ATXN2L Gene Summary [Human]
This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | ATXN2L |
| Official Name | ataxin 2 like [Source:HGNC Symbol;Acc:HGNC:31326] |
| Ensembl ID | ENSG00000168488 |
| Bio databases IDs | |
| Aliases | ataxin 2 like |
| Synonyms | A2D, A2LG, A2LP, A2RP, ataxin 2-like, Atxnl2, LOC687716, RGD1565868 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ATXN2L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ataxin 2 SM domain
- LsmAD domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- cellular membrane
- cytosol
- nuclear speckles
- stress granule
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATXN2L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- stress granule assembly
- mRNA metabolic process
Cellular Component
Where in the cell the gene product is active
- cytoplasmic stress granule
- nuclear speck
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- RNA binding
- protein binding
- cadherin binding
- mRNA binding