Aliases for ATXN2 Gene
External Ids for ATXN2 Gene
Previous Symbols for ATXN2 Gene
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010]
GeneCards Summary for ATXN2 Gene
ATXN2 (Ataxin 2) is a Protein Coding gene. Diseases associated with ATXN2 include spinocerebellar ataxia 2 and ataxia. Among its related pathways are Akt Signaling and Parkinsons Disease Pathway. GO annotations related to this gene include RNA binding and epidermal growth factor receptor 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.