KDR (kinase insert domain receptor) - Rat Genome Database

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Gene: KDR (kinase insert domain receptor) Homo sapiens
Symbol: KDR
Name: kinase insert domain receptor
RGD ID: 731018
Description: Enables several functions, including cell adhesion molecule binding activity; vascular endothelial growth factor binding activity; and vascular endothelial growth factor receptor activity. Involved in several processes, including intracellular signal transduction; positive regulation of endothelial cell migration; and protein phosphorylation. Acts upstream of or within several processes, including branching involved in blood vessel morphogenesis; positive regulation of mitochondrial depolarization; and positive regulation of mitochondrial fission. Located in several cellular components, including Golgi apparatus; endosome; and membrane raft. Is integral component of plasma membrane. Implicated in several diseases, including artery disease (multiple); breast angiosarcoma; gastrointestinal system cancer (multiple); macular degeneration (multiple); and pancreatic cancer (multiple). Biomarker of several diseases, including brain disease (multiple); breast cancer (multiple); carcinoma (multiple); eye disease (multiple); and systemic scleroderma (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD309; fetal liver kinase 1; fetal liver kinase-1; FLK1; kinase insert domain receptor (a type III receptor tyrosine kinase); protein-tyrosine kinase receptor Flk-1; soluble VEGFR2; tyrosine kinase growth factor receptor; vascular endothelial growth factor receptor 2; VEGFR; VEGFR2
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38455,078,481 - 55,125,595 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl455,078,481 - 55,125,595 (-)EnsemblGRCh38hg38GRCh38
GRCh37455,944,648 - 55,991,762 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36455,639,406 - 55,686,519 (-)NCBINCBI36hg18NCBI36
Build 34455,785,576 - 55,832,690NCBI
Celera453,446,341 - 53,493,673 (-)NCBI
Cytogenetic Map4q12NCBI
HuRef451,893,013 - 51,940,346 (-)NCBIHuRef
CHM1_1455,979,683 - 56,027,015 (-)NCBICHM1_1
T2T-CHM13v2.0458,566,962 - 58,614,067 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
Acute Lung Injury  (ISO)
adenocarcinoma  (EXP)
adhesions of uterus  (IEP,ISO)
allergic contact dermatitis  (IEP)
amyotrophic lateral sclerosis  (IEP)
angiosarcoma  (EXP)
Animal Mammary Neoplasms  (ISO)
arteriosclerosis  (IEP,ISO)
arteriovenous malformations of the brain  (IEP)
asthma  (IEP,ISO)
atherosclerosis  (ISO)
brain glioma  (IEP)
Brain Injuries  (ISO)
brain ischemia  (ISO)
breast angiosarcoma  (IAGP)
breast cancer  (IEP)
breast carcinoma  (IEP)
Breast Neoplasms  (EXP,ISO)
cerebral cavernous malformation  (IEP)
Cerebral Hemorrhage  (EXP)
Choroidal Neovascularization  (IDA,ISO)
chronic obstructive pulmonary disease  (IEP)
colitis  (ISO)
colon carcinoma  (IAGP,ISO)
Colonic Neoplasms  (ISO)
colorectal adenocarcinoma  (IDA,IMP)
colorectal cancer  (IAGP)
Colorectal Neoplasms  (EXP)
contact dermatitis  (ISO)
corneal neovascularization  (ISO)
Coronary Disease  (IEP)
Crohn's disease  (IEP)
cystitis  (ISO)
decubitus ulcer  (IEP)
Diabetic Nephropathies  (EXP)
diffuse scleroderma  (IEP)
Endometrial Neoplasms  (IEP)
Endometrioid Carcinomas  (IEP)
endometriosis  (ISO)
