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GeneE
10 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.
KLKB1
kallikrein B1
Chromosome 4 Β· 4q35.2
NCBI Gene: 3818Ensembl: ENSG00000164344.17HGNC: HGNC:6371UniProt: A8K9A9
92PubMed Papers
21Diseases
7Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasminogen activationpositive regulation of fibrinolysisGO:0005615protein bindinginherited prekallikrein deficiencyprekallikrein deficiencyCongenital prekallikrein deficiencyhereditary angioedema
✦AI Summary

KLKB1 encodes plasma prekallikrein, a serine protease that plays a central role in the contact activation system of blood coagulation. The protein participates in surface-dependent activation of coagulation, forming a reciprocal activation loop with coagulation factor XII (F12) when binding to negatively charged surfaces 1. KLKB1 releases bradykinin from high molecular weight kininogen, making it a key regulator of the kallikrein-kinin system that controls vascular permeability and inflammation 2. The gene arose through duplication of the ancestral coagulation factor XI gene, establishing its unique evolutionary relationship within the coagulation cascade 1. Clinically, KLKB1 deficiency causes prekallikrein deficiency, while its overactivity contributes to hereditary angioedema pathogenesis through excessive bradykinin production 23. KLKB1 has emerged as a promising therapeutic target, with CRISPR-based gene editing therapies (NTLA-2002) showing 75-77% reduction in angioedema attacks by knocking out KLKB1 in hepatocytes 2. The protein also shows associations with cardiovascular disease risk through its role in HDL-mediated cholesterol efflux capacity 4 and has been identified as a potential drug target in stroke genetics studies 5.

Sources cited
1
KLKB1 encodes plasma prekallikrein and arose through duplication of coagulation factor XI gene, participates in reciprocal activation with factor XII
PMID: 37874916
2
KLKB1 releases bradykinin from kininogen and CRISPR-based therapy targeting KLKB1 reduces angioedema attacks by 75-77%
PMID: 39445704
3
NTLA-2002 therapy targeting KLKB1 led to dose-dependent reductions in plasma kallikrein levels and angioedema attacks
PMID: 38294975
4
KLKB1 locus is significantly associated with HDL-mediated cholesterol efflux capacity
PMID: 36812656
5
KLKB1 identified as possible drug target in stroke genetics studies
PMID: 36180795
Disease Associationsβ“˜21
inherited prekallikrein deficiencyOpen Targets
0.71Strong
prekallikrein deficiencyOpen Targets
0.67Moderate
Congenital prekallikrein deficiencyOpen Targets
0.60Moderate
hereditary angioedemaOpen Targets
0.60Moderate
blood coagulation diseaseOpen Targets
0.52Moderate
hemorrhageOpen Targets
0.51Moderate
angioedemaOpen Targets
0.49Moderate
venous thromboembolismOpen Targets
0.49Moderate
heart diseaseOpen Targets
0.41Moderate
serum lipopolysaccharide activityOpen Targets
0.39Weak
Alzheimer diseaseOpen Targets
0.37Weak
hemorrhagic diseaseOpen Targets
0.37Weak
radiologic findingOpen Targets
0.37Weak
pulmonary embolismOpen Targets
0.34Weak
cardiovascular diseaseOpen Targets
0.32Weak
coronary artery calcificationOpen Targets
0.32Weak
drug allergyOpen Targets
0.27Weak
Pulmonary InfarctionOpen Targets
0.24Weak
ThromboembolismOpen Targets
0.21Weak
deep vein thrombosisOpen Targets
0.20Weak
Prekallikrein deficiencyUniProt
Pathogenic Variants13
