KLK2
kallikrein related peptidase 2
Summary
This gene encodes a member of the grandular kallikrein protein family. Kallikreins are a subgroup of serine proteases that are clustered on chromosome 19. Members of this family are involved in a diverse array of biological functions. The protein encoded by this gene is a highly active trypsin-like serine protease that selectively cleaves at arginine residues. This protein is primarily expressed in prostatic tissue and is responsible for cleaving pro-prostate-specific antigen into its enzymatically active form. This gene is highly expressed in prostate tumor cells and may be a prognostic maker for prostate cancer risk. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Jan 2012]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10424878 | 19:51,374,967 | A/G | upstream gene variant | — |
| rs577568020 | 19:51,375,413 | T/C | — | — |
| rs2664156 | 19:51,377,163 | T/C | downstream gene variant | — |
| rs79449301 | 19:51,377,487 | A/T | downstream gene variant | — |
| rs776692267 | 19:51,378,001 | G/A | — | uncertain significance |
| rs765879466 | 19:51,378,029 | G/T | — | uncertain significance |
| rs547583032 | 19:51,378,031 | A/G | — | uncertain significance |
| rs2513949358 | 19:51,378,075 | C/A | — | uncertain significance |
| rs768545374 | 19:51,378,093 | G/C | — | uncertain significance |
| rs112103380 | 19:51,378,275 | G/C | — | — |
| rs150891637 | 19:51,379,669 | G/C | upstream gene variant | — |
| rs2513954454 | 19:51,379,747 | G/A | — | uncertain significance |
| rs982427872 | 19:51,379,813 | C/T | — | uncertain significance |
| rs764309655 | 19:51,379,832 | G/A | — | uncertain significance |
| rs143418432 | 19:51,379,845 | T/A | — | uncertain significance |
| rs198972 | 19:51,379,893 | C/T | synonymous variant | — |
| rs142858357 | 19:51,380,134 | G/A | — | uncertain significance |
| rs369369751 | 19:51,380,140 | G/A | — | likely benign |
| rs2513955920 | 19:51,380,172 | T/C | — | likely benign |
| rs145987976 | 19:51,380,176 | A/G | — | uncertain significance |
| rs59352575 | 19:51,381,369 | G/A | — | — |
| rs2090311195 | 19:51,381,681 | G/A | — | likely benign |
| rs781350069 | 19:51,381,747 | C/T | — | uncertain significance |
| rs140321127 | 19:51,381,764 | G/C | — | uncertain significance |
| rs198977 | 19:51,381,777 | C/T | missense variant | benign |
| rs138813375 | 19:51,382,496 | T/C | regulatory region variant | — |
| rs198978 | 19:51,383,072 | G/T | downstream gene variant | — |
| rs80050017 | 19:51,383,200 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.