TMPRSS2
transmembrane serine protease 2
Summary
This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. This protein also facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. Viruses found to use this protein for cell entry include Influenza virus and the human coronaviruses HCoV-229E, MERS-CoV, SARS-CoV and SARS-CoV-2 (COVID-19 virus). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2020]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2146419693 | 21:42,839,699 | C/T | — | uncertain significance |
| rs2517121692 | 21:42,840,393 | A/T | — | uncertain significance |
| rs2070788 | 21:42,841,988 | G/A | intron variant | — |
| rs61735795 | 21:42,842,623 | G/A | — | likely benign |
| rs781290787 | 21:42,843,835 | C/T | — | likely benign |
| rs761703778 | 21:42,843,908 | T/C | — | likely benign |
| rs2517132853 | 21:42,845,304 | C/A | — | uncertain significance |
| rs2298658 | 21:42,845,359 | C/T | — | benign |
| rs61735796 | 21:42,845,373 | C/T | — | uncertain significance |
| rs1473161161 | 21:42,845,406 | T/C | — | uncertain significance |
| rs762050506 | 21:42,845,420 | C/A | — | uncertain significance |
| rs9983330 | 21:42,850,253 | A/G | regulatory region variant | — |
| rs141788162 | 21:42,851,134 | G/A | — | benign |
| rs781089181 | 21:42,852,434 | C/T | — | likely benign |
| rs61735789 | 21:42,852,435 | G/A | — | benign |
| rs12329760 | 21:42,852,497 | C/T | missense variant | uncertain significance |
| rs383510 | 21:42,858,367 | T/C | regulatory region variant | — |
| rs61735793 | 21:42,866,297 | G/A | — | benign |
| rs61735792 | 21:42,866,332 | A/G | — | benign |
| rs770214639 | 21:42,866,348 | G/A | — | uncertain significance |
| rs201679623 | 21:42,866,388 | A/C | — | benign |
| rs199824558 | 21:42,866,422 | G/A | — | benign |
| rs2091364188 | 21:42,866,427 | C/T | — | uncertain significance |
| rs2091364223 | 21:42,866,430 | T/C | — | uncertain significance |
| rs61735791 | 21:42,866,439 | C/T | — | likely benign |
| rs150502923 | 21:42,866,456 | G/A | — | uncertain significance |
| rs61735790 | 21:42,866,468 | T/C | — | benign |
| rs2517187924 | 21:42,870,070 | A/T | — | uncertain significance |
| rs144458055 | 21:42,878,469 | G/A | — | likely benign |
| rs75603675 | 21:42,879,909 | C/A | — | benign |
| rs200291871 | 21:42,879,910 | C/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.