Aliases for ATXN2 Gene
External Ids for ATXN2 Gene
Previous HGNC Symbols for ATXN2 Gene
Previous GeneCards Identifiers for ATXN2 Gene
This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The protein is primarily localized to the Golgi apparatus, with deletion of the Golgi and endoplasmic reticulum signals resulting in abnormal subcellular localization. In addition, the N-terminal region contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
GeneCards Summary for ATXN2 Gene
ATXN2 (Ataxin 2) is a Protein Coding gene. Diseases associated with ATXN2 include Spinocerebellar Ataxia 2 and Parkinson Disease, Late-Onset. Among its related pathways are Akt Signaling and Parkinsons Disease Pathway. GO annotations related to this gene include poly(A) RNA binding and protein C-terminus binding. An important paralog of this gene is ATXN2L.
UniProtKB/Swiss-Prot for ATXN2 Gene
Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.