KNG1 (kininogen 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: KNG1 (kininogen 1) Homo sapiens
Analyze
Symbol: KNG1
Name: kininogen 1
RGD ID: 1603713
HGNC Page HGNC:6383
Description: Enables cysteine-type endopeptidase inhibitor activity and signaling receptor binding activity. Involved in several processes, including antimicrobial humoral immune response mediated by antimicrobial peptide; killing of cells of another organism; and negative regulation of blood coagulation. Located in extracellular space. Implicated in hereditary angioedema and high molecular weight kininogen deficiency. Biomarker of Henoch-Schoenlein purpura and neovascular inflammatory vitreoretinopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-2-thiol proteinase inhibitor; BDK; BK; bradykinin; fitzgerald factor; HAE6; high molecular weight kininogen; HK; HMWK; kininogen-1; KNG; williams-Fitzgerald-Flaujeac factor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383186,717,359 - 186,744,410 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3186,717,348 - 186,744,410 (+)EnsemblGRCh38hg38GRCh38
GRCh373186,435,148 - 186,462,199 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363187,917,814 - 187,944,437 (+)NCBINCBI36Build 36hg18NCBI36
Celera3184,871,536 - 184,898,662 (+)NCBICelera
Cytogenetic Map3q27.3NCBI
HuRef3183,844,775 - 183,871,713 (+)NCBIHuRef
CHM1_13186,399,036 - 186,425,781 (+)NCBICHM1_1
T2T-CHM13v2.03189,539,122 - 189,566,165 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1-naphthyl isothiocyanate  (EXP,ISO)
1-octadec-9-enoylglycero-3-phosphate  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2,6-dinitrotoluene  (ISO)
3',5'-cyclic AMP  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-oxoprostaglandin F1alpha  (ISO)
7,12-dimethyltetraphene  (ISO)
7-ketocholesterol  (EXP)
acetylsalicylic acid  (ISO)
aconitine  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
alpha-linolenic acid  (EXP)
ammonium chloride  (ISO)
amphibole asbestos  (ISO)
ampicillin  (ISO)
arachidonic acid  (EXP)
benazepril  (ISO)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bucladesine  (ISO)
cadmium atom  (EXP)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
capsaicin  (EXP,ISO)
carbon nanotube  (ISO)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
chromium trinitrate  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
cobalt atom  (ISO)
cobalt dichloride  (ISO)
compound 48/80  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (ISO)
copper(II) sulfate  (EXP)
cycloheximide  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
doxorubicin  (ISO)
EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor  (EXP)
enalapril  (ISO)
flurbiprofen  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
GW 4064  (EXP)
Hexachloro-1,3-butadiene  (ISO)
histamine  (ISO)
icatibant  (EXP,ISO)
indometacin  (EXP,ISO)
irinotecan  (EXP)
isoflavones  (ISO)
kainic acid  (ISO)
ketamine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lidocaine  (EXP)
lipopolysaccharide  (ISO)
m-xylene  (ISO)
manganese(II) chloride  (ISO)
meloxicam  (ISO)
menadione  (EXP)
mepyramine  (EXP)
methidathion  (ISO)
methotrexate  (ISO)
methyltestosterone  (EXP)
metronidazole  (ISO)
N,O-dimethyltyramine  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nafamostat  (EXP)
nefazodone  (ISO)
neomycin  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
nimesulide  (ISO)
nitric oxide  (EXP,ISO)
nitrofen  (ISO)
nitroglycerin  (ISO)
nitroprusside  (ISO)
O-methyleugenol  (EXP)
olanzapine  (EXP)
oryzalin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parathion  (ISO)
PD123319  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
perindopril  (EXP,ISO)
pirinixic acid  (ISO)
potassium chloride  (ISO)
potassium chromate  (ISO)
potassium dichromate  (ISO)
Pranoprofen  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
propofol  (EXP)
prostaglandin E2  (ISO)
prostaglandin I2  (ISO)
quartz  (ISO)
quercetin  (EXP)
ramipril  (ISO)
ramiprilat  (ISO)
serotonin  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (ISO)
sodium fluoride  (ISO)
staurosporine  (ISO)
stigmasterol  (EXP)
streptozocin  (ISO)
sulforaphane  (ISO)
tauroursodeoxycholic acid  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
Triptolide  (ISO)
U-73122  (ISO)
valproic acid  (EXP,ISO)
valsartan  (ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vinyl carbamate  (ISO)
wortmannin  (ISO)
XL147  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Predicting venous thrombosis in women using a combination of genetic markers and clinical risk factors. Bruzelius M, etal., J Thromb Haemost. 2015 Feb;13(2):219-27. doi: 10.1111/jth.12808. Epub 2015 Jan 12.
