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 pept... See more...

Aliases for KNG1 Gene

Aliases for KNG1 Gene

  • Kininogen 1 2 3 5
  • Alpha-2-Thiol Proteinase Inhibitor 2 3 4
  • Williams-Fitzgerald-Flaujeac Factor 3 4
  • High Molecular Weight Kininogen 3 4
  • Fitzgerald Factor 3 4
  • Kininogen-1 3 4
  • Bradykinin 2 3
  • HMWK 3 4
  • BDK 3 4
  • KNG 3 4
  • BK 2 3
  • Kininogen 2
  • KNG1 5

External Ids for KNG1 Gene

Previous HGNC Symbols for KNG1 Gene

  • KNG
  • BDK

Previous GeneCards Identifiers for KNG1 Gene

  • GC03P187757
  • GC03P187917
  • GC03P186435
  • GC03P183844

Summaries for KNG1 Gene

Entrez Gene Summary for KNG1 Gene

  • 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]

GeneCards Summary for KNG1 Gene

KNG1 (Kininogen 1) is a Protein Coding gene. Diseases associated with KNG1 include High Molecular Weight Kininogen Deficiency and Angioedema. Among its related pathways are Collagen chain trimerization and Complement and coagulation cascades. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is HRG.

UniProtKB/Swiss-Prot Summary for KNG1 Gene

  • (1) Kininogens are inhibitors of thiol proteases; (2) HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen inhibits the thrombin- and plasmin-induced aggregation of thrombocytes; (4) the active peptide bradykinin that is released from HMW-kininogen shows a variety of physiological effects: (4A) influence in smooth muscle contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level, (4E) it is a mediator of inflammation and causes (4E1) increase in vascular permeability, (4E2) stimulation of nociceptors (4E3) release of other mediators of inflammation (e.g. prostaglandins), (4F) it has a cardioprotective effect (directly via bradykinin action, indirectly via endothelium-derived relaxing factor action); (5) LMW-kininogen inhibits the aggregation of thrombocytes; (6) LMW-kininogen is in contrast to HMW-kininogen not involved in blood clotting.

Tocris Summary for KNG1 Gene

  • Bradykinin and related kinins are a family of small peptides which act as mediators of pain and inflammation. They exert a variety of biological effects on the endothelium and peripheral circulation through their action on two bradykinin receptor subtypes: B1 and B2.

Gene Wiki entry for KNG1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KNG1 Gene

Genomics for KNG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KNG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J186716 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 259.7 -0.1 -109 1 KLF9 CEBPA ATF3 YY1 FOXA2 SMAD4 RXRA SAP130 RARA TEAD3 KNG1 LOC105374258 ENSG00000197099 HRG
GH03J186824 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 9.8 +109.2 109193 3.3 ZNF207 ZNF600 ZNF592 CEBPA BRCA1 POLR2A ZIC2 MXD4 NONO REST ENSG00000231982 HSALNG0031394 LINC02043 lnc-ADIPOQ-1 SNORA63B RFC4 TRA2B TBCCD1 SNORA63 SNORA81
GH03J186753 Promoter/Enhancer 1.4 Ensembl ENCODE 11 +36.5 36480 4.5 IKZF1 ZNF600 ZNF223 BRCA1 YY1 REST CEBPB CTCF MAX ZNF217 LOC105374259 EIF4A2 KNG1 SNORA63 SNORA63B SNORA81 RFC4 FETUB ENSG00000231724 AHSG
GH03J186640 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 10.5 -76.7 -76747 1.6 CEBPA ATF3 RXRA JUND FOSL2 HNF4A FOXA1 MAX SP1 REST FETUB AHSG KNG1 RFC4 ENSG00000231724 ADIPOQ HSALNG0031382-002 HRG LOC105374258 ENSG00000197099
GH03J186597 Enhancer 1.1 Ensembl ENCODE 10.3 -117.7 -117698 3.4 KLF9 CEBPA ATF3 ZFP64 ARNT KMT2B THAP11 FOXA2 KDM6A SMAD4 FETUB KNG1 HRG ENSG00000283390 piR-50444-330 AHSG ENSG00000283149 HSALNG0031382-001 ENSG00000197099
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KNG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KNG1

