ATXN7L2 Gene - Ataxin 7 Like 2
Comprehensive genomic and functional annotation of ATXN7L2
Gene Information Card
| Symbol | ATXN7L2 |
|---|---|
| Full Name | Ataxin 7 Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 222255 ncbi.nlm.nih.gov/gene/222255 |
| Ensembl ID | ENSG00000163026 |
| UniProt ID | Q5T6C9 |
| OMIM ID | 614779 |
| HGNC ID | 28349 |
| Aliases | FLJ32670, MGC34648 |
Description
ATXN7L2 (Ataxin 7 Like 2) is a protein-coding gene located on chromosome 2q33.1. It encodes a protein that shares similarity with ataxin 7, a component of the SAGA (Spt-Ada-Gcn5-acetyltransferase) transcriptional coactivator complex. The exact function of ATXN7L2 is not fully characterized, but it is predicted to be involved in chromatin remodeling and transcriptional regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Moderate expression |
| K562 | 7.5 | Low expression |
| HepG2 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
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 ATXN7L2 protein (UniProt Q5T6C9) is a 742-amino acid polypeptide with a molecular mass of approximately 83 kDa. It contains a SCA7 domain characteristic of ataxin 7 family members. The protein is predicted to localize to the nucleus and may participate in transcriptional regulation through interaction with chromatin-modifying complexes. No post-translational modifications or structural data are currently available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATXN7L2 Knockout HEK293 Cell Line | EDJ-KQ9006 | Human | 127002 | Details Get a Quote |
| ATXN7L2 Knockout A-549 Cell Line | EDJ-KQ35447 | Human | 127002 | Details Get a Quote |
| ATXN7L2 Knockout HCT 116 Cell Line | EDJ-KQ35448 | Human | 127002 | Details Get a Quote |
| ATXN7L2 Knockout HeLa Cell Line | EDJ-KQ35449 | Human | 127002 | Details Get a Quote |
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