2. Genetic basis of total kininogen deficiency in Williams' trait. Cheung PP, etal., J Biol Chem. 1993 Nov 5;268(31):23361-5.
3. P2X3 and P2X2/3 receptors mediate mechanical hyperalgesia induced by bradykinin, but not by pro-inflammatory cytokines, PGE(2) or dopamine. de Oliveira Fusaro MC, etal., Eur J Pharmacol. 2010 Dec 15;649(1-3):177-82. doi: 10.1016/j.ejphar.2010.09.037. Epub 2010 Sep 21.
4. Role of kallikrein-kinin system in pathogenesis of bacterial cell wall-induced inflammation. DeLa Cadena RA, etal., Am J Physiol. 1991 Feb;260(2 Pt 1):G213-9.
5. Higher Serum Angiotensinogen Is an Indicator of IgA Vasculitis with Nephritis Revealed by Comparative Proteomes Analysis. He X, etal., PLoS One. 2015 Jun 22;10(6):e0130536. doi: 10.1371/journal.pone.0130536. eCollection 2015.
6. Variants in the Atherogenic ALOX5AP, THBD, and KNG1 Genes Potentiate the Risk of Ischemic Stroke via a Genetic Main Effect and Epistatic Interactions in a Chinese Population. Hu Z, etal., J Stroke Cerebrovasc Dis. 2015 Sep;24(9):2060-8. doi: 10.1016/j.jstrokecerebrovasdis.2015.04.036. Epub 2015 Jul 7.
7. The kallikrein-kinin system: current and future pharmacological targets. Moreau ME, etal., J Pharmacol Sci. 2005 Sep;99(1):6-38.
8. Effect of plant neutrophil elastase inhibitor on leucocyte migration, adhesion and cytokine release in inflammatory conditions. Oliveira C, etal., Br J Pharmacol. 2010 Oct;161(4):899-910. doi: 10.1111/j.1476-5381.2010.00924.x.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. Bradykinin induces eosinophil accumulation in the rat pleural cavity. Pasquale CP, etal., Int Arch Allergy Appl Immunol. 1991;95(2-3):244-7.
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. Role of the adrenal gland in the leucocytosis caused by bradykinin or cellulose sulphate in the rat. Rothschild AM Br J Pharmacol. 1971 Aug;42(4):631-3.
17. Genetic variation in angiotensin-converting enzyme-related pathways associated with sudden cardiac arrest risk. Sotoodehnia N, etal., Heart Rhythm. 2009 Sep;6(9):1306-14. doi: 10.1016/j.hrthm.2009.06.013. Epub 2009 Jun 9.
18. Analysis of 14 candidate genes for diabetic nephropathy on chromosome 3q in European populations: strongest evidence for association with a variant in the promoter region of the adiponectin gene. Vionnet N, etal., Diabetes. 2006 Nov;55(11):3166-74.
19. Kininogen 1 and insulin-like growth factor binding protein 6: candidate serum biomarkers of proliferative vitreoretinopathy. Yu J, etal., Clin Exp Optom. 2014 Jan;97(1):72-9. doi: 10.1111/cxo.12088. Epub 2013 Jul 1.
