IRAG1

inositol 1,4,5-triphosphate receptor associated 1

Summary

This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protein whose expression is down-regulated during lymphoid differentiation. This protein is a substrate of cGMP-dependent kinase-1 (PKG1) that can function as a regulator of IP3-induced calcium release. Studies in mouse suggest that MRV integration at Mrvi1 induces myeloid leukemia by altering the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, and alternative translation start sites, including a non-AUG (CUG) start site, are used. [provided by RefSeq, May 2011]

Known Variants83 total

rsidPosition (GRCh37)AllelesClassClinVar
rs74875289711:10,597,994T/A—uncertain significance
rs75938823311:10,598,018A/G—uncertain significance
rs117314057311:10,598,073A/G—uncertain significance
rs18564772911:10,602,068C/T—uncertain significance
rs76784032711:10,602,125C/T—uncertain significance
rs20032465411:10,603,457G/T—uncertain significance
rs11657352911:10,611,719G/Aintron variant—
rs7622450511:10,612,546T/Cintron variant—
rs77605203811:10,613,143C/T—uncertain significance
rs76398344911:10,613,158G/A—uncertain significance
rs76837186411:10,615,140G/A—uncertain significance
rs76075136511:10,615,727C/T—uncertain significance
rs11452781811:10,619,041T/Aintron variant—
rs37176063311:10,622,498T/G—uncertain significance
rs37631755211:10,622,527G/A—uncertain significance
rs55839264911:10,622,599C/A—uncertain significance
rs74613288811:10,624,708G/A—uncertain significance
rs76231463911:10,624,738C/T—uncertain significance
rs19992820511:10,624,764C/T—uncertain significance
rs75957688711:10,625,953G/A—uncertain significance
rs253894272011:10,625,999C/T—uncertain significance
rs1690803311:10,628,279A/C—benign
rs77543844911:10,628,306T/C—uncertain significance
rs253896065311:10,631,288T/G—uncertain significance
rs36834790011:10,631,308C/T—uncertain significance
rs54132998011:10,631,330T/C—uncertain significance
rs115667777311:10,631,393G/C—uncertain significance
rs156491294211:10,645,361G/A—uncertain significance
rs142235126511:10,645,399T/C—uncertain significance
rs75018545911:10,647,605C/A—uncertain significance
rs74721509911:10,647,619C/T—uncertain significance
rs20055673611:10,647,668G/A—benign
rs185622715511:10,647,674C/T—uncertain significance
rs75611455111:10,647,731C/G—uncertain significance
rs77280401011:10,647,772A/G—likely benign
rs185623578311:10,647,779C/T—uncertain significance
rs3439894411:10,647,798C/G—benign
rs77774478311:10,647,817A/G—uncertain significance
rs74630011411:10,647,833G/C—uncertain significance
rs37195644211:10,647,847G/A—uncertain significance
rs20019792511:10,647,880A/C—uncertain significance
rs20048085811:10,647,905C/A—uncertain significance
rs20141644111:10,647,956C/T—uncertain significance
rs37079654711:10,647,970T/C—uncertain significance
rs77196082911:10,648,028T/C—uncertain significance
rs56581141911:10,648,057C/T—uncertain significance
rs77318342211:10,648,063G/A—uncertain significance
rs76306196511:10,648,068C/A—uncertain significance
rs75699257811:10,648,111G/A—uncertain significance
rs20055009911:10,648,129T/C—uncertain significance
rs20134596311:10,649,297T/G—likely benign
rs5984197711:10,649,543G/C—uncertain significance
rs37337112011:10,650,303G/A—uncertain significance
rs19076114911:10,650,350G/A—likely benign
rs54079083111:10,650,366G/A—uncertain significance
rs3585756111:10,650,367G/A—benign
rs20185987711:10,651,136G/A—likely benign
rs37187713111:10,651,152C/G—uncertain significance
rs76685119611:10,651,250C/A—uncertain significance
rs14962018111:10,651,252G/A—uncertain significance
rs20074559911:10,653,591T/C—likely benign
rs14223224711:10,653,895G/Aintron variant—
rs5640336511:10,654,684C/Tintron variant—
rs253905584911:10,655,518T/C—uncertain significance
rs75492760011:10,655,578G/A—uncertain significance
rs76585743711:10,655,606C/T—likely benign
rs1160317811:10,660,067T/G——
rs794064611:10,669,228T/Cregulatory region variant—
rs76382734711:10,673,577C/T—likely benign
rs77924489811:10,673,584G/C—uncertain significance
rs3513506311:10,673,604C/G—conflicting classifications of pathogenicity
rs76916201011:10,673,606C/A—uncertain significance
rs130795586111:10,673,650C/G—uncertain significance
rs76561286711:10,673,666C/T—uncertain significance
rs78002603211:10,673,675G/A—uncertain significance
rs3430231011:10,673,688C/T—benign
rs74694532911:10,673,726C/T—uncertain significance
rs490994511:10,673,739T/Cintron variant—
rs794795311:10,684,060A/C——
rs88186911:10,689,454C/T——
rs187444511:10,691,721T/G——
rs105088835611:10,715,109C/G—uncertain significance
rs134487296611:10,715,137G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.