Gene: KNG1

Alternate names for this Gene: BDK|BK|HMWK|KNG

Gene Summary: This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. In contrast to HMWK, LMWK is not involved in blood coagulation. Three transcript variants encoding different isoforms have been found for this gene. Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reduces or depletes angiotensin converting enzyme 2 (ACE2), which results in an increase in levels of des-Arg(9)-bradykinin, a bioactive metabolite of bradykinin that is associated with lung injury and inflammation.

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.3

Description of this Gene: kininogen 1

Type of Gene: protein-coding

rs1621816 in KNG1 gene and Activated Partial Thromboplastin Time measurement PMID 23188048 2013 A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 22703881 2012 Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.

PMID 20303064 2010 We conducted a genome-wide association study for aPTT and identified significant associations with SNPs in three coagulation cascade genes, F12 (rs2731672, combined p = 2.16 x 10(-30)), KNG1 (rs710446, combined p = 9.52 x 10(-22)), and HRG (rs9898, combined p = 1.34 x 10(-11)).

rs138610068 in KNG1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs698078 in KNG1 gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.