Additional References at PubMed
PMID:12173   PMID:291905   PMID:500690   PMID:1202089   PMID:1652157   PMID:1733668   PMID:2066106   PMID:2460446   PMID:2834384   PMID:2989293   PMID:2989294   PMID:3038169  
PMID:3045123   PMID:3182782   PMID:3366244   PMID:3484703   PMID:3488317   PMID:3643793   PMID:3689342   PMID:3936495   PMID:4054110   PMID:4952632   PMID:6406551   PMID:6441591  
PMID:7492318   PMID:7589467   PMID:7686159   PMID:7944388   PMID:8125298   PMID:8253784   PMID:8662705   PMID:8706894   PMID:8710908   PMID:8761966   PMID:8764310   PMID:8807575  
PMID:9269768   PMID:9276160   PMID:9428707   PMID:9459346   PMID:10066772   PMID:10464316   PMID:10845911   PMID:10887113   PMID:11278902   PMID:11290596   PMID:11385996   PMID:11434682  
PMID:11517935   PMID:11677365   PMID:11689005   PMID:11792853   PMID:11920276   PMID:11970955   PMID:12051729   PMID:12071855   PMID:12074933   PMID:12082110   PMID:12090937   PMID:12213329  
PMID:12452440   PMID:12477932   PMID:12492488   PMID:12576314   PMID:12594059   PMID:12663668   PMID:12715893   PMID:12748173   PMID:12754519   PMID:12761213   PMID:12851878   PMID:12887060  
PMID:12911595   PMID:12952972   PMID:14506238   PMID:14517215   PMID:14530218   PMID:14597972   PMID:14629481   PMID:14687935   PMID:14718574   PMID:14760718   PMID:14764580   PMID:15028279  
PMID:15044324   PMID:15086463   PMID:16014619   PMID:16091369   PMID:16140359   PMID:16335952   PMID:16344560   PMID:16502470   PMID:16598774   PMID:16712791   PMID:16754659   PMID:17050061  
PMID:17585065   PMID:17635790   PMID:18000168   PMID:18029348   PMID:18039931   PMID:18083112   PMID:18156442   PMID:18240029   PMID:18330734   PMID:18455532   PMID:18783336   PMID:18810490  
PMID:19056867   PMID:19082699   PMID:19086053   PMID:19126685   PMID:19213944   PMID:19330902   PMID:19584173   PMID:19592120   PMID:19885862   PMID:19913121   PMID:19923143   PMID:19966052  
PMID:20050188   PMID:20303064   PMID:20379614   PMID:20628086   PMID:20876611   PMID:21054968   PMID:21145461   PMID:21270443   PMID:21451024   PMID:21496200   PMID:21527472   PMID:21586566  
PMID:21873635   PMID:21982724   PMID:22516433   PMID:22701019   PMID:22703881   PMID:23000411   PMID:23082758   PMID:23376485   PMID:23505046   PMID:23533145   PMID:23597562   PMID:23672780  
PMID:23874198   PMID:24453475   PMID:24552232   PMID:24688027   PMID:24816252   PMID:24984152   PMID:25037231   PMID:25477429   PMID:25766502   PMID:26186194   PMID:26420021   PMID:26792617  
PMID:26884824   PMID:27068509   PMID:27559042   PMID:28005926   PMID:28053049   PMID:28514442   PMID:28651026   PMID:28675934   PMID:29034546   PMID:30068373   PMID:30478260   PMID:31059006  
PMID:31338581   PMID:31412146   PMID:31473403   PMID:31625351   PMID:31933486   PMID:32114020   PMID:32359101   PMID:32526773   PMID:32707450   PMID:33129885   PMID:33179332   PMID:33827130  
PMID:33961781   PMID:34494203  


Genomics

Comparative Map Data
KNG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383186,717,359 - 186,744,410 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3186,717,348 - 186,744,410 (+)EnsemblGRCh38hg38GRCh38
GRCh373186,435,148 - 186,462,199 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363187,917,814 - 187,944,437 (+)NCBINCBI36Build 36hg18NCBI36
Celera3184,871,536 - 184,898,662 (+)NCBICelera
Cytogenetic Map3q27.3NCBI
HuRef3183,844,775 - 183,871,713 (+)NCBIHuRef
CHM1_13186,399,036 - 186,425,781 (+)NCBICHM1_1
T2T-CHM13v2.03189,539,122 - 189,566,165 (+)NCBIT2T-CHM13v2.0
Kng2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391622,804,602 - 22,847,851 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1622,804,604 - 22,848,232 (-)EnsemblGRCm39 Ensembl