Esophageal Neoplasms  (EXP)
esophagus adenocarcinoma  (IAGP)
Experimental Autoimmune Encephalomyelitis  (ISO)
Experimental Colitis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Neoplasms  (EXP)
glioblastoma  (IMP)
Hand-Foot Syndrome  (IAGP)
hepatoblastoma  (IAGP)
hepatocellular carcinoma  (IAGP,IEP)
herpes simplex virus keratitis  (ISO)
high grade glioma  (IEP,ISO)
High Myopia  (IAGP)
Hirschsprung's disease  (IAGP)
hydrophthalmos  (ISO)
hypertension  (IAGP,ISO)
Hypoxia-Ischemia, Brain  (ISO)
impotence  (ISO)
Infantile Capillary Hemangioma  (IAGP)
inverted papilloma  (IEP)
Kidney Neoplasms  (ISO)
Kuhnt-Junius degeneration  (IAGP)
Lathyrism  (ISO)
limited scleroderma  (IEP)
liver cirrhosis  (IEP)
lung carcinoma  (ISO)
lung non-small cell carcinoma  (IAGP,IEP,ISO)
lymphangioma  (IEP)
Lymphatic Metastasis  (ISO)
macular degeneration  (IAGP,ISO)
macular retinal edema  (IEP)
Mammary Neoplasms, Experimental  (IMP,ISO)
melanoma  (IEP,ISO)
myocardial infarction  (IDA,ISO)
Myocardial Ischemia  (EXP)
Nasal Polyps  (IEP)
nasopharynx carcinoma  (IEP)
Neoplasm Metastasis  (IEP)
Neovascularization, Pathologic  (EXP)
Neuralgia  (ISO)
neurilemmoma  (IEP)
neurofibrosarcoma  (ISO)
osteochondrodysplasia  (EXP)
Otitis Media with Effusion  (ISO)
ovarian hyperstimulation syndrome  (ISO)
Ovarian Neoplasms  (IEP)
Oxygen-Induced Retinopathy  (ISO)
pancreatic cancer  (EXP,IDA)
pancreatic carcinoma  (IMP)
primary ovarian insufficiency  (IAGP)
prostate adenocarcinoma  (IEP,ISO)
prostate cancer  (IAGP)
prostatic hypertrophy  (ISO)
psoriasis  (IEP,ISO)
pterygium  (IEP)
renal cell carcinoma  (ISO)
Reperfusion Injury  (EXP,ISO)
retinal telangiectasia  (IEP)
retinopathy of prematurity  (IEP,ISO)
salivary gland carcinoma  (IEP)
sarcoma  (IEP)
schizophrenia  (EXP)
Seasonal Allergic Rhinitis  (IEP)
Spinal Cord Injuries  (ISO)
squamous cell carcinoma  (ISO)
stomach cancer  (IAGP)
Stroke  (ISO)
systemic scleroderma  (IEP)
temporal lobe epilepsy  (EXP)
thyroid gland carcinoma  (IEP)
tongue squamous cell carcinoma  (ISO)
transitional cell carcinoma  (IEP)
Transplant Rejection  (ISO)
Tufted Angioma  (IAGP)
type 2 diabetes mellitus  (IEP)
ulcerative colitis  (IEP)
uremia  (EXP)
urinary bladder cancer  (IEP,IMP)
Uterine Cervical Neoplasms  (IEP)
uveal melanoma  (IEP)
Venous Thrombosis  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-benzoquinone  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,3-Bis(3-hydroxybenzyl)butane-1,4-diol  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3'-diindolylmethane  (EXP)
3,5,6-trichloro-2-pyridinol  (ISO)
3,5,6-trichloropyridine-2-one  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (ISO)
5-fluorouracil  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (ISO)
andrographolide  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
aspartame  (EXP)
Auriculasin  (EXP)
belinostat  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzylpenicillin  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (EXP)
bisphenol F  (ISO)
bortezomib  (EXP)
cadmium atom  (EXP)
calcidiol  (ISO)
calcitriol  (ISO)
calcium atom  (EXP,ISO)
calcium silicate  (EXP)
calcium(0)  (EXP,ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
clozapine  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
coumarin  (EXP)
crocidolite asbestos  (EXP)
curcumin  (EXP,ISO)
