KDM6B

lysine demethylase 6B

Summary

The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]

Known Variants410 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54704068017:7,738,526T/G——
rs1165706317:7,745,298C/Tregulatory region variant—
rs131886242217:7,748,877A/G—uncertain significance
rs37333903017:7,748,909G/T—uncertain significance
rs52793323017:7,748,913G/A—uncertain significance
rs77594094717:7,748,927C/T—uncertain significance
rs76482398017:7,748,934G/A—uncertain significance
rs75381996017:7,748,967C/T—uncertain significance
rs74755892917:7,748,982C/T—uncertain significance
rs54473744517:7,748,988G/C—likely benign
rs76039011817:7,749,182C/G—likely benign
rs207852271317:7,749,188A/G—likely pathogenic
rs207852274017:7,749,189G/A—likely pathogenic
rs76326249917:7,749,190A/G—likely benign
rs20208176317:7,749,212C/T—uncertain significance
rs149071255417:7,749,216C/G—uncertain significance
rs14881914617:7,749,217G/A—benign
rs147240976817:7,749,234C/T—uncertain significance
rs159783382817:7,749,235C/T—likely benign
rs14453519617:7,749,236C/G—uncertain significance
rs134878399217:7,749,272C/T—uncertain significance
rs156778885917:7,749,277T/A—uncertain significance
rs215137552917:7,749,289G/A—likely pathogenic
rs118113373017:7,749,291G/C—uncertain significance
rs14136971717:7,749,407C/T—likely benign
rs254452008917:7,749,414C/G—likely benign
rs37394282617:7,749,418C/T—uncertain significance
rs129356051317:7,749,420T/C—likely benign
rs139901607217:7,749,422G/A—uncertain significance
rs207853105717:7,749,442G/A—uncertain significance
rs254452017017:7,749,451C/G—uncertain significance
rs74994325117:7,749,464G/A—uncertain significance
rs76619679317:7,749,473C/G—uncertain significance
rs254452028017:7,749,502C/T—likely pathogenic
rs77375899517:7,749,541C/G—uncertain significance
rs95752058517:7,749,562C/T—pathogenic
rs207853426217:7,749,590G/C—uncertain significance
rs74852279417:7,749,596G/A—likely benign
rs125931342717:7,749,599T/C—uncertain significance
rs141991707917:7,749,604C/T—conflicting classifications of pathogenicity
rs77364129817:7,749,605G/C—uncertain significance
rs207853799717:7,749,705C/T—likely benign
rs77645273717:7,749,712C/T—uncertain significance
rs118827969917:7,749,724C/T—uncertain significance
rs207853974217:7,749,757C/T—pathogenic
rs14383036217:7,749,783G/A—likely benign
rs76140118117:7,749,784C/T—likely pathogenic
rs254452138917:7,749,803A/C—uncertain significance
rs37753715617:7,749,816G/C—likely benign
rs142526327817:7,749,910A/G—uncertain significance
rs254452165317:7,749,919A/G—likely benign
rs89809076317:7,749,922G/A—uncertain significance
rs77064416517:7,749,931C/T—uncertain significance
rs77412780617:7,749,933C/G—uncertain significance
rs19955763617:7,749,934C/T—uncertain significance
rs14363245417:7,749,935G/A—likely benign
rs76198166017:7,749,942C/T—pathogenic
rs14864195717:7,749,972G/T—conflicting classifications of pathogenicity
rs76977056217:7,750,007G/C—uncertain significance
rs254452186617:7,750,032C/T—pathogenic
rs254452187717:7,750,039G/C—uncertain significance
rs75134328817:7,750,137A/G—conflicting classifications of pathogenicity
rs254452216417:7,750,153G/A—likely benign
rs76486933417:7,750,181A/C—likely benign
rs207855577717:7,750,200C/T—uncertain significance
rs207855595317:7,750,202A/C—likely benign
rs215137631117:7,750,205A/C—likely benign
rs207855676617:7,750,208A/C—likely benign
rs77279626217:7,750,211A/C—likely benign
rs13913901617:7,750,214A/G—likely benign
rs1107870917:7,750,232T/C—benign
rs254452272117:7,750,242C/T—uncertain significance
rs159783792617:7,750,248C/G—uncertain significance
rs76906792917:7,750,260C/T—uncertain significance
rs14663753517:7,750,262A/G—likely benign
rs207856028617:7,750,273G/A—uncertain significance
rs77407025717:7,750,291C/T—uncertain significance
rs37183333317:7,750,305C/T—likely benign
rs36756600617:7,750,306G/A—uncertain significance
rs20180889217:7,750,310G/A—benign
rs76398766517:7,750,317G/A—likely benign
rs75510381417:7,750,329C/T—conflicting classifications of pathogenicity
rs1187079917:7,750,416C/T—benign
rs76185612217:7,750,417C/T—likely benign
rs134538022817:7,750,423G/A—likely benign
rs77949893417:7,750,460C/T—uncertain significance
rs74668446917:7,750,463C/T—likely benign
rs74788845617:7,750,474A/G—uncertain significance
rs131952113717:7,750,477G/A—likely benign
rs37005856117:7,750,478C/T—likely benign
rs20112118917:7,750,495C/T—likely benign
rs37556895217:7,750,506G/A—likely benign
rs75888832117:7,750,511C/G—uncertain significance
rs89956511117:7,750,518A/C—likely benign
rs135766189517:7,750,524A/C—likely benign
rs74920909517:7,750,528C/A—uncertain significance
rs77575333217:7,750,532G/A—likely benign
rs136238451417:7,750,543G/C—uncertain significance
rs254452356717:7,750,562T/C—likely benign
rs100399827517:7,750,580C/A—uncertain significance

Showing 100 of 410 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.