SCARB2

scavenger receptor class B member 2

Summary

The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

Known Variants443 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37332554:77,082,749C/T—benign
rs37332564:77,082,799G/C—benign
rs21099305644:77,082,870G/T—uncertain significance
rs14804818444:77,082,873C/T—uncertain significance
rs7809856514:77,082,878G/A—likely benign
rs11914336804:77,082,887T/G—uncertain significance
rs7559035024:77,082,891T/Amissense variantuncertain significance
rs1448786664:77,082,896C/T—likely benign
rs7522953744:77,082,897G/A—uncertain significance
rs7960529484:77,082,900G/A—uncertain significance
rs17319032724:77,082,912A/G—likely benign
rs15787110634:77,082,914A/C—likely benign
rs13926860464:77,082,915G/C—likely benign
rs7715180314:77,082,917A/G—likely benign
rs24762067194:77,082,919A/T—likely benign
rs7772552964:77,082,920G/C—likely benign
rs37558904:77,083,082A/T—benign
rs602717764:77,083,110T/C—likely benign
rs759451814:77,083,124C/A—benign
rs726555264:77,083,184A/G—benign
rs7559199064:77,084,370G/T—likely benign
rs12388880974:77,084,383C/T—uncertain significance
rs13154965584:77,084,390T/A—likely benign
rs1171572044:77,084,391C/T—likely benign
rs13294512304:77,084,398C/T—uncertain significance
rs15787120324:77,084,403C/A—uncertain significance
rs17319351404:77,084,405T/G—likely benign
rs7573818664:77,084,407C/G—uncertain significance
rs9956743894:77,084,411C/Tstop gainedpathogenic
rs13502139564:77,084,437C/G—uncertain significance
rs7683433874:77,084,444C/T—likely benign
rs7739576594:77,084,445G/A—uncertain significance
rs12328638384:77,084,447C/T—uncertain significance
rs1412501354:77,084,448A/G—uncertain significance
rs3768069994:77,084,449T/C—uncertain significance
rs10647944504:77,084,451A/G—uncertain significance
rs24762106334:77,084,457T/C—uncertain significance
rs17319370174:77,084,459G/C—likely benign
rs7730364324:77,084,460G/A—uncertain significance
rs7605928044:77,084,463A/G—uncertain significance
rs5643322394:77,084,464T/C—uncertain significance
rs17319375444:77,084,469G/A—uncertain significance
rs24762106964:77,084,471G/A—likely benign
rs10355403434:77,084,474G/C—uncertain significance
rs7536214104:77,084,476T/C—uncertain significance
rs21099319374:77,084,493A/G—uncertain significance
rs7463700594:77,084,494T/C—conflicting classifications of pathogenicity
rs17319383104:77,084,501C/T—likely benign
rs7644522454:77,084,503G/A—likely benign
rs7518274094:77,084,505C/T—uncertain significance
rs8860410784:77,084,506G/Astop gainedpathogenic
rs1503302994:77,084,510C/T—likely benign
rs7566068134:77,084,511G/A—uncertain significance
rs1379925474:77,084,513C/T—likely benign
rs1494744884:77,084,514G/A—uncertain significance
rs7275027824:77,084,518——pathogenic
rs7803268594:77,084,521T/C—uncertain significance
rs7785934964:77,084,527T/C—uncertain significance
rs12627226864:77,084,531A/C—likely benign
rs10016784234:77,084,534A/G—likely benign
rs24762109994:77,084,538T/C—likely pathogenic
rs7473437764:77,084,540G/A—likely benign
rs17319400844:77,084,542G/C—likely benign
rs3695579054:77,084,545G/A—likely benign
rs21099319904:77,084,551A/C—likely benign
rs3719402494:77,084,554T/C—likely benign
rs13721613744:77,084,556G/A—likely benign
rs355835334:77,084,589T/C—benign
rs68580144:77,085,729C/T——
rs7786312364:77,087,388C/T—likely benign
rs1436999094:77,087,389G/A—likely benign
rs7553486134:77,087,391C/T—likely benign
rs3692657254:77,087,395G/C—likely benign
rs7275027724:77,087,402C/A—pathogenic
rs7716619014:77,087,407T/C—uncertain significance
rs24762189474:77,087,409G/C—likely benign
rs7772708134:77,087,413T/A—uncertain significance
rs18033914:77,087,418C/T—likely benign
rs1471421164:77,087,432T/C—conflicting classifications of pathogenicity
rs7703437014:77,087,434G/A—uncertain significance
rs14051394214:77,087,441T/C—uncertain significance
rs5744989984:77,087,448C/T—likely benign
rs7594931344:77,087,449G/A—conflicting classifications of pathogenicity
rs12513926424:77,087,457A/G—uncertain significance
rs7753875264:77,087,459A/G—likely benign
rs14800255424:77,087,469G/A—likely benign
rs24762191304:77,087,473A/C—likely benign
rs76648894:77,087,704G/T—benign
rs1115621164:77,087,713G/C—likely benign
rs601576514:77,089,311G/C—benign
rs1924129834:77,089,461A/C—likely benign
rs744386844:77,089,475G/C—benign
rs752171484:77,089,499C/T—benign
rs13795677074:77,089,536T/C—likely benign
rs2021590284:77,089,538G/A—likely benign
rs24762245854:77,089,543A/G—likely benign
rs5326512604:77,089,544A/G—likely benign
rs17320595514:77,089,546C/G—likely benign
rs22283804:77,089,557C/T—benign
rs12235780184:77,089,561G/A—likely benign

Showing 100 of 443 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.