Curcumol  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
D-glucose  (EXP,ISO)
deguelin  (EXP)
demethoxycurcumin  (EXP)
desferrioxamine B  (EXP)
diarsenic trioxide  (EXP)
diethylstilbestrol  (ISO)
dioscin  (EXP)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
embelin  (EXP)
enalapril  (ISO)
Enterolactone  (ISO)
entinostat  (EXP,ISO)
ethanol  (ISO)
ethyl trans-caffeate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
fumonisin B1  (ISO)
furosemide  (ISO)
galaxolide  (EXP)
gefitinib  (ISO)
genistein  (ISO)
gentamycin  (ISO)
geraniol  (ISO)
glafenine  (ISO)
glucose  (EXP,ISO)
glycidol  (ISO)
glyphosate  (EXP)
haloperidol  (EXP)
hexachlorobenzene  (EXP)
indoles  (ISO)
isoprenaline  (ISO)
L-ascorbic acid  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lithium chloride  (ISO)
losartan  (ISO)
medroxyprogesterone acetate  (EXP)
melatonin  (EXP)
melittin  (EXP)
methoxychlor  (ISO)
methyl caffeate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
mifepristone  (ISO)
monocrotaline  (ISO)
monosodium L-glutamate  (ISO)
N-acetyl-L-cysteine  (EXP)
N-acetylsphingosine  (EXP,ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (ISO)
nicotine  (ISO)
nicotinic acid  (ISO)
O-methyleugenol  (EXP)
omeprazole  (ISO)
orantinib  (EXP)
orlistat  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
p-menthan-3-ol  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
PD123319  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenylephrine  (ISO)
phenytoin  (ISO)
phosgene  (ISO)
pirinixic acid  (ISO)
platycodin D  (EXP)
ponatinib  (EXP)
Ponicidin  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP,ISO)
quercetin  (EXP)
quercitrin  (EXP)
quinazolines  (EXP)
resveratrol  (EXP)
riddelliine  (ISO)
rosuvastatin calcium  (ISO)
rotenone  (ISO)
saccharin  (ISO)
sarpogrelate  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP)
sorafenib  (EXP)
sphingosine 1-phosphate  (EXP)
streptozocin  (ISO)
sunitinib  (EXP)
superoxide  (EXP)
tanespimycin  (EXP,ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tunicamycin  (ISO)
undecane  (ISO)
urea  (EXP)
urethane  (ISO)
valproic acid  (EXP,ISO)
valsartan  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
WIN 55212-2  (ISO)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aging  (ISO)
angiogenesis  (IBA,IEA,TAS)
blood vessel endothelial cell differentiation  (IEA,ISO)
branching involved in blood vessel morphogenesis  (IMP)
branching morphogenesis of an epithelial tube  (IEA,ISO)
calcium ion homeostasis  (IEA,ISO)
calcium-mediated signaling using intracellular calcium source  (IMP)
cell differentiation  (IEA)
cell fate commitment  (IEA,ISO)
cell maturation  (IEA)
cell migration  (IBA,IEA,ISO)
cell migration involved in sprouting angiogenesis  (IEA,ISS)
cellular response to hydrogen sulfide  (IDA)
cellular response to vascular endothelial growth factor stimulus  (IDA,IMP)
embryonic hemopoiesis  (IEA,ISS)
endocardium development  (IEA)
endochondral bone growth  (ISO)
endothelial cell differentiation  (IBA,IEA,ISO)
endothelial tube morphogenesis  (ISO)
endothelium development  (IEA,ISS)
epithelial cell maturation  (IEA,ISO)
epithelial cell proliferation  (IEA,ISO)
ERK1 and ERK2 cascade  (IMP)
hematopoietic progenitor cell differentiation  (IBA)
hemopoiesis  (IEA,ISO)
lung alveolus development  (IEA,ISO)
lung development  (IEA,ISO)
