PRTN3
proteinase 3
Summary
Enables enzyme binding activity; serine-type endopeptidase activity; and signaling receptor binding activity. Involved in several processes, including mature conventional dendritic cell differentiation; neutrophil extravasation; and positive regulation of GTPase activity. Located in azurophil granule lumen; cytosol; and plasma membrane raft. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138032111 | 19:839,269 | C/T | upstream gene variant | — |
| rs4807929 | 19:840,319 | C/T | upstream gene variant | — |
| rs11666373 | 19:840,599 | G/T | — | — |
| rs12052121 | 19:840,689 | C/T | upstream gene variant | — |
| rs140104242 | 19:841,019 | G/A | — | likely benign |
| rs538751839 | 19:841,023 | C/T | — | likely benign |
| rs2512154536 | 19:843,571 | G/C | — | uncertain significance |
| rs761955640 | 19:843,590 | G/C | — | uncertain significance |
| rs145358114 | 19:843,597 | G/T | — | likely benign |
| rs367854995 | 19:843,609 | G/T | — | likely benign |
| rs1309128203 | 19:843,973 | C/T | — | uncertain significance |
| rs144775105 | 19:846,150 | A/G | — | uncertain significance |
| rs113284122 | 19:846,169 | G/A | — | likely benign |
| rs2512157712 | 19:846,246 | T/G | — | uncertain significance |
| rs2512157737 | 19:846,256 | T/G | — | uncertain significance |
| rs2512157755 | 19:846,268 | A/C | — | uncertain significance |
| rs1218428742 | 19:846,274 | C/A | — | uncertain significance |
| rs367787200 | 19:846,298 | A/G | — | uncertain significance |
| rs139778046 | 19:846,331 | A/T | missense variant | Uncertain significance |
| rs765476292 | 19:847,877 | C/G | — | likely benign |
| rs1230219461 | 19:847,901 | C/T | — | uncertain significance |
| rs754743511 | 19:847,910 | C/T | — | uncertain significance |
| rs150802678 | 19:847,944 | G/A | — | likely benign |
| rs561650737 | 19:847,957 | G/C | — | uncertain significance |
| rs544922122 | 19:848,343 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.