ADAM11

ADAM metallopeptidase domain 11

Summary

This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

Known Variants47 total

rsidPosition (GRCh37)AllelesClassClinVar
rs479314617:42,836,113A/Cregulatory region variant—
rs95640218317:42,836,588G/C—uncertain significance
rs123141094717:42,836,619C/T—uncertain significance
rs53165902217:42,837,113G/A—uncertain significance
rs55006353117:42,837,128G/C—likely benign
rs37199823017:42,837,131G/T—uncertain significance
rs6263662917:42,837,133C/T—benign
rs36962036017:42,837,243G/A—uncertain significance
rs14579616217:42,842,113T/Cintron variant—
rs5872606417:42,847,033C/T——
rs37176156917:42,847,113G/A—uncertain significance
rs76996071417:42,847,390C/T—uncertain significance
rs20044081517:42,848,984G/T—uncertain significance
rs77647623117:42,849,012G/A—uncertain significance
rs102560968617:42,849,155A/G—uncertain significance
rs74676497217:42,849,189G/A—likely benign
rs20083780517:42,849,645C/T—uncertain significance
rs55116964417:42,849,659C/T—uncertain significance
rs37580426617:42,849,663C/T—uncertain significance
rs76108299017:42,849,686G/A—uncertain significance
rs19956490717:42,849,796G/T—uncertain significance
rs75023654317:42,849,809G/C—uncertain significance
rs102054041917:42,850,654G/A—uncertain significance
rs37461096417:42,850,659G/A—uncertain significance
rs77419564517:42,850,671A/G—uncertain significance
rs36825457817:42,850,676A/G—likely benign
rs204955328917:42,850,711A/G—uncertain significance
rs14916147617:42,850,734C/T—uncertain significance
rs76327079917:42,850,735G/A—uncertain significance
rs92212327717:42,850,740A/G—uncertain significance
rs479314917:42,851,171A/Gintron variant—
rs77869065817:42,852,078G/A—uncertain significance
rs74748852317:42,854,277A/C—uncertain significance
rs75133302817:42,854,303C/T—uncertain significance
rs77511451417:42,854,304G/A—uncertain significance
rs250915998617:42,854,315G/A—uncertain significance
rs75561378417:42,854,328A/G—uncertain significance
rs36921213117:42,854,534C/T—uncertain significance
rs128512139517:42,854,893G/A—uncertain significance
rs13962218817:42,855,130C/T—uncertain significance
rs75492234517:42,855,196G/A—uncertain significance
rs77856630417:42,855,209G/A—uncertain significance
rs250916526917:42,855,350C/G—uncertain significance
rs204962852717:42,855,358C/G—uncertain significance
rs37460851417:42,855,399C/T—uncertain significance
rs76525921917:42,855,402C/T—uncertain significance
rs214524637017:42,855,414G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.