GRCm381622,985,852 - 23,029,101 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1622,985,854 - 23,029,482 (-)EnsemblGRCm38mm10GRCm38
MGSCv371622,985,925 - 23,029,174 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361622,902,680 - 22,944,351 (-)NCBIMGSCv36mm8
Celera1623,545,793 - 23,588,919 (-)NCBICelera
Cytogenetic Map16B1NCBI
Kng2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21177,913,876 - 77,936,247 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1177,909,612 - 78,002,971 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1186,664,319 - 86,686,690 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01179,302,200 - 79,324,460 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01178,378,641 - 78,401,008 (+)NCBIRnor_WKY
Rnor_6.01181,509,185 - 81,516,759 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01184,605,412 - 84,612,986 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41180,109,499 - 80,131,887 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11180,167,317 - 80,189,475 (+)NCBI
Celera1176,789,106 - 76,811,459 (+)NCBICelera
Cytogenetic Map11q23NCBI
Kng1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542020,989,197 - 21,016,084 (-)NCBIChiLan1.0ChiLan1.0
KNG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13192,219,675 - 192,245,318 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3192,219,462 - 192,245,149 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03183,751,598 - 183,778,655 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
KNG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13419,288,629 - 19,318,096 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3419,287,109 - 19,318,081 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3423,373,992 - 23,403,581 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03419,199,856 - 19,229,431 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3419,199,904 - 19,229,419 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13419,231,763 - 19,260,578 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03419,231,843 - 19,260,884 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03419,460,203 - 19,488,753 (+)NCBIUU_Cfam_GSD_1.0
Kng1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602117,161,767 - 117,189,596 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365783,253,749 - 3,281,296 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365783,255,335 - 3,281,296 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KNG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13124,521,340 - 124,557,958 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113124,521,276 - 124,557,384 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213133,911,227 - 133,947,757 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KNG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11581,002,287 - 81,027,893 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604154,492,596 - 54,518,121 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kng1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473070,022,449 - 70,065,115 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KNG1
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001102416.3(KNG1):c.1493del (p.Lys498fs) deletion High molecular weight kininogen deficiency [RCV000000603] Chr3:186741888 [GRCh38]
Chr3:186459677 [GRCh37]
Chr3:3q27.3
pathogenic|affects
NM_001102416.3(KNG1):c.1126-538_1126-512delinsGGTGGTGGTGGTGGTGGTTTGTTTTTGG indel High molecular weight kininogen deficiency [RCV000000604] Chr3:186740984..186741010 [GRCh38]
Chr3:186458773..186458799 [GRCh37]
Chr3:3q27.3
pathogenic|affects
