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
  • Kininogen 2
  • BK 3

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. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2014]

GeneCards Summary for KNG1 Gene

KNG1 (Kininogen 1) is a Protein Coding gene. Diseases associated with KNG1 include High Molecular Weight Kininogen Deficiency and Hereditary Angioedema. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. 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

Additional gene information 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 for KNG1 Gene

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 509.8 -0.1 -70 1 SKI TEAD1 FOXA2 NR2F2 KLF9 CEBPB USF1 SAP130 ZBTB33 JUND KNG1 LOC105374258 ENSG00000197099
GH03J186824 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 9.8 +109.3 109332 3.5 ZNF217 NRF1 POLR2G PHF8 ZIC2 POLR2A ZBTB26 TARDBP REST CTBP1 ENSG00000231982 LINC02043 lnc-ADIPOQ-1 SNORA63 SNORA81 SNORA63B EIF4A2 ADIPOQ-AS1 AHSG KNG1
GH03J186752 Promoter/Enhancer 1.2 Ensembl ENCODE 11 +36.8 36829 3.9 ZNF217 CTCF ZSCAN5C FOS TRIM28 TARDBP REST CUX1 CTBP1 EP300 LOC105374259 EIF4A2 KNG1 SNORA63 SNORA63B SNORA81 RFC4 FETUB ENSG00000231724 AHSG
GH03J186663 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 10.2 -52.6 -52568 2.9 FOXK2 EP300 NCOR1 TEAD4 TEAD1 FOXA2 POLR2A NR2F2 ZBTB33 JUND HRG KNG1 FETUB AHSG piR-37567-129 LOC100533663 lnc-HRG-2 LOC105374258 ENSG00000197099
GH03J186640 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 10.5 -76.7 -76708 1.6 NR2F2 FOS JUND STAT3 FOSL2 REST RXRA MAX HNF4A FOXA1 FETUB AHSG KNG1 RFC4 ENSG00000231724 ADIPOQ piR-32285-068 LOC105374258 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for KNG1 Gene
chr3:186,717,309-186,744,410
(GRCh38/hg38)
Size:
27,102 bases
Orientation:
Plus strand
chr3:186,435,065-186,462,199
(GRCh37/hg19)
Size:
27,135 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

Antibody Products

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

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

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:0004869 cysteine-type endopeptidase inhibitor activity IDA,IBA 3488317
GO:0005102 signaling receptor binding IPI 11290596
GO:0005515 protein binding IPI 8710908
GO:0008201 heparin binding NAS 12911595
GO:0008270 zinc ion 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:
  • Kng2 Kng2<tm2a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for KNG1 Gene

miRTarBase miRNAs that target KNG1

Inhibitory RNA Products

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

Clone Products

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
cytosol 3
cytoskeleton 2
peroxisome 2
nucleus 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 TAS,HDA --
GO:0005615 extracellular space IEA,IDA 3488317
GO:0005623 cell IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane 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

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

No data available for SIGNOR curated interactions for KNG1 Gene

Drugs & Compounds for KNG1 Gene

(101) 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 236
Zinc Approved, Investigational Pharma Target 2822
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target 0
Bradykinin Investigational Pharma Full agonist, Agonist Endogenous agonist at bradykinin receptors (B2 > B1) 60

(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 :

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

  • Kidney(4.9)
  • Liver(4.9)
  • Nervous system(4.7)
  • Bone marrow(4)
  • Blood(3.6)
  • Heart(3.6)
  • Muscle(3.3)
  • Intestine(3.2)
  • Lung(3.1)
  • Adrenal gland(2.9)
  • Gall bladder(2.8)
  • Skin(2.5)
  • Pancreas(2.3)
  • Urine(2.1)
  • Eye(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 31 30
  • 99.22 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KNG1 31 30
  • 82.11 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KNG1 31 30
  • 79.97 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kng2 30
  • 73.14 (n)
mouse
(Mus musculus)
Mammalia Kng1 31 30
  • 72.53 (n)
OneToMany
Kng2 17 31
  • 57 (a)
oppossum
(Monodelphis domestica)
Mammalia KNG1 31
  • 34 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KNG1 31
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves KNG1 31 30
  • 53.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KNG1 31
  • 37 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kng1 30
  • 49.29 (n)
zebrafish
(Danio rerio)
Actinopterygii kng1 31
  • 26 (a)
OneToOne
Species where no ortholog for KNG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

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 NONSENSE,INTRON_VARIANT
rs559129841 Uncertain Significance: High molecular weight kininogen deficiency 186,742,258(+) CAGTT/C FRAMESHIFT_VARIANT,INTRON_VARIANT
rs76438938 Benign: not specified 186,743,735(+) C/T NONSENSE,THREE_PRIME_UTR_VARIANT
rs797044429 Affects: High molecular weight kininogen deficiency 186,741,887(+) TA/T FRAMESHIFT_VARIANT,INTRON_VARIANT
rs797044430 Affects: High molecular weight kininogen deficiency 186,741,608(+) A/AC FRAMESHIFT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for KNG1 Gene

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

SNP Genotyping and Copy Number Assay Products

Disorders for KNG1 Gene

MalaCards: The human disease database

(66) MalaCards diseases for KNG1 Gene - From: OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
high molecular weight kininogen deficiency
  • hmwk deficiency
hereditary angioedema
  • hane
brain edema
  • intracranial swelling
angioedema
  • angioneurotic edema
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 mutations affecting the gene represented in this entry.

Additional Disease Information for KNG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 23 54
  2. 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 41 54
  3. 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 41 54
  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 41 54
  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 41 54

Products for KNG1 Gene

Sources for KNG1 Gene