lymph vessel development  (IEA,ISO)
male gonad development  (ISO)
mesenchymal cell proliferation  (IEA,ISO)
negative regulation of apoptotic process  (IMP)
negative regulation of endothelial cell apoptotic process  (IDA)
negative regulation of gene expression  (IDA)
negative regulation of neuron apoptotic process  (IEA,ISO)
negative regulation of systemic arterial blood pressure  (ISO)
neuron projection morphogenesis  (ISO)
ovarian follicle development  (IEA,ISO)
peptidyl-tyrosine autophosphorylation  (IEA,ISS)
peptidyl-tyrosine phosphorylation  (IDA,IEA)
phosphorylation  (IEA)
positive regulation of angiogenesis  (IBA,IEA,IMP,ISO)
positive regulation of blood vessel endothelial cell migration  (IMP)
positive regulation of BMP signaling pathway  (IEA)
positive regulation of calcium-mediated signaling  (ISO)
positive regulation of cell migration  (IDA,IEA,IMP,ISO)
positive regulation of cell migration involved in sprouting angiogenesis  (IMP)
positive regulation of cell population proliferation  (IDA,IEA,IMP,ISO)
positive regulation of cytosolic calcium ion concentration  (ISO)
positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway  (IDA)
positive regulation of endothelial cell migration  (IMP)
positive regulation of endothelial cell proliferation  (IMP,ISO)
positive regulation of epithelial cell proliferation  (IEA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IMP)
positive regulation of focal adhesion assembly  (IDA)
positive regulation of kinase activity  (IBA)
positive regulation of long-term neuronal synaptic plasticity  (ISO)
positive regulation of macroautophagy  (IGI)
positive regulation of MAPK cascade  (IDA,IEA)
positive regulation of mesenchymal cell proliferation  (IEA,ISO)
positive regulation of mitochondrial depolarization  (IGI)
positive regulation of mitochondrial fission  (IGI)
positive regulation of neurogenesis  (ISO)
positive regulation of nitric-oxide synthase biosynthetic process  (IDA,IMP)
positive regulation of phosphatidylinositol 3-kinase signaling  (IDA,ISO)
positive regulation of phosphorylation  (IEA)
positive regulation of positive chemotaxis  (IDA)
positive regulation of protein phosphorylation  (IDA)
positive regulation of stem cell proliferation  (IEA,ISO)
positive regulation of TOR signaling  (ISO)
positive regulation of vasculogenesis  (IEA,ISS)
post-embryonic camera-type eye morphogenesis  (IEA,ISO)
protein autophosphorylation  (IDA,IEA,ISO)
protein kinase B signaling  (IMP)
protein phosphorylation  (IEA)
regulation of bone development  (IEA,ISO)
regulation of cell shape  (IDA)
regulation of hematopoietic progenitor cell differentiation  (IEA,ISO)
regulation of primary metabolic process  (IEA)
response to axon injury  (ISO)
response to hypoxia  (ISO)
response to oxygen levels  (ISO)
response to xenobiotic stimulus  (ISO)
semaphorin-plexin signaling pathway  (IEA)
stem cell proliferation  (IEA,ISO)
surfactant homeostasis  (IEA,ISO)
transmembrane receptor protein tyrosine kinase signaling pathway  (IBA,IEA,TAS)
vascular endothelial growth factor receptor signaling pathway  (IDA,IEA,IMP,ISO,TAS)
vascular endothelial growth factor receptor-2 signaling pathway  (IMP)
vascular endothelial growth factor signaling pathway  (IMP)
vascular wound healing  (IMP)
vasculogenesis  (IEA,ISO,ISS)
vasodilation  (ISO)

