SREBF2

sterol regulatory element binding transcription factor 2

Summary

This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Known Variants122 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18513414922:42,229,040A/G—benign
rs4127747122:42,229,092G/C—benign
rs52796631922:42,229,287G/C—uncertain significance
rs130200914222:42,229,332G/C—uncertain significance
rs599607422:42,236,337G/C——
rs226743922:42,237,769C/Tintron variant—
rs228408222:42,240,797C/Tregulatory region variant—
rs75783105822:42,262,895T/C—uncertain significance
rs54680193522:42,262,947T/C—benign
rs251869484822:42,263,024C/A—uncertain significance
rs132782292822:42,263,054C/G—uncertain significance
rs75193688222:42,263,092G/C—uncertain significance
rs222943822:42,263,112C/A—benign
rs74837763522:42,263,155C/T—uncertain significance
rs144240061422:42,263,204C/T—uncertain significance
rs13968063022:42,263,272A/G—uncertain significance
rs20115492122:42,264,752G/T—uncertain significance
rs87363822:42,264,775G/A—benign
rs14647843222:42,264,796G/A—likely benign
rs77145779122:42,266,962C/G—uncertain significance
rs77517825222:42,266,969T/C—uncertain significance
rs91638454322:42,266,983A/C—uncertain significance
rs75506656322:42,266,998G/A—uncertain significance
rs960785322:42,267,196C/T—benign
rs13329122:42,269,628C/Tregulatory region variantbenign
rs78088839022:42,269,850A/G—uncertain significance
rs74764159122:42,269,851T/C—uncertain significance
rs251870759522:42,269,938A/G—uncertain significance
rs122258462922:42,269,988G/A—uncertain significance
rs122349888722:42,270,006A/T—uncertain significance
rs75076556222:42,271,356G/A—uncertain significance
rs222943922:42,271,363G/A—likely benign
rs77129248522:42,271,570G/A—uncertain significance
rs75997147422:42,271,577T/C—uncertain significance
rs76130995922:42,271,582G/A—uncertain significance
rs7480596822:42,271,653C/A—uncertain significance
rs76469678822:42,271,682A/G—uncertain significance
rs251871415422:42,273,300G/A—uncertain significance
rs36889295722:42,273,384C/T—uncertain significance
rs251871459022:42,273,402G/A—uncertain significance
rs1784834622:42,273,462G/A—benign
rs7835917122:42,273,842A/G—benign
rs962346522:42,274,034T/G—benign
rs207721370122:42,274,053G/C—uncertain significance
rs55798937422:42,274,070G/A—likely benign
rs482206222:42,274,287G/A—benign
rs222831422:42,276,742G/Cmissense variantbenign
rs91145830722:42,276,789T/G—uncertain significance
rs14252064222:42,276,792C/T—uncertain significance
rs14755292122:42,276,801C/A—uncertain significance
rs37359148822:42,276,804G/T—uncertain significance
rs14189218822:42,276,824C/T—likely benign
rs222944022:42,276,825G/A—benign
rs37173321722:42,276,889G/A—uncertain significance
rs13880786822:42,276,894C/T—uncertain significance
rs37648236922:42,276,949G/T—uncertain significance
rs37291148722:42,280,866G/A—likely benign
rs18508052122:42,280,875G/A—uncertain significance
rs11243545222:42,280,889G/A—benign
rs133854716422:42,280,918C/T—uncertain significance
rs37423459822:42,280,967T/C—likely benign
rs962346622:42,281,149T/G—benign
rs105271722:42,281,429A/Gintron variant—
rs226744322:42,287,454A/Gintron variant—
rs600252422:42,288,994T/G—benign
rs74792974422:42,289,229C/T—uncertain significance
rs91680254822:42,289,280A/G—uncertain significance
rs13998635322:42,289,299C/G—benign
rs1700274522:42,289,317T/C—benign
rs599608022:42,289,466T/C—benign
rs482206622:42,289,500G/A—benign
rs251874641322:42,290,846C/A—uncertain significance
rs75070701522:42,290,864C/G—uncertain significance
rs13909968022:42,290,867G/A—likely benign
rs1700274722:42,291,122C/G—benign
rs1784834822:42,292,885C/T—benign
rs226965922:42,292,896C/Tupstream gene variant—
rs226966022:42,292,923G/A—benign
rs14714695222:42,293,064C/T—uncertain significance
rs36798861022:42,293,114G/A—uncertain significance
rs14920565122:42,293,130C/A—uncertain significance
rs77431400122:42,293,136C/T—uncertain significance
rs222831322:42,293,140G/C—benign
rs207742398822:42,293,157C/T—uncertain significance
rs75621444622:42,293,159G/A—uncertain significance
rs11432574122:42,293,278A/G—benign
rs251875290122:42,294,646C/T—likely benign
rs75072472522:42,294,656C/T—uncertain significance
rs37525356722:42,294,664A/G—likely benign
rs75582044722:42,294,670C/T—uncertain significance
rs77736578322:42,294,671G/A—uncertain significance
rs36924853822:42,294,720C/T—likely benign
rs1784835122:42,294,751G/C—likely benign
rs20086573222:42,294,757C/T—uncertain significance
rs89509143622:42,294,760A/G—likely benign
rs6079050722:42,296,142G/A—benign
rs5859187822:42,296,179G/C—benign
rs962000022:42,296,703T/C—benign
rs56663090322:42,299,016A/G—uncertain significance
rs103256699922:42,299,103C/T—uncertain significance

Showing 100 of 122 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.