NM_000892.5(KLKB1):c.1204_1205del (p.Trp402fs)Pathogenic
Inherited prekallikrein deficiency|KLKB1-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 402
NM_000892.5(KLKB1):c.1259G>A (p.Gly420Glu)Pathogenic
Prekallikrein deficiency|Inherited prekallikrein deficiency
β˜…β˜…β˜†β˜†2016β†’ Residue 420
NM_000892.5(KLKB1):c.940G>T (p.Gly314Ter)Likely pathogenic
Inherited prekallikrein deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 314
NM_000892.5(KLKB1):c.870del (p.Glu290fs)Likely pathogenic
Inherited prekallikrein deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 290
NM_000892.5(KLKB1):c.204_207del (p.Ile68fs)Likely pathogenic
Inherited prekallikrein deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 68
NM_000892.5(KLKB1):c.1004del (p.Leu335fs)Likely pathogenic
KLKB1-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 335
NM_000892.5(KLKB1):c.1606C>T (p.Gln536Ter)Likely pathogenic
Inherited prekallikrein deficiency
β˜…β˜†β˜†β˜†2023β†’ Residue 536
NM_000892.5(KLKB1):c.1196G>A (p.Trp399Ter)Pathogenic
Inherited prekallikrein deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 399
NM_000892.5(KLKB1):c.143_221+128delPathogenic
Inherited prekallikrein deficiency
β˜…β˜†β˜†β˜†2022
NM_000892.5(KLKB1):c.689T>A (p.Ile230Asn)Likely pathogenic
Inherited prekallikrein deficiency
β˜…β˜†β˜†β˜†β†’ Residue 230
NM_000892.5(KLKB1):c.367G>A (p.Gly123Arg)Pathogenic
Prekallikrein deficiency
β˜†β˜†β˜†β˜†2007β†’ Residue 123
NM_000892.5(KLKB1):c.337C>T (p.Arg113Ter)Pathogenic
Prekallikrein deficiency
β˜†β˜†β˜†β˜†2004β†’ Residue 113
NM_000892.5(KLKB1):c.1205G>A (p.Trp402Ter)Pathogenic
Prekallikrein deficiency
β˜†β˜†β˜†β˜†2003β†’ Residue 402
View on ClinVar β†—
Drug Targets7
APROTININApproved
Plasminogen inhibitor
hemorrhage
AVORALSTATPhase III
Plasma kallikrein inhibitor
hereditary angioedema
BEROTRALSTATApproved
Plasma kallikrein inhibitor
hereditary angioedema
BEROTRALSTAT HYDROCHLORIDEApproved
Plasma kallikrein inhibitor
angioedema
ECALLANTIDEApproved
Plasma kallikrein inhibitor
HUMAN C1-ESTERASE INHIBITORApproved
Coagulation factor XI inhibitor
hereditary angioedema
LANADELUMABApproved
Plasma kallikrein inhibitor
hereditary angioedema
Related Genes
F2Protein interaction100%SERPINF2Protein interaction97%SERPINA5Protein interaction97%PLGProtein interaction95%SLC45A3Protein interaction86%TGM4Protein interaction83%
Tissue Expression6 tissues
Liver
100%
Heart
2%
Bone Marrow
1%
Lung
0%
Ovary
0%
Brain
0%
Gene Interaction Network
Click a node to explore
KLKB1F2SERPINF2SERPINA5PLGSLC45A3TGM4
PROTEIN STRUCTURE
Preparing viewer…
PDB6I44 Β· 1.36 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.58–0.97]
RankingsWhere KLKB1 stands among ~20K protein-coding genes
  • #5,195of 20,598
    Most Researched92
  • #273of 1,025
    FDA-Approved Drug Targets6
  • #2,589of 5,498
    Most Pathogenic Variants13
  • #9,262of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedKLKB1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Stroke genetics informs drug discovery and risk prediction across ancestries.
PMID: 36180795
Nature Β· 2022
1.00
2
CRISPR-Based Therapy for Hereditary Angioedema.
PMID: 39445704
N Engl J Med Β· 2025
0.90
3
CRISPR-Cas9 In Vivo Gene Editing of
PMID: 38294975
N Engl J Med Β· 2024
0.80
4
Identifying Potential Drug Targets for Keloid: AΒ Mendelian Randomization Study.
PMID: 38797322
J Invest Dermatol Β· 2025
0.70
5
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
0.60