NM_001102416.3(KNG1):c.1216dup (p.His406fs) duplication High molecular weight kininogen deficiency [RCV000000605] Chr3:186741608..186741609 [GRCh38]
Chr3:186459397..186459398 [GRCh37]
Chr3:3q27.3
pathogenic|affects
NM_001102416.3(KNG1):c.586C>T (p.Arg196Ter) single nucleotide variant Kininogen deficiency, total [RCV000000602] Chr3:186727258 [GRCh38]
Chr3:186445047 [GRCh37]
Chr3:3q27.3
pathogenic
GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1 copy number loss See cases [RCV000051607] Chr3:182678453..188418928 [GRCh38]
Chr3:182396241..188136716 [GRCh37]
Chr3:183878935..189619410 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29
pathogenic
GRCh38/hg38 3q27.2-28(chr3:186204253-192214251)x1 copy number loss See cases [RCV000051609] Chr3:186204253..192214251 [GRCh38]
Chr3:185922042..191932040 [GRCh37]
Chr3:187404736..193414734 [NCBI36]
Chr3:3q27.2-28
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_000893.3(KNG1):c.243G>A (p.Gly81=) single nucleotide variant Malignant melanoma [RCV000065964] Chr3:186720152 [GRCh38]
Chr3:186437941 [GRCh37]
Chr3:187920635 [NCBI36]
Chr3:3q27.3
not provided
NM_000893.3(KNG1):c.840G>A (p.Glu280=) single nucleotide variant Malignant melanoma [RCV000060781] Chr3:186732584 [GRCh38]
Chr3:186450373 [GRCh37]
Chr3:187933067 [NCBI36]
Chr3:3q27.3
not provided
NM_001102416.3(KNG1):c.1720C>G (p.Pro574Ala) single nucleotide variant Angioedema, hereditary, 6 [RCV001507297] Chr3:186742116 [GRCh38]
Chr3:186459905 [GRCh37]
Chr3:3q27.3
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic|likely benign
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3 copy number gain See cases [RCV000139009] Chr3:184843627..187461008 [GRCh38]
Chr3:184561415..187178796 [GRCh37]
Chr3:186044109..188661490 [NCBI36]
Chr3:3q27.2-27.3
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28
likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
CM000665.1:g.186411076_186494422dup duplication Normal pregnancy [RCV000161329] Chr3:186693287..186776633 [GRCh38]
Chr3:186411076..186494422 [GRCh37]
Chr3:3q27.3
not provided
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1 copy number loss See cases [RCV000240447] Chr3:186291045..191037240 [GRCh37]
Chr3:3q27.3-28
pathogenic
GRCh37/hg19 3q27.1-28(chr3:183556940-188083060) copy number loss Short stature [RCV002280742] Chr3:183556940..188083060 [GRCh37]
Chr3:3q27.1-28
pathogenic
NM_001102416.3(KNG1):c.162T>G (p.Phe54Leu) single nucleotide variant Thrombus [RCV002280930] Chr3:186717704 [GRCh38]
Chr3:186435493 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_001102416.3(KNG1):c.1866_1869del (p.Ser623fs) deletion High molecular weight kininogen deficiency [RCV000490309] Chr3:186742259..186742262 [GRCh38]
Chr3:186460048..186460051 [GRCh37]
Chr3:3q27.3
uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1 copy number loss See cases [RCV000448264] Chr3:185419048..186575415 [GRCh37]
Chr3:3q27.2-27.3
pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)x1 copy number loss See cases [RCV000448937] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
NM_001102416.3(KNG1):c.*1404C>T single nucleotide variant not specified [RCV000454619] Chr3:186743735 [GRCh38]
Chr3:186461524 [GRCh37]
Chr3:3q27.3
benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NC_000003.11:g.(?_186256465)_(186980528_?)del deletion 3MC syndrome 1 [RCV000638455] Chr3:186256465..186980528 [GRCh37]
Chr3:3q27.3
pathogenic|likely pathogenic
GRCh37/hg19 3q27.1-28(chr3:184300169-188285627) copy number loss Short stature [RCV000626533] Chr3:184300169..188285627 [GRCh37]
Chr3:3q27.1-28
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28
pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29
pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29
