ATXN2
ATXN2 (ataxin 2; also ATX2, SCA2 and TNRC13) is a cytoplasmic protein that acts as a negative regulator of endocytic EGFR internalisation at the plasma membrane. Expansion of a polyglutamine tract in the ATXN2 protein is linked to spinocerebellar ataxia-2 and to susceptibility to amyotrophic lateral sclerosis. Browse Assay Genie's current range of ATXN2 research reagents below, or read on for the biology behind the target.
ATXN2 is involved in EGFR trafficking, where it acts as a negative regulator of endocytic EGFR internalisation at the plasma membrane. The encoded cytoplasmic protein localises to the endoplasmic reticulum and plasma membrane and is involved in endocytosis. It also modulates mTOR signalling, which in turn influences ribosomal translation and mitochondrial function.
The ATXN2 protein belongs to the ataxin-2 family. It 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 N-terminal region also holds a polyglutamine tract of 14-31 residues. Alternative splicing of the ATXN2 gene results in multiple transcript variants. The mouse ortholog is Atxn2.
ATXN2 belongs to a group of genes associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short repetitive DNA stretches. In the pathogenic state the polyglutamine tract expands to 32-200 residues. Intermediate expansions increase susceptibility to amyotrophic lateral sclerosis, while long expansions cause spinocerebellar ataxia-2, an autosomal-dominant neurodegenerative disorder. This origin explains the earlier name, spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2). Genome-wide association studies also suggest that loss-of-function mutations may be associated with susceptibility to type I diabetes, obesity and hypertension.
Long polyglutamine expansions in ATXN2 result in spinocerebellar ataxia-2, an autosomal-dominantly inherited neurodegenerative disorder.
Intermediate-length expansions of the ATXN2 polyglutamine tract increase susceptibility to amyotrophic lateral sclerosis.
ATXN2 negatively regulates endocytic EGFR internalisation at the plasma membrane and is involved in endocytosis.
ATXN2 modulates mTOR signals, affecting ribosomal translation and mitochondrial function, and has genetic associations with diabetes, obesity and hypertension.
ATXN2 is involved in EGFR trafficking and acts as a negative regulator of endocytic EGFR internalisation at the plasma membrane. It is a cytoplasmic protein found at the endoplasmic reticulum and plasma membrane, and it modulates mTOR signals, affecting ribosomal translation and mitochondrial function.
ATXN2 is also known as ATX2, SCA2 and TNRC13. The HGNC name is ataxin 2, and the gene was previously named spinocerebellar ataxia 2. Alternative splicing produces multiple transcript variants, so check the datasheet of any product for its validated reactivity and target region.
The ATXN2 polyglutamine tract is normally 14-31 residues. Intermediate expansions increase susceptibility to amyotrophic lateral sclerosis, and expansions of 32-200 residues cause spinocerebellar ataxia-2. Loss-of-function mutations may be associated with type I diabetes, obesity and hypertension susceptibility.
Other ataxin proteins associated with polyglutamine and spinocerebellar ataxia research, with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q99700; product specifications from Assay Genie datasheets.