rs266882
This is a upstream gene variant variant in the KLK3 gene.
▶Research that mentions this SNP (1)
▶A comprehensive resequence analysis of the KLK15–KLK3–KLK2 locus on chromosome 19q13.33MethodsN=78Hemang Parikh et al.(2010)· Human Genetics
A comprehensive resequencing analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33 in 78 individuals of European ancestry using 454 next-generation sequencing. The authors identified 555 polymorphic loci including 116 novel SNPs and 182 novel insertion/deletion polymorphisms. They discovered 11 coding variants in KLK3 (5 non-synonymous, 1 frameshift), 4 in KLK15, and 5 in KLK2. The key SNP rs2735839 lies in a region of relatively low linkage disequilibrium; two markers (rs2569735, rs1058205) in high LD (r²≥0.8) with rs2735839 were identified. This catalog of common genetic variation provides a foundation for fine-mapping studies of prostate cancer susceptibility and PSA regulation.
About KLK3
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]
View all KLK3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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