PSMB8

proteasome 20S subunit beta 8

Summary

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]

Known Variants193 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5390159926:32,808,505G/A—uncertain significance
rs8860613096:32,808,558C/T—uncertain significance
rs1154339036:32,808,596C/T—benign
rs561386426:32,808,620G/A—uncertain significance
rs13714965166:32,808,679G/A—uncertain significance
rs1154412306:32,808,712C/A—benign
rs3767509596:32,808,728C/T—conflicting classifications of pathogenicity
rs3717477006:32,808,730C/G—conflicting classifications of pathogenicity
rs24830764746:32,808,741G/C—uncertain significance
rs3685516686:32,808,752C/T—conflicting classifications of pathogenicity
rs3710063386:32,808,753G/A—uncertain significance
rs9468635076:32,808,755T/C—uncertain significance
rs24830766356:32,808,760G/T—uncertain significance
rs3719692686:32,808,763C/T—conflicting classifications of pathogenicity
rs15542385856:32,808,767A/C—uncertain significance
rs21273753566:32,808,769G/C—uncertain significance
rs3695254056:32,808,805A/G—likely benign
rs17698698566:32,808,808T/G—uncertain significance
rs2000168936:32,808,811C/T—conflicting classifications of pathogenicity
rs15826028256:32,808,812T/G—uncertain significance
rs14875879576:32,808,829G/A—likely benign
rs20714646:32,809,076G/A—benign
rs20716276:32,809,223A/C—benign
rs7786802496:32,809,293G/A—likely benign
rs7775518086:32,809,315A/G—likely benign
rs7468971436:32,809,317C/T—uncertain significance
rs789095446:32,809,318G/A—likely benign
rs2009957016:32,809,319C/T—uncertain significance
rs21273760546:32,809,320C/T—uncertain significance
rs21273760686:32,809,323C/T—uncertain significance
rs11316915736:32,809,326A/G—uncertain significance
rs15542388106:32,809,335C/T—uncertain significance
rs13618553226:32,809,340T/C—uncertain significance
rs558530416:32,809,349T/C—conflicting classifications of pathogenicity
rs7679371216:32,809,355A/G—uncertain significance
rs21273761606:32,809,356T/G—uncertain significance
rs12362120036:32,809,360C/T—likely benign
rs5476536816:32,809,364C/T—conflicting classifications of pathogenicity
rs3677548266:32,809,365G/A—uncertain significance
rs21273761986:32,809,378G/A—likely benign
rs1146366486:32,809,380C/A—uncertain significance
rs7545784196:32,809,384T/G—uncertain significance
rs1412733716:32,809,388G/A—conflicting classifications of pathogenicity
rs10440761176:32,809,402C/G—likely benign
rs13047953716:32,809,403C/T—conflicting classifications of pathogenicity
rs1469566086:32,809,404G/A—uncertain significance
rs1379378916:32,809,417C/T—uncertain significance
rs12025028426:32,809,425C/T—uncertain significance
rs2001377296:32,809,426G/A—likely benign
rs24830799146:32,809,441C/T—likely benign
rs11694245536:32,809,444A/G—likely benign
rs3879066806:32,809,448C/Amissense variantpathogenic
rs7772657256:32,809,450C/T—uncertain significance
rs17699172166:32,809,474C/T—likely benign
rs7646720576:32,809,475C/T—uncertain significance
rs7522329856:32,809,476G/A—uncertain significance
rs7625591606:32,809,483A/G—likely benign
rs10122820766:32,809,488C/T—uncertain significance
rs7532812216:32,809,489A/G—likely benign
rs789453586:32,809,494C/T—uncertain significance
rs7513425916:32,809,495G/A—likely benign
rs21273764946:32,809,502A/G—uncertain significance
rs24830804676:32,809,503G/A—uncertain significance
rs17699207636:32,809,506C/T—uncertain significance
rs7808520796:32,809,516T/C—likely benign
rs1839707256:32,809,520A/G—likely benign
rs9239806276:32,809,522G/A—likely benign
rs605070226:32,809,582G/T—benign
rs93571556:32,809,848G/Adownstream gene variantbenign
rs13509862696:32,809,893A/G—likely benign
rs21273769416:32,809,894G/T—likely benign
rs7672928656:32,809,903G/A—conflicting classifications of pathogenicity
rs15826057956:32,809,931T/C—uncertain significance
rs7560498426:32,809,933A/G—uncertain significance
rs7801911556:32,809,936C/T—uncertain significance
rs24830829866:32,809,944A/G—likely benign
rs115401436:32,809,947G/A—likely benign
rs7471995896:32,809,955T/C—uncertain significance
rs3694741466:32,809,956G/A—likely benign
rs558359066:32,809,961G/A—uncertain significance
rs412704926:32,809,965C/T—likely benign
rs21273771176:32,809,967G/A—pathogenic
rs3720303096:32,809,978T/C—uncertain significance
rs17699512186:32,809,981G/A—uncertain significance
rs7498001306:32,809,997C/T—uncertain significance
rs5614715586:32,810,001C/T—likely benign
rs15826062526:32,810,007T/C—likely benign
rs12229742016:32,810,014C/T—uncertain significance
rs1160766906:32,810,015G/A—likely benign
rs17699552696:32,810,018C/T—uncertain significance
rs11818186436:32,810,026C/T—uncertain significance
rs3749296126:32,810,027G/A—pathogenic
rs7641875006:32,810,040C/G—uncertain significance
rs7574768446:32,810,057T/C—likely benign
rs10203936266:32,810,442C/T—conflicting classifications of pathogenicity
rs92768106:32,810,443A/G—benign
rs1462549726:32,810,451G/T—pathogenic
rs17699913796:32,810,463C/T—likely benign
rs12959542666:32,810,464A/G—uncertain significance
rs3690782266:32,810,470C/A—uncertain significance

Showing 100 of 193 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.