Top Transcription factor binding sites by QIAGEN in the KNG1 gene promoter:
  • AREB6
  • C/EBPbeta
  • Chx10
  • FOXD3
  • HNF-3beta
  • HTF
  • MRF-2
  • SRF
  • SRF (504 AA)

Genomic Locations for KNG1 Gene

Latest Assembly
chr3:186,717,348-186,744,410
(GRCh38/hg38)
Size:
27,063 bases
Orientation:
Plus strand

Previous Assembly
chr3:186,435,148-186,462,199
(GRCh37/hg19 by Entrez Gene)
Size:
27,052 bases
Orientation:
Plus strand

chr3:186,435,065-186,461,743
(GRCh37/hg19 by Ensembl)
Size:
26,679 bases
Orientation:
Plus strand

Genomic View for KNG1 Gene

Genes around KNG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KNG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KNG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KNG1 Gene

Proteins for KNG1 Gene

  • Protein details for KNG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01042-KNG1_HUMAN
    Recommended name:
    Kininogen-1
    Protein Accession:
    P01042
    Secondary Accessions:
    • A8K474
    • B2RCR2
    • C9JEX1
    • P01043
    • Q53EQ0
    • Q6PAU9
    • Q7M4P1

    Protein attributes for KNG1 Gene

    Size:
    644 amino acids
    Molecular mass:
    71957 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for KNG1 Gene

    Alternative splice isoforms for KNG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KNG1 Gene

Post-translational modifications for KNG1 Gene

  • Bradykinin is released from kininogen by plasma kallikrein.
  • Hydroxylation of Pro-383 occurs prior to the release of bradykinin.
  • Phosphorylated by FAM20C in the extracellular medium.
  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
  • Glycosylation at Asn48, Asn169, Asn205, Asn294, Thr401, Thr533, Thr542, Thr546, Thr557, Thr571, Ser577, and Thr628
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • KNG1_HUMAN (810)

Other Protein References for KNG1 Gene

Antibodies for research

No data available for DME Specific Peptides for KNG1 Gene

Domains & Families for KNG1 Gene

Gene Families for KNG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for KNG1 Gene

InterPro:
Blocks:
  • Cysteine protease inhibitor
  • HMW kininogen signature

Suggested Antigen Peptide Sequences for KNG1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53075, highly similar to Kininogen-1 (B4DPP8_HUMAN)
  • cDNA FLJ56836, highly similar to Kininogen-1 (B4E1C2_HUMAN)
  • Kininogen 1, isoform CRA_a (D3DNU8_HUMAN)
  • Williams-Fitzgerald-Flaujeac factor (KNG1_HUMAN)
  • KNG1 protein (Q05CF8_HUMAN)
genes like me logo Genes that share domains with KNG1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KNG1 Gene

Function for KNG1 Gene

Molecular function for KNG1 Gene

UniProtKB/Swiss-Prot Function:
(1) Kininogens are inhibitors of thiol proteases; (2) HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen inhibits the thrombin- and plasmin-induced aggregation of thrombocytes; (4) the active peptide bradykinin that is released from HMW-kininogen shows a variety of physiological effects: (4A) influence in smooth muscle contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level, (4E) it is a mediator of inflammation and causes (4E1) increase in vascular permeability, (4E2) stimulation of nociceptors (4E3) release of other mediators of inflammation (e.g. prostaglandins), (4F) it has a cardioprotective effect (directly via bradykinin action, indirectly via endothelium-derived relaxing factor action); (5) LMW-kininogen inhibits the aggregation of thrombocytes; (6) LMW-kininogen is in contrast to HMW-kininogen not involved in blood clotting.

Phenotypes From GWAS Catalog for KNG1 Gene

Gene Ontology (GO) - Molecular Function for KNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity IBA 21873635
GO:0004869 cysteine-type endopeptidase inhibitor activity IBA,IDA 3488317
GO:0005102 signaling receptor binding IPI 11290596
GO:0005515 protein binding IPI 8710908
GO:0008201 heparin binding NAS 12911595
genes like me logo Genes that share ontologies with KNG1: view
genes like me logo Genes that share phenotypes with KNG1: view

Animal Models for KNG1 Gene

MGI Knock Outs for KNG1:
  • Kng1 Kng1<tm1Krmc>
  • Kng2 Kng2<tm2a(EUCOMM)Wtsi>

miRNA for KNG1 Gene

miRTarBase miRNAs that target KNG1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KNG1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KNG1 Gene

