ADAM17

ADAM metallopeptidase domain 17

Summary

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic 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. The encoded protease functions in the ectodomain shedding of tumor necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the membrane-bound precursor. This protease also functions in the processing of numerous other substrates, including cell adhesion proteins, cytokine and growth factor receptors and epidermal growth factor (EGF) receptor ligands, and plays a prominent role in the activation of the Notch signaling pathway. Elevated expression of this gene has been observed in specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohn's disease patients, suggesting that the encoded protein may play a role in autoimmune disease. Additionally, this protease may play a role in viral infection through its cleavage of ACE2, the cellular receptor for SARS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2020]

Known Variants443 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11300942:9,630,016T/C—benign
rs67054082:9,630,231C/T—benign
rs1423153652:9,630,329C/G—uncertain significance
rs7527307642:9,630,335G/A—uncertain significance
rs21249476052:9,630,337T/C—uncertain significance
rs7607576022:9,630,343C/T—uncertain significance
rs7640504762:9,630,344G/A—uncertain significance
rs21249477592:9,630,356A/G—uncertain significance
rs7613913732:9,630,365C/G—uncertain significance
rs10087749912:9,630,370T/C—uncertain significance
rs25310539222:9,630,376C/G—uncertain significance
rs7808506542:9,630,383C/A—uncertain significance
rs13343747782:9,630,384C/T—likely benign
rs7476458702:9,630,385G/A—uncertain significance
rs12280037882:9,630,392C/A—uncertain significance
rs1493610492:9,630,393C/T—likely benign
rs16620138532:9,630,398G/C—uncertain significance
rs7498602912:9,630,401C/T—uncertain significance
rs21249481132:9,630,423G/A—likely benign
rs2013605042:9,630,435G/A—benign
rs7642937302:9,630,455C/T—uncertain significance
rs7538590982:9,630,461C/T—uncertain significance
rs3762412602:9,630,462G/A—likely benign
rs16620226232:9,630,473A/G—uncertain significance
rs7513813922:9,630,481C/T—uncertain significance
rs21249485042:9,630,493T/C—uncertain significance
rs15584897202:9,630,497T/A—uncertain significance
rs3710185402:9,630,501G/A—likely benign
rs25310566102:9,630,513G/C—uncertain significance
rs21249487132:9,630,525T/G—likely benign
rs7726160912:9,630,530C/G—uncertain significance
rs3746242302:9,630,533C/T—uncertain significance
rs9456198892:9,630,537C/T—likely benign
rs799320152:9,630,538G/A—likely benign
rs7610259712:9,630,539C/A—uncertain significance
rs3764564302:9,630,540C/T—likely benign
rs557967122:9,630,541G/A—likely benign
rs12678011862:9,630,554G/C—uncertain significance
rs7618369492:9,630,557C/T—uncertain significance
rs2002683372:9,630,558A/G—likely benign
rs5388658262:9,630,568C/T—uncertain significance
rs3700647832:9,630,569G/A—uncertain significance
rs3743903692:9,630,576A/C—likely benign
rs1480930442:9,630,582G/C—benign
rs7464363102:9,630,585C/T—likely benign
rs1814630782:9,630,586G/A—uncertain significance
rs8890629882:9,630,590G/C—uncertain significance
rs3721893092:9,630,593A/G—uncertain significance
rs1472755852:9,630,607C/T—uncertain significance
rs10167569842:9,630,612C/G—likely benign
rs1447212352:9,630,613G/A—uncertain significance
rs9612266472:9,630,615T/C—likely benign
rs7672875112:9,630,642G/A—likely benign
rs7753680082:9,630,645G/A—likely benign
rs797154352:9,630,658A/G—likely benign
rs11842051172:9,630,659T/C—likely benign
rs1142559852:9,630,661G/A—benign
rs1477227752:9,630,758C/Tdownstream gene variant—
rs3771637692:9,631,217A/G—likely benign
rs21249520252:9,631,221T/C—likely benign
rs9037007402:9,631,222A/G—likely benign
rs7606277442:9,631,223T/C—likely benign
rs7683836452:9,631,236G/A—likely benign
rs25310680112:9,631,241A/G—uncertain significance
rs10383885372:9,631,242C/G—likely benign
rs13401472162:9,631,257A/G—likely benign
rs16621073862:9,631,258T/C—uncertain significance
rs7658835202:9,631,266A/T—uncertain significance
rs9947012722:9,631,292C/G—likely benign
rs104955622:9,631,340T/C—benign
rs558559162:9,632,802T/C—benign
rs739131162:9,632,975G/A—benign
rs21249599472:9,633,007C/T—likely benign
rs5325309272:9,633,015T/G—likely benign
rs10321889042:9,633,017G/A—likely benign
rs5462558642:9,633,023T/C—uncertain significance
rs3759423022:9,633,031C/T—uncertain significance
rs343556772:9,633,036G/A—likely benign
rs16622785232:9,633,060A/G—likely benign
rs14091233692:9,633,062A/G—uncertain significance
rs9104396562:9,633,066C/T—likely benign
rs7599604742:9,633,078C/T—likely benign
rs21249601522:9,633,081G/A—likely benign
rs14253763582:9,633,084A/G—likely benign
rs13049643602:9,633,090A/G—likely benign
rs617541772:9,633,092C/T—likely benign
rs12985707902:9,633,095T/C—uncertain significance
rs21249602392:9,633,099G/A—likely benign
rs7564296212:9,633,106A/G—uncertain significance
rs3692298012:9,633,114T/A—uncertain significance
rs46226922:9,633,137T/G—benign
rs3768774942:9,633,872C/A—uncertain significance
rs11859374772:9,633,877A/G—likely benign
rs1409339442:9,633,884T/C—uncertain significance
rs21249632862:9,633,886G/A—likely benign
rs25310996042:9,633,889G/A—likely benign
rs21249633172:9,633,890C/T—uncertain significance
rs16623453842:9,633,898G/A—likely benign
rs1446577952:9,633,899T/C—uncertain significance
rs25310997792:9,633,904G/T—uncertain significance

Showing 100 of 443 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.