KNG1 Chromosome 3
Kininogen 1
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What This Gene Does
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. 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. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2020]
Gene Info
Gene Group
"Cystatins, type 3|Neuropeptides"
Locus Type
gene with protein product
Location
3q27.3
Ensembl
ENSG00000113889
Associated Conditions (6)
KININOGEN DEFICIENCY
TOTAL
High molecular weight kininogen deficiency
Angioedema
hereditary
6
Key Variants
RS121918131
Pathogenic
KININOGEN DEFICIENCY, TOTAL, High molecular weight kininogen deficiency
Health Risk
RS1369253342
Pathogenic
Angioedema, hereditary, 6
Health Risk
RS2473875619
Pathogenic
High molecular weight kininogen deficiency, High molecular weight kininogen deficiency
Health Risk
RS377594184
Pathogenic
High molecular weight kininogen deficiency, High molecular weight kininogen deficiency
Health Risk
RS752411996
Pathogenic
High molecular weight kininogen deficiency, High molecular weight kininogen deficiency
Health Risk
RS761496908
Pathogenic
High molecular weight kininogen deficiency, High molecular weight kininogen deficiency
Health Risk
RS765933558
Pathogenic
Angioedema, hereditary, 6
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918131 | Health Risk | Pathogenic | KININOGEN DEFICIENCY, TOTAL, High molecular weight kininogen deficiency |
| RS1369253342 | Health Risk | Pathogenic | Angioedema, hereditary, 6 |
| RS2473875619 | Health Risk | Pathogenic | High molecular weight kininogen deficiency, High molecular weight kininogen deficiency |
| RS377594184 | Health Risk | Pathogenic | High molecular weight kininogen deficiency, High molecular weight kininogen deficiency |
| RS752411996 | Health Risk | Pathogenic | High molecular weight kininogen deficiency, High molecular weight kininogen deficiency |
| RS761496908 | Health Risk | Pathogenic | High molecular weight kininogen deficiency, High molecular weight kininogen deficiency |
| RS765933558 | Health Risk | Pathogenic | Angioedema, hereditary, 6 |
| RS797044429 | Trait | Affects | High molecular weight kininogen deficiency, High molecular weight kininogen deficiency |
| RS797044430 | Trait | Affects | High molecular weight kininogen deficiency, High molecular weight kininogen deficiency |
| RS869320718 | Trait | Affects | High molecular weight kininogen deficiency, High molecular weight kininogen deficiency |