CDH11

cadherin 11

Summary

This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. [provided by RefSeq, Jul 2008]

Known Variants99 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37626966716:64,981,498C/G—likely benign
rs14642808016:64,981,499G/A—likely benign
rs147173298316:64,981,514C/T—uncertain significance
rs37722271316:64,981,515G/A—likely benign
rs96082273816:64,981,523A/G—uncertain significance
rs250699253316:64,981,601C/T—uncertain significance
rs14584321916:64,981,668G/A—likely benign
rs14900415216:64,981,710G/T—uncertain significance
rs77866032716:64,981,745C/T—uncertain significance
rs20076612716:64,981,764C/T—likely benign
rs3514597816:64,981,824G/C—likely benign
rs77660927216:64,981,873G/C—uncertain significance
rs250699406916:64,981,895C/T—uncertain significance
rs133360965016:64,981,928G/A—uncertain significance
rs20105979316:64,981,952T/C—uncertain significance
rs57145706416:64,982,505G/C—likely benign
rs55455051616:64,982,509T/C—likely benign
rs75179646416:64,982,563T/C—uncertain significance
rs207126312516:64,982,601T/A—likely pathogenic
rs127513419416:64,984,683G/C—uncertain significance
rs56095303416:64,984,712C/T—uncertain significance
rs37427444116:64,984,778C/A—uncertain significance
rs250700695216:64,984,790C/T—uncertain significance
rs77328702716:64,984,804G/C—uncertain significance
rs207134506416:64,984,840C/A—uncertain significance
rs20153469416:64,984,862A/G—likely benign
rs14703376416:64,984,898G/A—uncertain significance
rs74706475816:64,984,900G/A—likely benign
rs1259752916:65,005,462G/A—benign
rs117779385116:65,005,485G/A—likely pathogenic
rs77281599316:65,005,560C/A—uncertain significance
rs20040489716:65,005,561C/T—benign
rs14654912516:65,005,912G/A—likely benign
rs8013897116:65,005,926C/T—likely benign
rs14802462416:65,005,928C/T—uncertain significance
rs14106332516:65,005,934G/A—likely benign
rs250678823016:65,005,949G/A—uncertain significance
rs37024328016:65,005,961C/T—uncertain significance
rs77288114016:65,006,807G/A—uncertain significance
rs19951983816:65,006,831T/A—likely benign
rs103297625616:65,006,846T/C—uncertain significance
rs36864200516:65,006,869G/A—uncertain significance
rs14595520616:65,006,898A/C—uncertain significance
rs207205400716:65,006,900T/C—uncertain significance
rs93479796016:65,006,927G/C—uncertain significance
rs1259717516:65,007,966T/Cintron variant—
rs3521416:65,015,908C/G—benign
rs13986945816:65,015,956C/T—likely benign
rs20023404916:65,015,957G/A—likely benign
rs214245902816:65,016,027G/A—uncertain significance
rs214245967016:65,016,083A/T—pathogenic
rs3521316:65,016,087A/C—benign
rs20129529416:65,016,151G/A—likely benign
rs7618168616:65,016,165C/G—benign
rs155551533116:65,022,059C/A—pathogenic
rs214248069916:65,022,080C/A—pathogenic
rs74951493016:65,022,098C/A—uncertain significance
rs2821616:65,022,114C/T—benign
rs20111079416:65,022,127T/C—likely benign
rs250685124116:65,022,155A/T—uncertain significance
rs5585454716:65,022,156G/A—likely benign
rs214248127516:65,022,224C/G—pathogenic
rs113082116:65,022,234C/T—benign
rs3519616:65,025,658T/C—benign
rs100029476616:65,025,702A/T—pathogenic
rs214249211816:65,025,704C/T—pathogenic
rs3519516:65,025,718G/A—benign
rs97065841516:65,025,779C/T—uncertain significance
rs155551592416:65,025,786G/C—pathogenic
rs207263746716:65,025,787T/A—uncertain significance
rs14808304816:65,025,800C/A—uncertain significance
rs250686490016:65,025,843A/C—uncertain significance
rs3519416:65,025,849A/G—benign
rs5961463416:65,029,943A/C——
rs75691041216:65,032,461G/A—likely benign
rs76047095316:65,032,579G/A—uncertain significance
rs121688591016:65,032,597C/T—uncertain significance
rs250689278116:65,032,629T/A—uncertain significance
rs250689333216:65,032,759G/A—likely pathogenic
rs3518816:65,035,020G/C——
rs87898904216:65,038,575G/A—likely benign
rs214252870916:65,038,609C/G—pathogenic
rs76756716716:65,038,640C/T—uncertain significance
rs20177623616:65,038,670A/G—uncertain significance
rs75714217116:65,038,678C/T—likely benign
rs230376516:65,038,679G/A—uncertain significance
rs230376616:65,038,686C/T—likely benign
rs52745151316:65,038,690C/T—uncertain significance
rs77964844216:65,038,691G/A—uncertain significance
rs25733616:65,055,840G/A——
rs496788216:65,063,262C/A——
rs1244720116:65,067,443C/Tintron variant—
rs1292017416:65,071,826C/G——
rs7498495716:65,073,799G/Aintron variant—
rs7496521716:65,076,238A/Gintron variant—
rs187445816:65,080,739G/T——
rs1293513816:65,115,210G/Aintron variant—
rs3570970716:65,121,952A/Gintron variant—
rs718737616:65,136,495T/Cintron variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.