NECTIN4

nectin cell adhesion molecule 4

Summary

This gene encodes a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011]

Known Variants67 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5770010421:161,042,483T/C—uncertain significance
rs7469172741:161,042,484G/T—likely benign
rs1413892741:161,042,493C/T—likely benign
rs5735118291:161,042,494G/A—uncertain significance
rs7532983971:161,042,506C/G—uncertain significance
rs1446431551:161,042,515C/A—uncertain significance
rs1494019011:161,042,519T/C—uncertain significance
rs1425792181:161,042,597G/C—uncertain significance
rs1395943651:161,042,631C/T—benign
rs5274492221:161,042,637G/A—benign
rs2004937821:161,042,643C/T—likely benign
rs1415135671:161,042,646G/A—benign
rs15370441:161,042,657G/A—conflicting classifications of pathogenicity
rs12646674961:161,043,017T/C—uncertain significance
rs16532607581:161,043,054G/A—likely benign
rs7664288451:161,043,060C/T—likely benign
rs1495468451:161,043,063G/A—likely benign
rs7641951151:161,043,083C/T—uncertain significance
rs771190661:161,043,087C/T—benign
rs7755818331:161,043,106C/T—likely benign
rs7714428261:161,043,509C/T—likely pathogenic
rs1430847951:161,043,564G/C—likely benign
rs1812265821:161,044,035G/A—uncertain significance
rs5773785751:161,044,096G/A—likely benign
rs412700031:161,044,179C/T—benign
rs412700071:161,044,383T/C—benign
rs3773938111:161,044,402A/G—uncertain significance
rs25247424281:161,044,417G/A—likely benign
rs16533295311:161,044,430C/G—uncertain significance
rs16533319841:161,044,470C/T—uncertain significance
rs1474099771:161,044,471G/A—likely benign
rs3734094751:161,044,518C/T—uncertain significance
rs16533353011:161,044,521G/A—pathogenic
rs1510080731:161,044,549C/A—likely benign
rs2676069911:161,046,145C/Tmissense variantpathogenic
rs25247483901:161,046,187C/T—uncertain significance
rs7548821191:161,046,278G/A—likely benign
rs10853071241:161,047,249C/Tmissense variantpathogenic
rs3777659371:161,047,307A/G—likely benign
rs3879070141:161,047,338G/Cmissense variantpathogenic
rs745950291:161,047,358G/A—benign
rs25247541601:161,047,359G/A—uncertain significance
rs14233512781:161,047,364G/C—likely benign
rs7525050991:161,047,375G/T—uncertain significance
rs21016634081:161,047,398G/A—uncertain significance
rs2676069921:161,047,419G/Amissense variantpathogenic
rs7562052011:161,047,421G/A—likely benign
rs7612658531:161,047,526G/A—likely benign
rs774441041:161,049,383T/G—benign
rs14870959811:161,049,387T/C—likely benign
rs3705786231:161,049,395G/T—likely benign
rs7472620751:161,049,438G/A—likely benign
rs781056571:161,049,499G/A—likely benign
rs354343911:161,049,509T/G—benign
rs10538471111:161,049,534C/T—likely benign
rs1998735601:161,049,552A/G—likely benign
rs5561018741:161,049,564T/G—uncertain significance
rs7750222261:161,049,587C/G—uncertain significance
rs15711530521:161,049,590G/A—pathogenic
rs10853071251:161,049,638G/Astop gainedpathogenic
rs1404883891:161,049,651C/T—benign
rs37377861:161,049,662A/G—benign
rs7540406141:161,049,726C/T—likely benign
rs5638181961:161,056,218T/C——
rs1999763591:161,059,065C/T—uncertain significance
rs3771468251:161,059,066G/A—likely benign
rs1161605181:161,060,021T/Cupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.