Pages
Products

ATXN2


Official Full Name
ataxin 2
Organism
Homo sapiens
Gene ID
6311
Background
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 encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein 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. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Synonyms
ATX2; SCA2; TNRC13

Cat.No. Product Name Price
SHG085553 shRNA set against Mouse Atxn2(NM_009125.2) Inquiry
SHH243558 shRNA set against Human ATXN2 (NM_002973.3) Inquiry
SHH243562 shRNA set against Mouse ATXN2 (NM_009125.2) Inquiry
SHW012746 shRNA set against Danio rerio ATXN2 (NM_001128349) Inquiry
Cat.No. Product Name Price
CDFL001656 Mouse Atxn2 cDNA Clone(NM_009125.2) Inquiry
MiUTR1M-01852 ATXN2 miRNA 3'UTR clone Inquiry
MiUTR4H-TG00663 ATXN2 miRNA 3'UTR clone Inquiry
CDCB174221 Danio rerio ATXN2 ORF Clone (NM_001128349) Inquiry
CDCB185778 Rabbit ATXN2 ORF clone (XM_008272238.1) Inquiry
CDCR032286 Mouse Atxn2 ORF clone (NM_009125.2) Inquiry
Quick Inquiry