Cellular Component


References - curated
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PMID:24686084   PMID:24687381   PMID:24713547   PMID:24738074   PMID:24845798   PMID:24863063   PMID:24880751   PMID:24886133   PMID:24903995   PMID:24952635   PMID:24952732   PMID:24982127  
PMID:25025175   PMID:25111127   PMID:25111568   PMID:25114179   PMID:25123269   PMID:25128562   PMID:25128838   PMID:25147336   PMID:25182240   PMID:25187647   PMID:25192841   PMID:25217645  
PMID:25217984   PMID:25245329   PMID:25261665   PMID:25269419   PMID:25293577   PMID:25322777   PMID:25329517   PMID:25331892   PMID:25340839   PMID:25353068   PMID:25354586   PMID:25378411  
PMID:25387128   PMID:25399804   PMID:25411163   PMID:25441661   PMID:25471788   PMID:25488616   PMID:25501707   PMID:25521357   PMID:25521758   PMID:25550804   PMID:25560472   PMID:25569182  
PMID:25644401   PMID:25657827   PMID:25682871   PMID:25698653   PMID:25707392   PMID:25713439   PMID:25738571   PMID:25754303   PMID:25756047   PMID:25775978   PMID:25787923   PMID:25810250  
PMID:25825981   PMID:25872462   PMID:25878330   PMID:25883000   PMID:25893857   PMID:25895461   PMID:25896473   PMID:25909285   PMID:25948043   PMID:25967108   PMID:25970161   PMID:25971967  
PMID:25976977   PMID:25978354   PMID:25979342   PMID:25986862   PMID:26014518   PMID:26021484   PMID:26021863   PMID:26028346   PMID:26037503   PMID:26059764   PMID:26080815   PMID:26081139  
PMID:26093379   PMID:26126033   PMID:26137585   PMID:26169036   PMID:26174951   PMID:26191229   PMID:26199386   PMID:26211596   PMID:26254223   PMID:26259755   PMID:26268996   PMID:26298629  
PMID:26307753   PMID:26337470   PMID:26345385   PMID:26375674   PMID:26420897   PMID:26459253   PMID:26476544   PMID:26496610   PMID:26510548   PMID:26541778   PMID:26577922   PMID:26600200  
PMID:26600539   PMID:26619847   PMID:26627848   PMID:26631613   PMID:26653034   PMID:26655705   PMID:26671532   PMID:26709129   PMID:26726843   PMID:26735859   PMID:26783205   PMID:26853422  
PMID:26866667   PMID:26879375   PMID:26881237   PMID:26890264   PMID:26902100   PMID:26909862   PMID:26934556   PMID:26935904   PMID:26940611   PMID:26967562   PMID:26981634   PMID:26993523  
PMID:27044328   PMID:27052314   PMID:27052508   PMID:27059553   PMID:27075652   PMID:27075925   PMID:27143427   PMID:27151212   PMID:27163696   PMID:27163716   PMID:27165081   PMID:27175642  
PMID:27178307   PMID:27221921   PMID:27248821   PMID:27298320   PMID:27365461   PMID:27401249   PMID:27420801   PMID:27426958   PMID:27438146   PMID:27438154   PMID:27453397   PMID:27461391  
PMID:27484635   PMID:27517319   PMID:27569654   PMID:27589831   PMID:27590851   PMID:27626484   PMID:27645229   PMID:27656109   PMID:27713170   PMID:27756875   PMID:27789775   PMID:27833959  
PMID:27834687   PMID:27836223   PMID:27836681   PMID:27837630   PMID:27846250   PMID:27872190   PMID:27922668   PMID:27930691   PMID:27989785   PMID:27999191   PMID:28011500   PMID:28026128  
PMID:28040437   PMID:28065597   PMID:28069703   PMID:28088809   PMID:28122380   PMID:28159803   PMID:28178265   PMID:28183800   PMID:28193911   PMID:28203682   PMID:28218664   PMID:28220020  
PMID:28271280   PMID:28275303   PMID:28283889   PMID:28303365   PMID:28315681   PMID:28339363   PMID:28358369   PMID:28401369   PMID:28410224   PMID:28424170   PMID:28467484   PMID:28478454  
