ARID5B

AT-rich interaction domain 5B

Summary

This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

Known Variants95 total

rsidPosition (GRCh37)AllelesClassClinVar
rs450970610:63,661,340T/C—benign
rs133639464910:63,661,931C/A—uncertain significance
rs105314930110:63,662,033G/A—uncertain significance
rs14362145010:63,662,036C/A—uncertain significance
rs7283333410:63,663,562A/Gregulatory region variant—
rs792137810:63,674,885G/Cintron variant—
rs1337716810:63,675,271T/Aintron variant—
rs708352610:63,675,843T/Cintron variant—
rs647977910:63,695,048C/Gintron variant—
rs289388010:63,697,616C/Gregulatory region variant—
rs18908880210:63,699,188T/Cregulatory region variant—
rs707383710:63,699,895A/Cregulatory region variant—
rs76077001110:63,700,002G/C—uncertain significance
rs20075636310:63,700,007T/G—uncertain significance
rs37044609710:63,700,040C/T—likely benign
rs95949870210:63,700,099A/G—uncertain significance
rs125115674110:63,700,125G/A—uncertain significance
rs249272463010:63,700,146C/A—uncertain significance
rs76279606810:63,700,152G/C—uncertain significance
rs1099498210:63,710,104A/C——
rs1074005510:63,718,479C/T——
rs494849210:63,719,739C/Tintron variant—
rs709044510:63,721,176C/Tregulatory region variant—
rs424559510:63,722,895C/Tintron variant—
rs1082193610:63,723,577C/A——
rs1076159810:63,739,860T/G——
rs708750710:63,745,689A/Gintron variant—
rs1099499410:63,747,685T/Cregulatory region variant—
rs708942410:63,752,159T/Gregulatory region variant—
rs1076160010:63,757,120A/G——
rs15010565410:63,759,975C/T—likely benign
rs116623008310:63,760,005C/T—uncertain significance
rs183905833710:63,760,027A/C—uncertain significance
rs7150890310:63,779,871C/Tregulatory region variant—
rs6752716110:63,781,824T/Cintron variant—
rs1082194410:63,785,089G/Tregulatory region variant—
rs1235531310:63,805,376A/T——
rs494849610:63,805,617T/A——
rs374035710:63,808,960T/Cregulatory region variant—
rs36857569710:63,810,684A/G—likely benign
rs76239157910:63,810,734A/G—uncertain significance
rs1691693110:63,813,744A/G——
rs249286910410:63,817,025G/C—uncertain significance
rs76305474410:63,817,034G/C—uncertain significance
rs1082195210:63,818,425T/Aintron variant—
rs709087110:63,830,286T/Cintron variant—
rs3580959510:63,831,928G/Aregulatory region variant—
rs14195163310:63,845,591A/G—uncertain significance
rs140999758410:63,845,604T/C—uncertain significance
rs135230934510:63,845,613G/A—uncertain significance
rs790372210:63,847,284T/A——
rs15005137410:63,850,719G/A—likely benign
rs126989518810:63,850,785C/G—uncertain significance
rs147878785610:63,850,821G/A—likely benign
rs77140119410:63,850,874A/T—uncertain significance
rs249291760710:63,850,876G/C—uncertain significance
rs37028454110:63,850,928C/T—uncertain significance
rs184036582310:63,850,970C/T—uncertain significance
rs136049881610:63,850,986T/A—uncertain significance
rs20220566810:63,851,033C/T—uncertain significance
rs11729724710:63,851,034G/A—benign
rs14307485210:63,851,074G/A—benign
rs78113694410:63,851,078T/C—uncertain significance
rs122911217110:63,851,108A/C—uncertain significance
rs14071642910:63,851,130C/T—likely benign
rs77826291510:63,851,131G/T—uncertain significance
rs249291829010:63,851,155A/T—uncertain significance
rs76738195510:63,851,213G/A—uncertain significance
rs131809589510:63,851,329A/G—uncertain significance
rs14199758510:63,851,365C/G—uncertain significance
rs14633631210:63,851,400T/A—uncertain significance
rs14185256210:63,851,453T/C—uncertain significance
rs20154264710:63,851,456C/T—uncertain significance
rs53589670510:63,851,457G/A—likely benign
rs75022650310:63,851,485G/A—uncertain significance
rs36990487810:63,851,576G/A—uncertain significance
rs102841221310:63,851,584T/A—uncertain significance
rs14480962310:63,851,624T/C—benign
rs147713008510:63,851,670A/G—likely benign
rs14752176110:63,851,683C/G—uncertain significance
rs126940732910:63,851,693T/C—uncertain significance
rs14508876010:63,851,784C/A—likely benign
rs184038591410:63,851,839C/T—uncertain significance
rs184038635110:63,851,857C/T—uncertain significance
rs36868343910:63,851,877G/A—likely benign
rs11702320010:63,851,958G/A—benign
rs6174375010:63,852,135G/A—benign
rs249292130410:63,852,242G/C—uncertain significance
rs93540987510:63,852,306C/T—likely benign
rs57141323610:63,852,311C/T—uncertain significance
rs130086687410:63,852,392C/T—uncertain significance
rs74727994410:63,852,425G/T—uncertain significance
rs184040375010:63,852,549G/C—uncertain significance
rs249292223710:63,852,600G/A—uncertain significance
rs14955793410:63,852,730C/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.

ARID5B — AT-rich interaction domain 5B