RANBP2

RAN binding protein 2

Summary

RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex. The protein is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. The encoded protein directly interacts with the E2 enzyme UBC9 and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100. These findings place sumoylation at the cytoplasmic filaments of the nuclear pore complex and suggest that, for some substrates, modification and nuclear import are linked events. This gene is partially duplicated in a gene cluster that lies in a hot spot for recombination on chromosome 2q. [provided by RefSeq, Jul 2008]

Known Variants957 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3771406082:109,336,013C/T—likely benign
rs793790022:109,336,018C/T—benign
rs3723733982:109,336,022G/T—likely benign
rs16940426792:109,336,064T/A—uncertain significance
rs2018867462:109,336,082A/C—uncertain significance
rs16940492532:109,336,114T/C—uncertain significance
rs1134472802:109,336,145C/G—benign
rs29128572:109,336,681T/Gregulatory region variant—
rs2014855972:109,345,582T/A—likely benign
rs14702435012:109,345,587G/T—uncertain significance
rs5762517472:109,345,588A/G—uncertain significance
rs11818478942:109,345,595T/C—uncertain significance
rs12500351782:109,345,598A/G—uncertain significance
rs3749975772:109,345,607A/G—uncertain significance
rs7510861622:109,345,643A/T—uncertain significance
rs7554282752:109,345,664A/T—likely benign
rs7800172802:109,347,232A/T—uncertain significance
rs13897063122:109,347,240A/G—uncertain significance
rs14601316902:109,347,245C/T—likely benign
rs7717087712:109,347,262G/T—uncertain significance
rs3755594972:109,347,271A/G—uncertain significance
rs16951108052:109,347,279A/G—uncertain significance
rs16951124032:109,347,306G/A—uncertain significance
rs1442787952:109,347,314C/T—likely benign
rs1407853812:109,347,327G/A—likely benign
rs7664919182:109,347,799A/G—uncertain significance
rs7550022972:109,347,813T/G—likely benign
rs21491076282:109,347,819G/A—likely benign
rs7787999232:109,347,822G/T—uncertain significance
rs16951569142:109,347,834G/T—uncertain significance
rs3751991742:109,347,849T/C—likely benign
rs24672906242:109,347,860G/A—uncertain significance
rs1406505692:109,347,867A/T—likely benign
rs7453532292:109,347,869A/G—uncertain significance
rs13869589152:109,347,881A/G—uncertain significance
rs2017821682:109,347,891C/A—likely benign
rs7539986622:109,347,899T/G—uncertain significance
rs8265262:109,347,947T/G—benign
rs16955054842:109,351,986A/G—uncertain significance
rs24673333382:109,351,998T/C—uncertain significance
rs9153404302:109,352,014A/G—uncertain significance
rs24673336322:109,352,034T/C—uncertain significance
rs15737153502:109,352,049C/G—uncertain significance
rs15737153642:109,352,050A/G—likely benign
rs1422175042:109,352,074C/T—likely benign
rs14432207962:109,352,089C/G—uncertain significance
rs7712228852:109,352,101G/T—uncertain significance
rs10451116732:109,352,102G/T—uncertain significance
rs5438449172:109,352,108C/T—uncertain significance
rs7700032532:109,352,109G/A—uncertain significance
rs9395170142:109,352,123T/C—likely benign
rs12319154442:109,352,124T/G—uncertain significance
rs1464605802:109,352,125G/A—likely benign
rs26931222:109,352,142A/G—conflicting classifications of pathogenicity
rs7617580222:109,352,143C/T—likely benign
rs7577185192:109,352,175G/A—conflicting classifications of pathogenicity
rs25579242:109,352,188A/G—likely benign
rs21491287912:109,352,193A/G—uncertain significance
rs9946264232:109,352,194T/G—uncertain significance
rs12233100522:109,352,197G/A—likely benign
rs14531979202:109,352,209G/A—likely benign
rs7744295342:109,352,212C/T—likely benign
rs14073549332:109,352,234T/C—likely benign
rs8265772:109,352,542G/A—benign
rs21491307592:109,352,558A/G—uncertain significance
rs7606406642:109,352,572T/C—uncertain significance
rs16955630522:109,352,596A/G—uncertain significance
rs21491309402:109,352,601T/G—uncertain significance
rs16955644962:109,352,608C/T—uncertain significance
rs1481496402:109,352,625C/G—uncertain significance
rs14050422312:109,352,638T/A—uncertain significance
rs1391518702:109,352,651T/C—benign
rs3747818992:109,352,655T/G—likely benign
rs7709864822:109,352,660C/G—uncertain significance
rs11792003052:109,352,662C/T—uncertain significance
rs3722628302:109,352,668A/G—uncertain significance
rs7693687052:109,352,669C/T—uncertain significance
rs13969593112:109,352,677G/A—uncertain significance
rs3747911052:109,352,690G/T—uncertain significance
rs7612402462:109,352,694A/T—uncertain significance
rs16955768982:109,352,698C/G—uncertain significance
rs14559463392:109,356,938A/G—likely benign
rs1385400272:109,356,939T/C—conflicting classifications of pathogenicity
rs763523452:109,356,978G/C—benign
rs1996527212:109,356,996G/A—likely benign
rs5427323112:109,357,033A/G—uncertain significance
rs3695856282:109,357,035G/A—uncertain significance
rs5652254812:109,357,079A/G—uncertain significance
rs7656484802:109,357,091G/A—uncertain significance
rs7633749922:109,357,093G/A—uncertain significance
rs7504674782:109,357,113A/G—likely benign
rs15534852682:109,357,129G/C—uncertain significance
rs16960125842:109,357,132T/C—uncertain significance
rs5476481552:109,357,136A/G—uncertain significance
rs7524759892:109,363,192T/G—uncertain significance
rs7581169952:109,363,194A/G—uncertain significance
rs16965496432:109,363,214T/C—likely benign
rs12520354672:109,363,234G/T—uncertain significance
rs24674577762:109,363,240G/A—uncertain significance
rs14679312492:109,363,257A/G—uncertain significance

Showing 100 of 957 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.