PMID:28489720   PMID:28537244   PMID:28601637   PMID:28609170   PMID:28621236   PMID:28627623   PMID:28637396   PMID:28665417   PMID:28680264   PMID:28687357   PMID:28718364   PMID:28783175  
PMID:28812437   PMID:28847506   PMID:28854900   PMID:28865413   PMID:28927665   PMID:28948378   PMID:28991928   PMID:29039561   PMID:29051140   PMID:29058688   PMID:29203232   PMID:29226875  
PMID:29351188   PMID:29391273   PMID:29401587   PMID:29401597   PMID:29402992   PMID:29436685   PMID:29444818   PMID:29446853   PMID:29450744   PMID:29454091   PMID:29497919   PMID:29588308  
PMID:29608400   PMID:29630862   PMID:29734754   PMID:29743977   PMID:29777301   PMID:29787601   PMID:29845300   PMID:29904943   PMID:29925934   PMID:29984822   PMID:30021884   PMID:30027561  
PMID:30036530   PMID:30066848   PMID:30086460   PMID:30096614   PMID:30120232   PMID:30132564   PMID:30133118   PMID:30139844   PMID:30232381   PMID:30236477   PMID:30256387   PMID:30279732  
PMID:30289073   PMID:30396316   PMID:30401688   PMID:30417360   PMID:30423986   PMID:30456868   PMID:30475086   PMID:30483760   PMID:30540496   PMID:30589500   PMID:30615171   PMID:30700502  
PMID:30719715   PMID:30724452   PMID:30775874   PMID:30779868   PMID:30845284   PMID:30858542   PMID:30873824   PMID:30910851   PMID:30918240   PMID:30929546   PMID:30956148   PMID:30991288  
PMID:31023337   PMID:31096819   PMID:31115562   PMID:31169331   PMID:31236742   PMID:31240525   PMID:31307975   PMID:31340156   PMID:31363885   PMID:31370204   PMID:31376092   PMID:31381906  
PMID:31405022   PMID:31429823   PMID:31432097   PMID:31477752   PMID:31486713   PMID:31492751   PMID:31545422   PMID:31562188   PMID:31564130   PMID:31604823   PMID:31604908   PMID:31625068  
PMID:31717420   PMID:31755336   PMID:31876763   PMID:31896485   PMID:31922962   PMID:31932617   PMID:31980491   PMID:32019488   PMID:32074519   PMID:32088190   PMID:32169399   PMID:32274611  
PMID:32348765   PMID:32392440   PMID:32506171   PMID:32517158   PMID:32616654   PMID:32636303   PMID:32645858   PMID:32681389   PMID:32706142   PMID:32908134   PMID:32993587   PMID:32997825  
PMID:33035615   PMID:33051419   PMID:33052495   PMID:33099473   PMID:33223512   PMID:33274003   PMID:33405003   PMID:33466887   PMID:33628590   PMID:33727583   PMID:33744390   PMID:33837886  
PMID:33891904   PMID:33983539   PMID:34035268   PMID:34058069   PMID:34060368   PMID:34113005   PMID:34179721   PMID:34274912   PMID:34387398   PMID:34400890   PMID:34477295   PMID:34498339  
PMID:34575959   PMID:34656700   PMID:34862391   PMID:34872003   PMID:35029892   PMID:35075138   PMID:35220896   PMID:35241527   PMID:35313079   PMID:35326447   PMID:35518568  


Comparative Map Data
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38455,078,481 - 55,125,595 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl455,078,481 - 55,125,595 (-)EnsemblGRCh38hg38GRCh38
GRCh37455,944,648 - 55,991,762 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36455,639,406 - 55,686,519 (-)NCBINCBI36hg18NCBI36
Build 34455,785,576 - 55,832,690NCBI
Celera453,446,341 - 53,493,673 (-)NCBI
Cytogenetic Map4q12NCBI
HuRef451,893,013 - 51,940,346 (-)NCBIHuRef
CHM1_1455,979,683 - 56,027,015 (-)NCBICHM1_1
T2T-CHM13v2.0458,566,962 - 58,614,067 (-)NCBI
