
Spermatogenesis Associated 6 Like
Gene Information Card
| Symbol | SPATA6L |
|---|---|
| Full Name | Spermatogenesis Associated 6 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 9q33.3 |
| NCBI Gene ID | 124044 ncbi.nlm.nih.gov/gene/124044 |
| Ensembl ID | ENSG00000165055 |
| UniProt ID | Q6ZUT6 |
| OMIM ID | 618829 |
| HGNC ID | 28773 |
| Aliases | FLJ35725, MGC131891 |
Description
SPATA6L (Spermatogenesis Associated 6 Like) is a protein-coding gene located on chromosome 9q33.3. It is predicted to be involved in spermatogenesis, though its precise biological function remains under investigation. Expression data indicate enrichment in testis and other tissues. The gene encodes a protein of unknown function, but sequence similarity suggests a role in male germ cell development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 6.2 | Low |
| Prostate | 4.8 | Low |
| Thyroid | 3.1 | Low |
| Adipose tissue | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.8 | Low expression |
| HeLa | 0.5 | Low expression |
| K562 | 0.3 | Not detected |
| HepG2 | 0.4 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Protein Summary
The SPATA6L protein (UniProt Q6ZUT6) is 543 amino acids long. Its function is not well characterized, but it is predicted to be involved in spermatogenesis based on sequence similarity to SPATA6. No structural domains have been definitively assigned.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA6L Knockout HEK293 Cell Line | EDJ-KQ15439 | Human | 55064 | Details Get a Quote |
| SPATA6L Knockout A-549 Cell Line | EDJ-KQ46220 | Human | 55064 | Details Get a Quote |
| SPATA6L Knockout HeLa Cell Line | EDJ-KQ46221 | Human | 55064 | Details Get a Quote |
| SPATA6L Knockout HCT 116 Cell Line | EDJ-KQ73466 | Human | 55064 | Details Get a Quote |
