HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KNG1
kininogen 1
Chromosome 3 Β· 3q27.3
NCBI Gene: 3827Ensembl: ENSG00000113889.15HGNC: HGNC:6383UniProt: P01042
201PubMed Papers
22Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular regionGO:0005615protein bindingsignaling receptor bindingcongenital high-molecular-weight kininogen deficiencyhereditary angioedemavenous thromboembolismcoronary artery disease
✦AI Summary

KNG1 (kininogen 1) encodes a multifunctional plasma protein that serves as a precursor for the potent vasoactive peptide bradykinin and functions as a cysteine protease inhibitor. The protein plays crucial roles in the kallikrein-kinin system, where it contributes to coagulation regulation and vascular homeostasis 1. KNG1 mutations are associated with hereditary angioedema with normal C1 inhibitor (HAEnCI), a rare autosomal dominant disorder characterized by recurrent episodes of potentially life-threatening angioedema 23. Beyond its role in angioedema, KNG1 variants significantly influence circulating adiponectin levels, linking it to metabolic disorders including obesity and type 2 diabetes 4. The protein shows altered expression patterns in various pathological conditions: it serves as a potential biomarker for hepatocellular carcinoma when detected in small extracellular vesicles 5, exhibits structural changes in cerebrospinal fluid during aging 6, and demonstrates causal associations with venous thromboembolism risk through Mendelian randomization studies 7. Additionally, KNG1 interacts with PAI-1 in endometrial stromal cells, contributing to decidualization processes important for embryo implantation 8. These diverse functions highlight KNG1's importance in vascular biology, inflammation, metabolism, and reproductive health.

Sources cited
1
KNG1 mutations cause hereditary angioedema with normal C1 inhibitor (HAE-KNG1)
PMID: 36609679
2
KNG1 mutations are found in patients with chronic recurrent angioedema and normal C1 inhibitor
PMID: 36787826
3
KNG1 genetic variants contribute to variability in circulating adiponectin levels and are associated with metabolic phenotypes
PMID: 22449616
4
KNG1 is identified as a potential vesicular protein biomarker for distinguishing HBV-HCC from other conditions
PMID: 39207047
5
KNG1 shows aging-associated structural changes in cerebrospinal fluid
PMID: 36741774
6
KNG1 is associated with circulating coagulation factor VIII levels
PMID: 38320121
7
KNG1 demonstrates Mendelian randomized correlations with venous thromboembolism
PMID: 37537391
8
KNG1 interacts with PAI-1 in human endometrial stromal cells and affects decidualization
PMID: 39718443
Disease Associationsβ“˜22
congenital high-molecular-weight kininogen deficiencyOpen Targets
0.75Strong
hereditary angioedemaOpen Targets
0.45Moderate
venous thromboembolismOpen Targets
0.35Weak
coronary artery diseaseOpen Targets
0.25Weak
Ischemic strokeOpen Targets
0.25Weak
serum lipopolysaccharide activityOpen Targets
0.24Weak
premature birthOpen Targets
0.23Weak
alcohol drinkingOpen Targets
0.19Weak
thrombotic diseaseOpen Targets
0.12Weak
PhlebitisOpen Targets
0.11Weak
ThrombophlebitisOpen Targets
0.11Weak
neuropathic painOpen Targets
0.10Weak
gliomaOpen Targets
0.10Suggestive
clear cell renal carcinomaOpen Targets
0.10Suggestive
pathological myopiaOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
Von Willebrand diseaseOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
papillary renal cell carcinomaOpen Targets
0.08Suggestive
Angioedema, hereditary, 6UniProt
High molecular weight kininogen deficiencyUniProt
Pathogenic Variants9
NM_001102416.3(KNG1):c.1565_1566del (p.Glu522fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 522
NM_001102416.3(KNG1):c.1080G>A (p.Trp360Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 360
NM_001102416.3(KNG1):c.718C>T (p.Arg240Ter)Pathogenic
High molecular weight kininogen deficiency
β˜…β˜†β˜†β˜†2023β†’ Residue 240
NM_001102416.3(KNG1):c.586C>T (p.Arg196Ter)Pathogenic
KININOGEN DEFICIENCY, TOTAL|High molecular weight kininogen deficiency
β˜…β˜†β˜†β˜†2023β†’ Residue 196
NM_001102416.3(KNG1):c.306+2T>APathogenic
High molecular weight kininogen deficiency
β˜…β˜†β˜†β˜†2023
NM_001102416.3(KNG1):c.1165C>T (p.Arg389Ter)Pathogenic
High molecular weight kininogen deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 389
NM_001102416.3(KNG1):c.1038+1G>APathogenic
High molecular weight kininogen deficiency
β˜…β˜†β˜†β˜†2022
NM_001102416.3(KNG1):c.1136T>A (p.Met379Lys)Pathogenic
Angioedema, hereditary, 6
β˜†β˜†β˜†β˜†2024β†’ Residue 379
NM_001102416.3(KNG1):c.1720C>G (p.Pro574Ala)Pathogenic
Angioedema, hereditary, 6
β˜†β˜†β˜†β˜†2021β†’ Residue 574
View on ClinVar β†—
Related Genes
AGTProtein interaction100%BDKRB1Protein interaction100%BDKRB2Protein interaction100%ACEProtein interaction100%EDN1Protein interaction100%PLGProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Lung
0%
Ovary
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
KNG1AGTBDKRB1BDKRB2ACEEDN1PLG
PROTEIN STRUCTURE
Preparing viewer…
PDB2WOK Β· 1.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.57Moderately Constrained
pLIβ“˜
0.81Intermediate
Observed/Expected LoF0.35 [0.23–0.57]
RankingsWhere KNG1 stands among ~20K protein-coding genes
  • #2,097of 20,598
    Most Researched201 Β· top quartile
  • #2,919of 5,498
    Most Pathogenic Variants9
  • #3,804of 17,882
    Most Constrained (LOEUF)0.57 Β· top quartile
Genes detectedKNG1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.
PMID: 36609679
Adv Ther Β· 2023
1.00
2
Limited Proteolysis-Mass Spectrometry Reveals Aging-Associated Changes in Cerebrospinal Fluid Protein Abundances and Structures.
PMID: 36741774
Nat Aging Β· 2022
0.90
3
Genetics of adiponectin.
PMID: 22449616
Biochimie Β· 2012
0.80
4
The trajectory of vesicular proteomic signatures from HBV-HCC by chitosan-magnetic bead-based separation and DIA-proteomic analysis.
PMID: 39207047
J Extracell Vesicles Β· 2024
0.70
5
Cerebrospinal Fluid Proteomic Profiles in Patients with Postherpetic Neuralgia.
PMID: 37966014
J Proteome Res Β· 2023
0.64