Gene: KLK3

Alternate names for this Gene: APS|KLK2A1|PSA|hK3

Gene 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.33

Description of this Gene: kallikrein related peptidase 3

Type of Gene: protein-coding

rs1061477 in KLK3 gene and Asthma PMID 23040885 2012 Further replication studies of the EVE Consortium meta-analysis identifies 2 asthma risk loci in European Americans.

rs1058205 in KLK3 gene and Malignant neoplasm of prostate PMID 18264097 2008 Multiple newly identified loci associated with prostate cancer susceptibility.

PMID 24753544 2014 When comparing prostate cancer cases with low PSA controls, alleles at genetic markers rs1512268, rs445114, rs10788160, rs11199874, rs17632542, rs266849, and rs2735839 were associated with an increased risk of prostate cancer, but the effect-estimates were attenuated to the null when using high PSA controls (Pheterogeneity in effect-estimates < 0.04).

rs17632542 in KLK3 gene and Prostate carcinoma PMID 24753544 2014 When comparing prostate cancer cases with low PSA controls, alleles at genetic markers rs1512268, rs445114, rs10788160, rs11199874, rs17632542, rs266849, and rs2735839 were associated with an increased risk of prostate cancer, but the effect-estimates were attenuated to the null when using high PSA controls (Pheterogeneity in effect-estimates < 0.04).

PMID 24740154 2014 Genome-wide association scan for variants associated with early-onset prostate cancer.

PMID 25939597 2015 Two susceptibility loci identified for prostate cancer aggressiveness.

rs1058205 in KLK3 gene and Prostate specific antigen measurement PMID 21160077 2010 Genetic correction of PSA values using sequence variants associated with PSA levels.

PMID 24919509 2014 Rs16856139 in SLC45A3, the same region as the previous Chinese study, showed an overall significant association with PSA levels (p=2.4×10(-11)) along with rs1058205 in KLK3.

PMID 28139693 2017 Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer.

PMID 21160077 2010 Overall, we detected a genome-wide significant association between PSA levels and single-nucleotide polymorphisms (SNPs) at six loci: 5p15.33 (rs2736098), 10q11 (rs10993994), 10q26 (rs10788160), 12q24 (rs11067228), 17q12 (rs4430796), and 19q13.33 [rs17632542 (KLK3: I179T)], each with P(combined) <3 × 10(-10).