| Ensembl ID | Symbol | Entrez ID | RBD | RBPome | PRI | Expresion | Pathway | Phenotype | Paralog | Ortholog | GO |
|---|---|---|---|---|---|---|---|---|---|---|---|
This domain is found associated with Lsm domain [1].
This entry represents a conserved region approximately 250 residues long located on eukaryotic ataxin-2 [PUBMED:16115810]. Ataxin-2 is a protein of unknown function, within which expansion of a polyglutamine tract (due to expansion of unstable CAG repeats in the coding region of the SCA2 gene) causes spinocerebellar ataxia type 2 (SCA2), a late-onset neurodegenerative disorder [PUBMED:9339681]. The expanded polyglutamine repeat in ataxin-2 causes disruption of the normal morphology of the Golgi complex and increased incidence of cell death [PUBMED:12812977]. Ataxin-2 is predicted to consist of mostly non-globular domains [PUBMED:9462862].
Ralser M, Nonhoff U, Albrecht M, Lengauer T, Wanker EE, Lehrach H, Krobitsch S; , Hum Mol Genet. 2005;14:2893-2909.: Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways. PUBMED:16115810 EPMC:16115810.
