CELSR2

cadherin EGF LAG seven-pass G-type receptor 2

Summary

The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]

Known Variants444 total

rsidPosition (GRCh37)AllelesClassClinVar
rs12119673521:109,792,705C/T—uncertain significance
rs2002772651:109,792,751T/C—likely benign
rs7526991151:109,792,772T/A—uncertain significance
rs5776202091:109,792,776G/A—likely benign
rs2013728951:109,792,784C/T—conflicting classifications of pathogenicity
rs14834436291:109,792,801G/A—uncertain significance
rs12491081841:109,792,809C/T—likely benign
rs7471512111:109,792,826C/A—uncertain significance
rs7500980941:109,792,865G/T—uncertain significance
rs7471175961:109,792,900C/T—uncertain significance
rs1129837441:109,792,973G/A—benign
rs1427462891:109,793,034T/C—benign
rs626237081:109,793,077C/A—likely benign
rs13583007811:109,793,096C/T—uncertain significance
rs741138011:109,793,128C/T—benign
rs1137077131:109,793,163C/T—likely benign
rs7586007731:109,793,176G/A—uncertain significance
rs1134090731:109,793,182A/C—benign
rs7778398081:109,793,191G/C—uncertain significance
rs25264169701:109,793,200C/G—uncertain significance
rs16556585981:109,793,235C/T—likely benign
rs2010310071:109,793,273C/T—uncertain significance
rs7572861691:109,793,288C/G—uncertain significance
rs412797001:109,793,319C/T—benign
rs1479862741:109,793,433C/T—likely benign
rs7679577341:109,793,446C/T—uncertain significance
rs1385163761:109,793,453C/T—uncertain significance
rs1472976681:109,793,480C/T—uncertain significance
rs2000880031:109,793,499G/C—likely benign
rs25264182921:109,793,500C/G—uncertain significance
rs1447141131:109,793,540C/T—uncertain significance
rs21012296441:109,793,576A/G—uncertain significance
rs1399712941:109,793,604C/T—benign
rs25264187511:109,793,638G/T—uncertain significance
rs7498477731:109,793,710T/C—uncertain significance
rs7688131761:109,793,711C/A—uncertain significance
rs7483206821:109,793,734C/T—uncertain significance
rs11776732151:109,793,771G/A—uncertain significance
rs7482477601:109,793,809A/G—uncertain significance
rs3676870721:109,793,822G/A—uncertain significance
rs7697342691:109,793,838G/C—likely benign
rs1493114671:109,793,851G/T—benign
rs2004473971:109,793,894A/G—uncertain significance
rs3735662311:109,793,960G/A—uncertain significance
rs7601194541:109,793,998G/A—uncertain significance
rs14873370101:109,794,008A/G—uncertain significance
rs7491863251:109,794,031C/T—uncertain significance
rs3726376281:109,794,118C/T—uncertain significance
rs412797041:109,794,123G/C—benign
rs1399901941:109,794,217G/A—uncertain significance
rs1445877881:109,794,221G/C—uncertain significance
rs13192203861:109,794,244C/T—likely benign
rs4541071:109,794,252T/C—benign
rs25264214941:109,794,254T/A—uncertain significance
rs3683105391:109,794,276C/T—benign
rs7606430731:109,794,289A/G—uncertain significance
rs1445527941:109,794,311A/G—conflicting classifications of pathogenicity
rs1389194681:109,794,316C/T—likely benign
rs1128579651:109,794,321G/A—benign
rs7454663341:109,794,331C/T—uncertain significance
rs1995442391:109,794,352T/C—uncertain significance
rs25264219671:109,794,384G/C—uncertain significance
rs2003043911:109,794,437G/C—likely benign
rs1150307391:109,794,455A/G—benign
rs1440136571:109,794,479C/T—uncertain significance
rs1176849561:109,794,493G/A—benign
rs2005428781:109,794,497C/G—uncertain significance
rs3677933671:109,794,513C/T—likely benign
rs14074018911:109,794,514G/A—uncertain significance
rs3722545101:109,794,542A/G—uncertain significance
rs412797061:109,794,593C/T—likely benign
rs11568353681:109,794,642C/G—uncertain significance
rs7591061741:109,794,646A/C—uncertain significance
rs12177957451:109,794,664C/T—uncertain significance
rs15707748211:109,794,677C/T—uncertain significance
rs7493621801:109,794,700G/A—uncertain significance
rs7686617441:109,794,702A/G—likely benign
rs7483429361:109,794,731T/G—uncertain significance
rs3773055241:109,794,771C/T—likely benign
rs25264232271:109,794,784A/G—uncertain significance
rs1174691741:109,794,785C/T—benign
rs3695712701:109,794,786G/A—likely benign
rs7806795991:109,794,790C/G—uncertain significance
rs9974226931:109,794,811G/A—uncertain significance
rs14399416651:109,794,874C/T—uncertain significance
rs7636387401:109,794,879G/A—likely benign
rs1471609241:109,794,891G/A—benign
rs2021758931:109,794,938G/A—uncertain significance
rs1403343171:109,794,982G/A—uncertain significance
rs3741556921:109,794,984T/C—likely benign
rs7641799771:109,794,989A/C—uncertain significance
rs4133801:109,795,026T/C—benign
rs1498904691:109,795,071T/C—likely benign
rs1420703121:109,795,080C/T—benign
rs10647971161:109,795,082A/G—uncertain significance
rs3693556031:109,795,089C/T—likely benign
rs1429870281:109,795,119C/T—likely benign
rs3761190811:109,795,123G/A—uncertain significance
rs9916463981:109,795,187C/T—uncertain significance
rs11569384041:109,795,190C/T—uncertain significance

Showing 100 of 444 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.