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

rsidPosition (GRCh37)AllelesClassClinVar
rs7305031719:51,357,462G/Tupstream gene variant—
rs26688219:51,358,013G/Aupstream gene variant—
rs78009048319:51,358,249C/T—uncertain significance
rs36870977719:51,359,487C/G—likely benign
rs1157319:51,359,497C/T—benign
rs113576619:51,359,503A/G—benign
rs14744608419:51,359,520G/A—uncertain significance
rs227109219:51,359,543G/A—benign
rs77335083619:51,359,559C/A—uncertain significance
rs20071265519:51,359,565A/T—benign
rs725224519:51,359,566G/A—benign
rs14031858319:51,359,577C/A—uncertain significance
rs13956085119:51,359,583G/A—likely benign
rs74709471219:51,359,594G/C—uncertain significance
rs36922344819:51,359,603G/A—uncertain significance
rs141422035719:51,359,613T/G—uncertain significance
rs159999070719:51,359,616A/G—uncertain significance
rs37159580519:51,359,645T/C—uncertain significance
rs106147719:51,360,096T/Cupstream gene variant—
rs11225852019:51,360,770C/Tupstream gene variant—
rs6211321219:51,360,840C/Tupstream gene variant—
rs76813451619:51,361,312C/G—uncertain significance
rs1294619:51,361,315T/C—benign
rs76809883219:51,361,338G/A—uncertain significance
rs6175256119:51,361,382G/Amissense variant—
rs74760000019:51,361,401A/C—uncertain significance
rs77269934019:51,361,404G/A—likely benign
rs6175034319:51,361,451C/T—benign
rs200378319:51,361,472C/Amissense variantbenign
rs102802593219:51,361,481G/A—uncertain significance
rs14754763819:51,361,525G/A—likely benign
rs37648390719:51,361,537C/T—likely benign
rs77819105619:51,361,715T/C—uncertain significance
rs37219069519:51,361,752T/C—likely benign
rs1763254219:51,361,757T/Cmissense variant—
rs77285340019:51,361,766A/T—uncertain significance
rs78018449919:51,361,814G/T—uncertain significance
rs54629456819:51,361,822C/T—uncertain significance
rs97889209519:51,361,823G/A—likely benign
rs6172981319:51,361,850C/G—likely benign
rs6211321419:51,362,537T/Gupstream gene variant—
rs3519286619:51,362,803C/T—benign
rs7393261719:51,362,804G/A—benign
rs54963709519:51,363,242C/G—likely benign
rs101897700019:51,363,258G/C—uncertain significance
rs13888254219:51,363,277C/T—uncertain significance
rs6173630919:51,363,278G/A—benign
rs20011626219:51,363,286G/A—uncertain significance
rs7924539919:51,363,296A/G—benign
rs20000694219:51,363,369G/T—uncertain significance
rs159999693819:51,363,387C/T—not provided
rs105820519:51,363,398C/Tupstream gene variantbenign
rs256973519:51,364,269A/Gdownstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.