pathogenic
GRCh37/hg19 3q27.3-28(chr3:186018854-189514047)x1 copy number loss not provided [RCV000743033] Chr3:186018854..189514047 [GRCh37]
Chr3:3q27.3-28
pathogenic
GRCh37/hg19 3q27.3(chr3:186328121-186494422)x3 copy number gain not provided [RCV000743036] Chr3:186328121..186494422 [GRCh37]
Chr3:3q27.3
benign
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29
pathogenic
NC_000003.11:g.(?_186256465)_(187009440_?)del deletion 3MC syndrome 1 [RCV001033360] Chr3:186256465..187009440 [GRCh37]
Chr3:3q27.3
pathogenic
NM_001102416.3(KNG1):c.757+3A>G single nucleotide variant not provided [RCV000894817] Chr3:186731632 [GRCh38]
Chr3:186449421 [GRCh37]
Chr3:3q27.3
likely benign
NM_001102416.3(KNG1):c.747C>T (p.Asp249=) single nucleotide variant not provided [RCV000905800] Chr3:186731619 [GRCh38]
Chr3:186449408 [GRCh37]
Chr3:3q27.3
likely benign
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28
pathogenic
NM_001102416.3(KNG1):c.-85T>A single nucleotide variant Hereditary angioedema with normal C1Inh [RCV001027410] Chr3:186717458 [GRCh38]
Chr3:186435247 [GRCh37]
Chr3:3q27.3
not provided
NM_001102416.3(KNG1):c.421G>A (p.Asp141Asn) single nucleotide variant Hereditary angioedema with normal C1Inh [RCV001027411] Chr3:186725117 [GRCh38]
Chr3:186442906 [GRCh37]
Chr3:3q27.3
not provided
GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1 copy number loss not provided [RCV001005497] Chr3:185879162..187446035 [GRCh37]
Chr3:3q27.2-27.3
pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1 copy number loss not provided [RCV001259730] Chr3:182877291..186830759 [GRCh37]
Chr3:3q27.1-27.3
pathogenic
NM_001102416.3(KNG1):c.1234G>A (p.Ala412Thr) single nucleotide variant not provided [RCV001356413] Chr3:186741630 [GRCh38]
Chr3:186459419 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_001102416.3(KNG1):c.1136T>A (p.Met379Lys) single nucleotide variant Angioedema, hereditary, 6 [RCV001507296] Chr3:186741532 [GRCh38]
Chr3:186459321 [GRCh37]
Chr3:3q27.3
pathogenic
GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3 copy number gain not provided [RCV001795540] Chr3:175119199..187592480 [GRCh37]
Chr3:3q26.31-27.3
pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042) copy number loss not specified [RCV002053395] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3
pathogenic
GRCh37/hg19 3q27.3(chr3:186149060-186599706) copy number loss not specified [RCV002053397] Chr3:186149060..186599706 [GRCh37]
Chr3:3q27.3
uncertain significance
GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935) copy number loss not specified [RCV002053393] Chr3:182189525..187212935 [GRCh37]
Chr3:3q26.33-27.3
pathogenic
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29
likely pathogenic
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29
pathogenic
NM_001102416.3(KNG1):c.1165C>T (p.Arg389Ter) single nucleotide variant High molecular weight kininogen deficiency [RCV002467396] Chr3:186741561 [GRCh38]
Chr3:186459350 [GRCh37]
Chr3:3q27.3
pathogenic
GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1 copy number loss not provided [RCV002474891] Chr3:184170962..188047867 [GRCh37]
Chr3:3q27.1-28
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:794
Count of miRNA genes:531
Interacting mature miRNAs:574
Transcripts:ENST00000265023, ENST00000287611, ENST00000447445
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D3S3899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,461,573 - 186,461,716UniSTSGRCh37
Build 363187,944,267 - 187,944,410RGDNCBI36
Celera3184,898,036 - 184,898,179RGD
Cytogenetic Map3q27UniSTS
HuRef3183,871,087 - 183,871,230UniSTS
TNG Radiation Hybrid Map347013.0UniSTS
