KLK3
kallikrein related peptidase 3
Summary
Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. It encodes a single-chain glycoprotein, a protease which is synthesized in the epithelial cells of the prostate gland, and is present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. The serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73050317 | 19:51,357,462 | G/T | upstream gene variant | — |
| rs266882 | 19:51,358,013 | G/A | upstream gene variant | — |
| rs780090483 | 19:51,358,249 | C/T | — | uncertain significance |
| rs368709777 | 19:51,359,487 | C/G | — | likely benign |
| rs11573 | 19:51,359,497 | C/T | — | benign |
| rs1135766 | 19:51,359,503 | A/G | — | benign |
| rs147446084 | 19:51,359,520 | G/A | — | uncertain significance |
| rs2271092 | 19:51,359,543 | G/A | — | benign |
| rs773350836 | 19:51,359,559 | C/A | — | uncertain significance |
| rs200712655 | 19:51,359,565 | A/T | — | benign |
| rs7252245 | 19:51,359,566 | G/A | — | benign |
| rs140318583 | 19:51,359,577 | C/A | — | uncertain significance |
| rs139560851 | 19:51,359,583 | G/A | — | likely benign |
| rs747094712 | 19:51,359,594 | G/C | — | uncertain significance |
| rs369223448 | 19:51,359,603 | G/A | — | uncertain significance |
| rs1414220357 | 19:51,359,613 | T/G | — | uncertain significance |
| rs1599990707 | 19:51,359,616 | A/G | — | uncertain significance |
| rs371595805 | 19:51,359,645 | T/C | — | uncertain significance |
| rs1061477 | 19:51,360,096 | T/C | upstream gene variant | — |
| rs112258520 | 19:51,360,770 | C/T | upstream gene variant | — |
| rs62113212 | 19:51,360,840 | C/T | upstream gene variant | — |
| rs768134516 | 19:51,361,312 | C/G | — | uncertain significance |
| rs12946 | 19:51,361,315 | T/C | — | benign |
| rs768098832 | 19:51,361,338 | G/A | — | uncertain significance |
| rs61752561 | 19:51,361,382 | G/A | missense variant | — |
| rs747600000 | 19:51,361,401 | A/C | — | uncertain significance |
| rs772699340 | 19:51,361,404 | G/A | — | likely benign |
| rs61750343 | 19:51,361,451 | C/T | — | benign |
| rs2003783 | 19:51,361,472 | C/A | missense variant | benign |
| rs1028025932 | 19:51,361,481 | G/A | — | uncertain significance |
| rs147547638 | 19:51,361,525 | G/A | — | likely benign |
| rs376483907 | 19:51,361,537 | C/T | — | likely benign |
| rs778191056 | 19:51,361,715 | T/C | — | uncertain significance |
| rs372190695 | 19:51,361,752 | T/C | — | likely benign |
| rs17632542 | 19:51,361,757 | T/C | missense variant | — |
| rs772853400 | 19:51,361,766 | A/T | — | uncertain significance |
| rs780184499 | 19:51,361,814 | G/T | — | uncertain significance |
| rs546294568 | 19:51,361,822 | C/T | — | uncertain significance |
| rs978892095 | 19:51,361,823 | G/A | — | likely benign |
| rs61729813 | 19:51,361,850 | C/G | — | likely benign |
| rs62113214 | 19:51,362,537 | T/G | upstream gene variant | — |
| rs35192866 | 19:51,362,803 | C/T | — | benign |
| rs73932617 | 19:51,362,804 | G/A | — | benign |
| rs549637095 | 19:51,363,242 | C/G | — | likely benign |
| rs1018977000 | 19:51,363,258 | G/C | — | uncertain significance |
| rs138882542 | 19:51,363,277 | C/T | — | uncertain significance |
| rs61736309 | 19:51,363,278 | G/A | — | benign |
| rs200116262 | 19:51,363,286 | G/A | — | uncertain significance |
| rs79245399 | 19:51,363,296 | A/G | — | benign |
| rs200006942 | 19:51,363,369 | G/T | — | uncertain significance |
| rs1599996938 | 19:51,363,387 | C/T | — | not provided |
| rs1058205 | 19:51,363,398 | C/T | upstream gene variant | benign |
| rs2569735 | 19:51,364,269 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.