UBE3B

ubiquitin protein ligase E3B

Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]

Known Variants359 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7933058912:109,919,480C/T—benign
rs154389612:109,920,071G/C——
rs67260130412:109,921,357A/Gmissense variantpathogenic
rs254844898812:109,921,368G/C—likely benign
rs75767902012:109,921,380G/A—likely benign
rs254844905312:109,921,381A/G—uncertain significance
rs104365243612:109,921,386A/G—likely benign
rs14152835112:109,921,395C/T—likely benign
rs77172281912:109,921,396G/A—uncertain significance
rs55695157512:109,921,405C/T—uncertain significance
rs115853450912:109,921,414C/T—pathogenic
rs77598155312:109,921,417G/Tstop gainedpathogenic
rs76522497312:109,921,441C/T—uncertain significance
rs37260491612:109,921,442G/A—uncertain significance
rs13917220812:109,921,448G/A—uncertain significance
rs20011405312:109,921,468G/T—uncertain significance
rs20162086012:109,921,478G/A—likely benign
rs14995316812:109,921,492C/T—uncertain significance
rs76816270512:109,921,499G/A—uncertain significance
rs124662689512:109,921,512T/G—uncertain significance
rs77089894812:109,921,514T/C—uncertain significance
rs52809553112:109,921,530A/T—likely benign
rs76529491012:109,921,535C/T—likely benign
rs78064971212:109,921,658T/C—likely benign
rs77422922612:109,921,680A/G—uncertain significance
rs14353676312:109,921,693A/T—likely benign
rs20096463712:109,921,709A/G—uncertain significance
rs254845095212:109,921,712A/G—uncertain significance
rs11398784112:109,921,723A/C—benign
rs136433217112:109,921,724C/T—uncertain significance
rs254845109912:109,921,742G/T—uncertain significance
rs254845114912:109,921,756G/A—likely benign
rs20139896912:109,921,766A/C—likely benign
rs142264987712:109,921,793C/A—likely benign
rs19152371712:109,923,803G/A—likely benign
rs14060348212:109,923,822T/G—likely benign
rs124455308212:109,923,828G/T—uncertain significance
rs76691297912:109,923,835C/T—uncertain significance
rs76781460112:109,923,854T/C—uncertain significance
rs254846005012:109,923,861T/C—likely benign
rs36933199812:109,923,870G/A—likely benign
rs75585679412:109,923,872C/T—uncertain significance
rs91817005412:109,924,275G/A—pathogenic
rs159288226512:109,924,284T/G—pathogenic
rs254846246812:109,924,291C/T—likely benign
rs74681126312:109,924,298G/A—uncertain significance
rs187645382412:109,924,308C/T—likely benign
rs15108456712:109,924,309C/T—uncertain significance
rs146070966412:109,924,313C/G—uncertain significance
rs139130337312:109,924,334T/A—uncertain significance
rs14106351712:109,924,352A/G—benign
rs15024998512:109,924,374G/A—likely benign
rs56523135312:109,924,375C/T—uncertain significance
rs18536164112:109,924,385C/A—benign
rs36978391912:109,926,360G/A—likely benign
rs14709685012:109,926,362G/A—benign
rs187689925112:109,926,367T/C—likely benign
rs37371794412:109,926,398C/T—pathogenic
rs254847161712:109,926,407A/G—uncertain significance
rs74703312512:109,926,421G/A—likely benign
rs13800141212:109,926,422A/T—uncertain significance
rs119893202912:109,926,447C/A—pathogenic
rs74897173612:109,926,449A/G—likely benign
rs6173992212:109,926,451G/A—likely benign
rs20009599812:109,926,464C/T—uncertain significance
rs20169206912:109,926,465G/A—uncertain significance
rs39812302212:109,927,722A/G—pathogenic
rs76387481412:109,927,730G/C—uncertain significance
rs156607800912:109,927,735C/T—pathogenic
rs254847698612:109,927,753A/G—uncertain significance
rs254847704312:109,927,764T/C—likely benign
rs121410018112:109,927,788T/C—likely benign
rs187716191612:109,927,801G/A—uncertain significance
rs11253077612:109,927,806G/C—benign
rs213583211512:109,927,810G/T—likely pathogenic
rs7319626812:109,927,827C/A—benign
rs20124374512:109,927,828C/G—likely benign
rs76420258312:109,928,360C/T—likely benign
rs143227791312:109,928,375G/A—likely benign
rs75121890112:109,928,842C/G—likely benign
rs14186153012:109,928,863G/A—uncertain significance
rs254848327612:109,928,887G/T—uncertain significance
rs130456624612:109,928,889C/G—uncertain significance
rs137558132912:109,928,900C/G—likely benign
rs77989805212:109,928,925G/A—uncertain significance
rs75469053612:109,928,926C/T—uncertain significance
rs118684058112:109,928,940A/G—likely benign
rs155526367912:109,928,944A/G—likely benign
rs75715051212:109,935,632T/C—likely benign
rs13869127512:109,935,635T/C—likely benign
rs75036003212:109,935,639C/T—pathogenic
rs20036204812:109,935,660C/T—uncertain significance
rs254849818012:109,935,669C/T—uncertain significance
rs14801143712:109,935,716A/G—benign
rs254849837512:109,935,730T/G—likely pathogenic
rs53800940212:109,936,019G/A—likely benign
rs77915296912:109,936,020G/A—likely benign
rs11160981512:109,936,024A/G—benign
rs37235229812:109,936,039G/A—uncertain significance
rs6174806912:109,936,056C/T—benign

Showing 100 of 359 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.