ADAM19
ADAM metallopeptidase domain 19
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 biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013]
Known Variants89 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150644318 | 5:156,907,976 | A/G | — | uncertain significance |
| rs11134767 | 5:156,908,653 | C/T | intron variant | — |
| rs1449369421 | 5:156,908,801 | T/C | — | uncertain significance |
| rs542908072 | 5:156,908,824 | C/T | — | likely benign |
| rs34145949 | 5:156,908,825 | G/A | — | uncertain significance |
| rs147465765 | 5:156,908,855 | G/A | — | uncertain significance |
| rs778722685 | 5:156,908,858 | G/T | — | uncertain significance |
| rs774730214 | 5:156,908,894 | G/A | — | uncertain significance |
| rs556999973 | 5:156,908,935 | C/T | — | uncertain significance |
| rs863223367 | 5:156,908,939 | G/A | — | benign |
| rs1427885376 | 5:156,908,942 | T/C | — | uncertain significance |
| rs11466804 | 5:156,915,297 | G/A | — | benign |
| rs1755018629 | 5:156,915,308 | G/A | — | uncertain significance |
| rs1190633013 | 5:156,915,310 | C/T | — | uncertain significance |
| rs11466803 | 5:156,915,323 | G/C | — | benign |
| rs149265280 | 5:156,915,340 | G/A | — | uncertain significance |
| rs769260440 | 5:156,915,383 | C/T | — | likely benign |
| rs11466802 | 5:156,915,410 | C/T | — | benign |
| rs1755025687 | 5:156,915,415 | G/A | — | uncertain significance |
| rs138014472 | 5:156,915,448 | C/T | — | uncertain significance |
| rs574929918 | 5:156,915,449 | G/A | — | uncertain significance |
| rs781236416 | 5:156,915,472 | C/T | — | uncertain significance |
| rs753240297 | 5:156,915,487 | G/A | — | uncertain significance |
| rs2532947887 | 5:156,916,156 | T/A | — | uncertain significance |
| rs13155908 | 5:156,916,589 | A/T | — | — |
| rs1398708772 | 5:156,917,412 | C/T | — | uncertain significance |
| rs754714612 | 5:156,917,421 | C/T | — | uncertain significance |
| rs34882961 | 5:156,918,638 | G/A | — | benign |
| rs200883455 | 5:156,918,840 | C/T | — | benign |
| rs778063164 | 5:156,918,871 | C/G | — | uncertain significance |
| rs764203673 | 5:156,920,073 | G/A | — | uncertain significance |
| rs777419913 | 5:156,920,126 | T/C | — | uncertain significance |
| rs529559129 | 5:156,920,141 | C/T | — | uncertain significance |
| rs756876568 | 5:156,921,698 | A/C | — | uncertain significance |
| rs1755298429 | 5:156,921,707 | T/A | — | uncertain significance |
| rs2532964023 | 5:156,921,724 | C/A | — | uncertain significance |
| rs1374820572 | 5:156,921,783 | G/A | — | uncertain significance |
| rs11466782 | 5:156,921,955 | A/C | — | — |
| rs774391030 | 5:156,923,982 | G/A | — | uncertain significance |
| rs761824631 | 5:156,924,007 | T/C | — | uncertain significance |
| rs114344861 | 5:156,926,605 | A/G | — | likely benign |
| rs138848276 | 5:156,926,606 | T/C | missense variant | — |
| rs147064466 | 5:156,926,624 | G/A | — | uncertain significance |
| rs12522418 | 5:156,926,777 | A/T | — | — |
| rs377128095 | 5:156,929,869 | C/T | — | uncertain significance |
| rs2277027 | 5:156,932,376 | A/C | intron variant | — |
| rs561620579 | 5:156,932,610 | C/A | — | uncertain significance |
| rs1755720987 | 5:156,932,726 | A/G | — | uncertain significance |
| rs569940826 | 5:156,932,792 | C/T | — | uncertain significance |
| rs376037302 | 5:156,932,800 | G/A | — | uncertain significance |
| rs1283134328 | 5:156,934,110 | G/C | — | uncertain significance |
| rs146355862 | 5:156,934,111 | G/A | — | uncertain significance |
| rs1400522936 | 5:156,934,132 | C/T | — | uncertain significance |
| rs577256277 | 5:156,934,144 | T/C | — | uncertain significance |
| rs11466769 | 5:156,934,155 | G/T | — | benign |
| rs7728609 | 5:156,935,524 | C/T | intron variant | — |
| rs1422795 | 5:156,936,364 | T/C | missense variant | — |
| rs777190190 | 5:156,936,420 | T/C | — | uncertain significance |
| rs377464157 | 5:156,940,458 | G/A | — | uncertain significance |
| rs1238454002 | 5:156,940,479 | T/C | — | uncertain significance |
| rs528322317 | 5:156,942,276 | C/T | — | — |
| rs11740562 | 5:156,942,285 | A/G | intron variant | — |
| rs11134789 | 5:156,944,199 | C/A | regulatory region variant | — |
| rs58873874 | 5:156,945,148 | T/C | intron variant | — |
| rs144540269 | 5:156,945,874 | G/A | — | uncertain significance |
| rs780694440 | 5:156,946,899 | G/A | — | uncertain significance |
| rs376577956 | 5:156,946,915 | G/A | — | uncertain significance |
| rs199763273 | 5:156,946,919 | G/C | — | uncertain significance |
| rs376419578 | 5:156,946,999 | C/T | — | uncertain significance |
| rs773390573 | 5:156,947,028 | G/T | — | uncertain significance |
| rs7721142 | 5:156,952,408 | C/G | intron variant | — |
| rs55745041 | 5:156,957,239 | A/C | — | — |
| rs952947999 | 5:156,957,869 | G/A | — | uncertain significance |
| rs1023266655 | 5:156,964,931 | C/T | — | uncertain significance |
| rs759414753 | 5:156,964,932 | G/A | — | uncertain significance |
| rs11134804 | 5:156,964,944 | G/C | — | benign |
| rs2533076397 | 5:156,965,189 | G/T | — | uncertain significance |
| rs1756817337 | 5:156,965,192 | A/C | — | uncertain significance |
| rs6879838 | 5:156,966,567 | T/C | — | — |
| rs77372450 | 5:156,970,144 | A/G | — | — |
| rs2533140395 | 5:156,991,057 | A/C | — | uncertain significance |
| rs201342830 | 5:156,991,430 | T/C | — | uncertain significance |
| rs61753548 | 5:156,991,445 | G/A | — | likely benign |
| rs11465254 | 5:156,994,031 | C/T | intron variant | — |
| rs2479899481 | 5:156,997,244 | T/G | — | uncertain significance |
| rs371085211 | 5:156,997,955 | T/C | — | uncertain significance |
| rs768487747 | 5:156,997,964 | T/C | — | uncertain significance |
| rs2479916001 | 5:157,002,637 | C/T | — | uncertain significance |
| rs2479916508 | 5:157,002,682 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.