Stanford-G3 RH Map38161.0UniSTS
NCBI RH Map31858.0UniSTS
GeneMap99-G3 RH Map38631.0UniSTS
RH102978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,461,845 - 186,461,990UniSTSGRCh37
Build 363187,944,539 - 187,944,684RGDNCBI36
Celera3184,898,308 - 184,898,453RGD
Cytogenetic Map3q27UniSTS
HuRef3183,871,359 - 183,871,504UniSTS
GeneMap99-GB4 RH Map3700.45UniSTS
GDB:181214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,459,840 - 186,460,231UniSTSGRCh37
Build 363187,942,534 - 187,942,925RGDNCBI36
Celera3184,896,303 - 184,896,694RGD
Cytogenetic Map3q27UniSTS
HuRef3183,869,354 - 183,869,745UniSTS
STS-M11437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,461,584 - 186,461,721UniSTSGRCh37
Build 363187,944,278 - 187,944,415RGDNCBI36
Celera3184,898,047 - 184,898,184RGD
Cytogenetic Map3q27UniSTS
HuRef3183,871,098 - 183,871,235UniSTS
TNG Radiation Hybrid Map347007.0UniSTS
GeneMap99-GB4 RH Map3700.45UniSTS
SHGC-35523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,460,203 - 186,460,403UniSTSGRCh37
Build 363187,942,897 - 187,943,097RGDNCBI36
Celera3184,896,666 - 184,896,866RGD
Cytogenetic Map3q27UniSTS
HuRef3183,869,717 - 183,869,917UniSTS
Stanford-G3 RH Map38155.0UniSTS
GeneMap99-GB4 RH Map3700.76UniSTS
Whitehead-RH Map3854.5UniSTS
NCBI RH Map31883.3UniSTS
GeneMap99-G3 RH Map38625.0UniSTS
D3S3935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,461,623 - 186,461,724UniSTSGRCh37
Build 363187,944,317 - 187,944,418RGDNCBI36
Celera3184,898,086 - 184,898,187RGD
Cytogenetic Map3q27UniSTS
HuRef3183,871,137 - 183,871,238UniSTS
GeneMap99-GB4 RH Map3701.17UniSTS
Whitehead-RH Map3855.8UniSTS
Whitehead-YAC Contig Map3 UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 129 129 129 12
Medium 4 8 301 301 7 301 163 6 3 2
Low 140 122 36 18 138 18 23 15 99 62 60 33 22 12
Below cutoff 1382 1798 853 105 1078 4 2145 1169 2212 81 931 958 104 675 1296 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001102416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC109780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI133186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY248697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG430928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB148843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD014130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA537547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC362362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC918468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000287611   ⟹   ENSP00000287611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3186,717,359 - 186,744,410 (+)Ensembl
RefSeq Acc Id: ENST00000447445   ⟹   ENSP00000396025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3186,717,348 - 186,743,805 (+)Ensembl
RefSeq Acc Id: ENST00000644859   ⟹   ENSP00000493985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3186,717,359 - 186,744,410 (+)Ensembl
RefSeq Acc Id: ENST00000645544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3186,717,400 - 186,720,609 (+)Ensembl
RefSeq Acc Id: NM_000893   ⟹   NP_000884
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,717,359 - 186,744,410 (+)NCBI
GRCh373186,435,098 - 186,462,199 (+)ENTREZGENE
Build 363187,917,814 - 187,944,437 (+)NCBI Archive
HuRef3183,844,775 - 183,871,713 (+)ENTREZGENE
CHM1_13186,399,036 - 186,425,781 (+)NCBI
T2T-CHM13v2.03189,539,122 - 189,566,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001102416   ⟹   NP_001095886
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,717,359 - 186,744,410 (+)NCBI
GRCh373186,435,098 - 186,462,199 (+)ENTREZGENE
Build 363187,917,814 - 187,942,814 (+)NCBI Archive
