TMPRSS4
transmembrane serine protease 4
Summary
This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. The protein has been found to promote SARS-CoV-2 entry into host cells. [provided by RefSeq, Aug 2021]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs117898143 | 11:117,947,757 | G/A | regulatory region variant | — |
| rs12279572 | 11:117,952,960 | A/G | intron variant | — |
| rs200645289 | 11:117,965,537 | G/A | — | uncertain significance |
| rs149423953 | 11:117,969,714 | C/T | — | uncertain significance |
| rs148550252 | 11:117,969,787 | C/T | — | likely benign |
| rs117645554 | 11:117,973,151 | G/A | intron variant | — |
| rs2135405829 | 11:117,973,906 | G/C | — | uncertain significance |
| rs144601347 | 11:117,973,928 | G/C | — | uncertain significance |
| rs2497327112 | 11:117,973,931 | C/G | — | uncertain significance |
| rs200746355 | 11:117,973,944 | T/C | — | uncertain significance |
| rs140457645 | 11:117,975,409 | G/A | — | uncertain significance |
| rs772088515 | 11:117,975,424 | G/A | — | uncertain significance |
| rs758918379 | 11:117,975,469 | C/A | — | uncertain significance |
| rs191486102 | 11:117,977,777 | T/C | regulatory region variant | — |
| rs144820624 | 11:117,978,572 | G/A | — | likely benign |
| rs186741006 | 11:117,979,518 | C/A | intron variant | — |
| rs748690185 | 11:117,979,572 | C/G | — | uncertain significance |
| rs45441097 | 11:117,979,606 | G/C | — | likely benign |
| rs138365318 | 11:117,982,024 | A/G | regulatory region variant | — |
| rs748624993 | 11:117,982,557 | G/A | — | likely benign |
| rs1947368020 | 11:117,983,988 | C/T | — | uncertain significance |
| rs1378082853 | 11:117,984,037 | G/T | — | uncertain significance |
| rs147308744 | 11:117,984,072 | A/G | — | likely benign |
| rs142842357 | 11:117,985,851 | A/G | — | likely benign |
| rs774806283 | 11:117,985,925 | C/T | — | uncertain significance |
| rs369196391 | 11:117,985,938 | A/T | — | uncertain significance |
| rs751289713 | 11:117,985,961 | C/T | — | uncertain significance |
| rs1028653996 | 11:117,985,982 | T/G | — | uncertain significance |
| rs1359554977 | 11:117,985,985 | A/T | — | uncertain significance |
| rs200732603 | 11:117,988,029 | G/C | — | uncertain significance |
| rs775314905 | 11:117,988,063 | A/C | — | uncertain significance |
| rs1232636836 | 11:117,988,117 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.