SPATA2L
Spermatogenesis Associated 2 Like
Gene Information Card
| Symbol | SPATA2L |
|---|---|
| Full Name | Spermatogenesis Associated 2 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 124044 ncbi.nlm.nih.gov/gene/124044 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9H0I9 |
| OMIM ID | 617731 |
| HGNC ID | 28470 |
| Aliases | SPATA2L, C16orf55, FLJ22662 |
Description
SPATA2L (Spermatogenesis Associated 2 Like) is a protein-coding gene located on chromosome 16q22.1. It encodes a protein of unknown function, but it is predicted to be involved in spermatogenesis based on sequence similarity to SPATA2. Expression data suggest broad tissue distribution with highest levels in testis. Limited disease associations have been reported.
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 | 15.2 | Medium |
| Brain | 4.8 | Low |
| Lung | 3.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.0 | Moderate expression |
| HeLa | 3.2 | Low expression |
| K562 | 2.1 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data:
Protein Summary
The SPATA2L protein (UniProt Q9H0I9) is 487 amino acids long with a predicted molecular weight of 54 kDa. It contains a SPATA2 domain of unknown function. No enzymatic activity or protein interactions have been experimentally validated. The protein is predicted to be cytoplasmic.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA2L Knockout HEK293 Cell Line | EDJ-KQ8429 | Human | 124044 | Details Get a Quote |
| SPATA2L Knockout A-549 Cell Line | EDJ-KQ34533 | Human | 124044 | Details Get a Quote |
| SPATA2L Knockout HCT 116 Cell Line | EDJ-KQ34534 | Human | 124044 | Details Get a Quote |
| SPATA2L Knockout HeLa Cell Line | EDJ-KQ34535 | Human | 124044 | Details Get a Quote |