HuRef3183,844,775 - 183,871,713 (+)ENTREZGENE
CHM1_13186,399,036 - 186,424,265 (+)NCBI
T2T-CHM13v2.03189,539,122 - 189,566,165 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001166451   ⟹   NP_001159923
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,717,359 - 186,744,410 (+)NCBI
GRCh373186,435,098 - 186,462,199 (+)ENTREZGENE
HuRef3183,844,775 - 183,871,713 (+)ENTREZGENE
CHM1_13186,399,036 - 186,425,781 (+)NCBI
T2T-CHM13v2.03189,539,122 - 189,566,165 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000884   ⟸   NM_000893
- Peptide Label: isoform 2 precursor
- UniProtKB: P01042 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001159923   ⟸   NM_001166451
- Peptide Label: isoform 3 precursor
- UniProtKB: P01042 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001095886   ⟸   NM_001102416
- Peptide Label: isoform 1 precursor
- UniProtKB: Q7M4P1 (UniProtKB/Swiss-Prot),   P01042 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000287611   ⟸   ENST00000287611
RefSeq Acc Id: ENSP00000396025   ⟸   ENST00000447445
RefSeq Acc Id: ENSP00000493985   ⟸   ENST00000644859
Protein Domains
Cystatin kininogen-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01042-F1-model_v2 AlphaFold P01042 1-644 view protein structure

Promoters
RGD ID:6866542
Promoter ID:EPDNEW_H6436
Type:initiation region
Name:KNG1_1
Description:kininogen 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,717,410 - 186,717,470EPDNEW
RGD ID:6853370
Promoter ID:EP74510
Type:initiation region
Name:HS_KNG
Description:Kininogen.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 363187,917,893 - 187,917,953EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6383 AgrOrtholog
COSMIC KNG1 COSMIC
Ensembl Genes ENSG00000113889 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000287611 ENTREZGENE
  ENSP00000287611.2 UniProtKB/Swiss-Prot
  ENSP00000396025 ENTREZGENE
  ENSP00000396025.1 UniProtKB/Swiss-Prot
  ENSP00000493985 ENTREZGENE
  ENSP00000493985.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000287611 ENTREZGENE
  ENST00000287611.8 UniProtKB/Swiss-Prot
  ENST00000447445 ENTREZGENE
  ENST00000447445.1 UniProtKB/Swiss-Prot
  ENST00000644859 ENTREZGENE
  ENST00000644859.2 UniProtKB/Swiss-Prot
GTEx ENSG00000113889 GTEx
HGNC ID HGNC:6383 ENTREZGENE
Human Proteome Map KNG1 Human Proteome Map
InterPro Cystatin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cystatin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kininogen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kininogen-type_cystatin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_inh_cystat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3827 UniProtKB/Swiss-Prot
NCBI Gene 3827 ENTREZGENE
OMIM 228960 OMIM
  612358 OMIM
  619363 OMIM
Pfam Cystatin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB KNG1 RGD, PharmGKB
PRINTS KININOGEN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYSTATIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYSTATIN_KININOGEN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00043 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4E1C2_HUMAN UniProtKB/TrEMBL
  D3DNU8_HUMAN UniProtKB/TrEMBL
  KNG1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q05CF8_HUMAN UniProtKB/TrEMBL
  Q7M4P1 ENTREZGENE
UniProt Secondary A8K474 UniProtKB/Swiss-Prot
  B2RCR2 UniProtKB/Swiss-Prot
  C9JEX1 UniProtKB/Swiss-Prot
  P01043 UniProtKB/Swiss-Prot
  Q53EQ0 UniProtKB/Swiss-Prot
  Q6PAU9 UniProtKB/Swiss-Prot
  Q7M4P1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 KNG1  kininogen 1  BDK  bradykinin  Data Merged 737654 PROVISIONAL
2011-07-27 KNG1  kininogen 1  KNG1  kininogen 1  Symbol and/or name change 5135510 APPROVED