Localization for KNG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KNG1 Gene

Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KNG1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
mitochondrion 3
nucleus 3
cytosol 3
cytoskeleton 2
peroxisome 2
endosome 2
lysosome 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for KNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005615 extracellular space IEA,IDA 3488317
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0031093 platelet alpha granule lumen TAS --
genes like me logo Genes that share ontologies with KNG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KNG1 Gene

Pathways & Interactions for KNG1 Gene

genes like me logo Genes that share pathways with KNG1: view

SIGNOR curated interactions for KNG1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for KNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006954 inflammatory response IEA --
GO:0007162 negative regulation of cell adhesion IDA 11970955
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007204 positive regulation of cytosolic calcium ion concentration IDA 16014619
genes like me logo Genes that share ontologies with KNG1: view

Drugs & Compounds for KNG1 Gene

(102) Drugs for KNG1 Gene - From: DrugBank, PharmGKB, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 276
Zinc Approved, Investigational Pharma Target 1706
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target, cofactor 0
Zinc sulfate, unspecified form Approved, Experimental Pharma Target, cofactor 0

(51) Additional Compounds for KNG1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[Des-Arg9]-Bradykinin
15958-92-6

(5) Tocris Compounds for KNG1 Gene

Compound Action Cas Number
[Des-Arg9]-Bradykinin Bradykinin receptor agonist (B1 > B2) 15958-92-6
Bombinakinin M Potent bradykinin receptor agonist 509151-65-9
Bradykinin Endogenous agonist at bradykinin receptors (B2 > B1) 58-82-2
Lys-[Des-Arg9]Bradykinin Selective B1 agonist 71800-36-7
Lys-Bradykinin Potent bradykinin receptor agonist (B2 > B1) 342-10-9
genes like me logo Genes that share compounds with KNG1: view

Transcripts for KNG1 Gene

mRNA/cDNA for KNG1 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KNG1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for KNG1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: -
SP2: - -
SP3: - -

Relevant External Links for KNG1 Gene

GeneLoc Exon Structure for
KNG1

Expression for KNG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KNG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KNG1 Gene

This gene is overexpressed in Liver (x49.0).

Protein differential expression in normal tissues from HIPED for KNG1 Gene

This gene is overexpressed in Synovial fluid (13.5), Serum (13.4), Plasma (11.4), Urine (11.1), and Monocytes (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KNG1 Gene



Protein tissue co-expression partners for KNG1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KNG1

SOURCE GeneReport for Unigene cluster for KNG1 Gene:

Hs.77741

mRNA Expression by UniProt/SwissProt for KNG1 Gene:

P01042-KNG1_HUMAN
Tissue specificity: Secreted in plasma. T-kinin is detected in malignant ovarian, colon and breast carcinomas, but not in benign tumors.

Evidence on tissue expression from TISSUES for KNG1 Gene

  • Liver(4.9)
  • Kidney(4.9)
  • Nervous system(4.6)
  • Bone marrow(4.3)
  • Heart(3.8)
  • Blood(3.4)
  • Intestine(3.1)
  • Muscle(3)
  • Adrenal gland(2.9)
  • Gall bladder(2.8)
  • Lung(2.8)
  • Pancreas(2.6)
  • Eye(2.4)
  • Urine(2.2)
  • Skin(2.2)
  • Spleen(2.2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KNG1 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Regions:
General:
  • blood
  • coagulation system
genes like me logo Genes that share expression patterns with KNG1: view

Orthologs for KNG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KNG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KNG1 29 30
  • 99.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KNG1 29 30
  • 82.11 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KNG1 29 30
  • 79.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kng2 29
  • 73.14 (n)
Mouse
(Mus musculus)
Mammalia Kng1 29 16 30
  • 72.53 (n)
OneToMany
Kng2 16 30
  • 57 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia KNG1 30
  • 34 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KNG1 30
  • 34 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KNG1 29 30
  • 53.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KNG1 30
  • 37 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kng1 29
  • 49.29 (n)
Zebrafish
(Danio rerio)
Actinopterygii kng1 30
  • 26 (a)
OneToOne
Species where no ortholog for KNG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for KNG1 Gene

