ATXN2

ataxin 2

Summary

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]

Known Variants133 total

rsidPosition (GRCh37)AllelesClassClinVar
rs36773278212:111,891,572G/A—uncertain significance
rs77541138712:111,891,598T/C—benign
rs76986543012:111,893,861T/C—uncertain significance
rs14316615512:111,893,869C/T—benign
rs213564734112:111,893,873G/A—uncertain significance
rs124722515812:111,893,916C/G—uncertain significance
rs77815691612:111,893,962C/T—uncertain significance
rs207395012:111,894,072C/T—benign
rs75982598812:111,895,070C/A—uncertain significance
rs14910978912:111,895,122C/T—uncertain significance
rs250030169112:111,895,129G/T—uncertain significance
rs7850394412:111,900,779T/C——
rs74734072312:111,902,505G/A—uncertain significance
rs250033544012:111,902,513G/A—uncertain significance
rs14024231712:111,902,514G/A—likely benign
rs476657812:111,904,371T/Aintron variant—
rs76253819312:111,908,403T/G—uncertain significance
rs134387635112:111,908,535G/A—uncertain significance
rs14026259112:111,908,545T/C—conflicting classifications of pathogenicity
rs1077462512:111,910,219A/T——
rs11181825312:111,910,590C/T——
rs133814081912:111,923,123T/G—uncertain significance
rs76331984512:111,923,526T/C—likely benign
rs187760163712:111,923,660A/G—uncertain significance
rs20211653512:111,923,670C/T—uncertain significance
rs77598513512:111,926,287C/T—uncertain significance
rs148357147212:111,926,376T/C—uncertain significance
rs102766035712:111,926,409A/G—uncertain significance
rs76305070712:111,926,423C/T—likely benign
rs76665529512:111,926,424G/A—uncertain significance
rs75262931612:111,926,466A/G—likely benign
rs250043377612:111,926,482C/T—uncertain significance
rs213570230812:111,926,512C/T—uncertain significance
rs14590386212:111,926,562T/C—uncertain significance
rs57007482112:111,926,961A/G——
rs713782812:111,932,800C/G——
rs14342399812:111,933,070C/Tintron variant—
rs7746563312:111,933,545C/Aintron variant—
rs55101409212:111,936,993G/A——
rs19119726712:111,939,424G/Aintron variant—
rs223815312:111,939,547G/Aintron variant—
rs1106593312:111,942,493T/Cintron variant—
rs61459112:111,946,435A/C——
rs86738185512:111,947,367T/G—uncertain significance
rs76049004012:111,947,703T/A—uncertain significance
rs20201494512:111,947,712G/A—uncertain significance
rs78099770212:111,948,200G/A—uncertain significance
rs14406638312:111,948,201G/C—uncertain significance
rs76566986012:111,948,239G/A—uncertain significance
rs20098466012:111,948,255T/C—likely benign
rs79656540312:111,948,297G/C—uncertain significance
rs14977493012:111,948,320G/T—uncertain significance
rs77482784812:111,951,193G/A—likely pathogenic, low penetrance
rs124428075212:111,951,218G/A—uncertain significance
rs13874229012:111,952,029A/Gintron variant—
rs14581095812:111,956,065C/T—uncertain significance
rs77193130412:111,956,067C/T—uncertain significance
rs53897976812:111,956,106T/A—uncertain significance
rs254189646312:111,956,119T/C—uncertain significance
rs77184338312:111,956,191C/G—likely benign
rs54217777012:111,956,218T/C—uncertain significance
rs11785190112:111,956,226T/C—benign
rs100773752212:111,957,725T/C—uncertain significance
rs14832504512:111,957,729C/T—uncertain significance
rs37649201912:111,957,888A/G—likely benign
rs14082051612:111,957,959A/Gintron variant—
rs77370836812:111,958,765C/T—uncertain significance
rs254191163412:111,963,039T/G—uncertain significance
rs1106593912:111,963,570C/G——
rs53576486012:111,966,935T/A——
rs59871112:111,973,140A/T——
rs59780812:111,973,358A/C——
rs53669241612:111,978,537C/T——
rs62940412:111,982,813T/G——
rs66672712:111,989,658C/Tintron variant—
rs56980609812:111,990,118C/A—uncertain significance
rs76293087612:111,990,161A/G—uncertain significance
rs254196982512:111,990,168C/G—uncertain significance
rs93196251412:111,990,213C/T—uncertain significance
rs254197136412:111,990,742A/G—uncertain significance
rs127561114412:111,990,777G/C—uncertain significance
rs796930012:111,993,712C/Gmissense variant—
rs37089652512:111,993,718C/T—uncertain significance
rs1106595012:111,994,852A/Cintron variant—
rs65317812:112,007,756C/G——
rs11140720012:112,010,086C/Aintron variant—
rs6194126112:112,013,941T/A——
rs6194126212:112,013,944C/A——
rs1106596112:112,023,067G/Aregulatory region variant—
rs54024440112:112,024,096G/A——
rs56299674412:112,036,660G/A—uncertain significance
rs143382029312:112,036,672G/C—uncertain significance
rs134093757612:112,036,747G/C—uncertain significance
rs76122172412:112,036,762T/G—uncertain significance
rs123184159312:112,036,773C/T—likely benign
rs7669602812:112,036,782T/C—benign
rs76411177112:112,036,785C/G—uncertain significance
rs118078767212:112,036,791C/T—likely benign
rs409885412:112,036,797C/T—benign
rs119616211012:112,036,806C/T—likely benign

Showing 100 of 133 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.