ENSEMBL:
Gene Tree for KNG1 (if available)
TreeFam:
Gene Tree for KNG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KNG1: view image
Alliance of Genome Resources:
Additional Orthologs for KNG1

Paralogs for KNG1 Gene

Paralogs for KNG1 Gene

(1) SIMAP similar genes for KNG1 Gene using alignment to 4 proteins:

  • KNG1_HUMAN
  • B4E1C2_HUMAN
  • D3DNU8_HUMAN
  • Q05CF8_HUMAN
genes like me logo Genes that share paralogs with KNG1: view

Variants for KNG1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KNG1 Gene

KNG1_HUMAN-P01042
The T-kinin peptide is missing residues 378 to 380, probably as a result of a naturally occurring variant. The complete sequence of the T-kinin peptide is therefore ISRPPGFSPFR. This peptide is associated with malignant tumors but not with benign ones.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KNG1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs121918131 Pathogenic: Kininogen deficiency, total 186,727,258(+) C/T
NM_001102416.3(KNG1):c.586C>T (p.Arg196Ter)
NONSENSE,INTRON
rs150340694 Likely Benign: not provided 186,731,632(+) A/G
NM_000893.4(KNG1):c.757+3A>G
INTRON
rs1579107719 Not Provided: Hereditary angioedema with normal C1Inh 186,717,458(+) T/A
NM_001102416.3(KNG1):c.-85T>A
FIVE_PRIME_UTR
rs1579116763 Not Provided: Hereditary angioedema with normal C1Inh 186,725,117(+) G/A
NM_001102416.3(KNG1):c.421G>A (p.Asp141Asn)
MISSENSE
rs201005798 Likely Benign: not provided 186,731,619(+) C/T
NM_001102416.3(KNG1):c.747C>T (p.Asp249=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KNG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KNG1 Gene

Variant ID Type Subtype PubMed ID
dgv1435e212 CNV loss 25503493
dgv5004n100 CNV gain 25217958
dgv5005n100 CNV gain 25217958
dgv963e214 CNV loss 21293372
esv2661616 CNV deletion 23128226
esv2669790 CNV deletion 23128226
esv2759206 CNV loss 17122850
esv34136 CNV loss 18971310
esv3569167 CNV loss 25503493
esv3598995 CNV loss 21293372
esv3598996 CNV loss 21293372
nsv1006557 CNV gain 25217958
nsv1012615 CNV gain 25217958
nsv1012712 CNV gain 25217958
nsv1074116 CNV deletion 25765185
nsv1144056 CNV deletion 24896259
nsv592709 CNV loss 21841781
nsv950025 CNV deletion 24416366
nsv998724 CNV loss 25217958
nsv999136 CNV gain 25217958

Variation tolerance for KNG1 Gene

Residual Variation Intolerance Score: 31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.37; 90.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KNG1 Gene

Human Gene Mutation Database (HGMD)
KNG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KNG1
Leiden Open Variation Database (LOVD)
KNG1

SNP Genotyping and Copy Number Assays for research

Disorders for KNG1 Gene

MalaCards: The human disease database

(84) MalaCards diseases for KNG1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
high molecular weight kininogen deficiency
  • hmwk deficiency
angioedema
  • angioneurotic edema
hereditary angioedema
  • hane
brain edema
  • intracranial swelling
c1 inhibitor deficiency
  • quincke edema
- elite association - COSMIC cancer census association via MalaCards
Search KNG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KNG1_HUMAN
  • High molecular weight kininogen deficiency (HMWK deficiency) [MIM:228960]: Autosomal recessive coagulation defect. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface-mediated activation of fibrinolysis. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KNG1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KNG1: view

No data available for Genatlas for KNG1 Gene

Publications for KNG1 Gene

  1. Chromosomal mapping of human kininogen gene (KNG) to 3q26----qter. (PMID: 1733668) Cheung PP … Colman RW (Cytogenetics and cell genetics 1992) 2 3 22
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1-ADIPOQ. (PMID: 20876611) Wu Y … Mohlke KL (Human molecular genetics 2010) 3 40
  5. Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time. (PMID: 20303064) Houlihan LM … Deary IJ (American journal of human genetics 2010) 3 40

Products for KNG1 Gene

Sources for KNG1 Gene