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm39576,093,487 - 76,139,885 (-)NCBIGRCm39mm39
GRCm39 Ensembl576,093,487 - 76,139,118 (-)Ensembl
GRCm38575,932,827 - 75,979,072 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl575,932,827 - 75,978,458 (-)EnsemblGRCm38mm10GRCm38
MGSCv37576,329,290 - 76,374,453 (-)NCBIGRCm37mm9NCBIm37
MGSCv36576,214,962 - 76,260,125 (-)NCBImm8
Celera573,218,468 - 73,263,674 (-)NCBICelera
Cytogenetic Map5C3.3NCBI
cM Map540.23NCBI
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
mRatBN7.21432,217,871 - 32,261,018 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1432,217,871 - 32,261,018 (+)Ensembl
Rnor_6.01434,727,677 - 34,787,127 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1434,727,623 - 34,787,183 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01434,557,361 - 34,618,112 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1431,512,534 - 31,554,989 (+)NCBICelera
Cytogenetic Map14p11NCBI
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
ChiLan1.0 EnsemblNW_00495544715,810,815 - 15,853,583 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544715,810,816 - 15,851,702 (+)NCBIChiLan1.0ChiLan1.0
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
PanPan1.1475,377,847 - 75,424,927 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl475,377,375 - 75,427,109 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0468,813,894 - 68,861,018 (+)NCBIMhudiblu_PPA_v0panPan3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
CanFam3.11347,442,861 - 47,484,574 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1347,442,764 - 47,485,042 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1347,400,610 - 47,442,293 (-)NCBI
ROS_Cfam_1.01348,053,730 - 48,095,387 (-)NCBI
ROS_Cfam_1.0 Ensembl1348,053,595 - 48,095,437 (-)Ensembl
UMICH_Zoey_3.11347,729,487 - 47,771,112 (-)NCBI
UNSW_CanFamBas_1.01347,258,117 - 47,299,735 (-)NCBI
UU_Cfam_GSD_1.01348,206,381 - 48,248,022 (-)NCBI
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
HiC_Itri_2NW_02440528528,716,920 - 28,760,830 (+)NCBI
SpeTri2.0NW_00493648217,537,697 - 17,581,320 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
Sscrofa11.1 Ensembl841,809,116 - 41,856,339 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1841,809,116 - 41,856,379 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2843,919,330 - 43,966,984 (-)NCBISscrofa10.2Sscrofa10.2susScr3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
ChlSab1.1713,435,059 - 13,482,236 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl713,435,096 - 13,482,771 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606614,207,326 - 14,254,753 (+)NCBIVero_WHO_p1.0
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
HetGla_female_1.0 EnsemblNW_00462476114,330,489 - 14,379,051 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462476114,330,224 - 14,380,680 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,973,881 - 55,974,055UniSTSGRCh37
Build 36455,668,638 - 55,668,812RGDNCBI36
Celera453,475,795 - 53,475,969RGD
Cytogenetic Map4q11-q12UniSTS
HuRef451,922,466 - 51,922,640UniSTS
GeneMap99-GB4 RH Map4333.98UniSTS
NCBI RH Map4579.4UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,970,871 - 55,971,086UniSTSGRCh37
Build 36455,665,628 - 55,665,843RGDNCBI36
Celera453,472,785 - 53,473,000RGD
Cytogenetic Map4q11-q12UniSTS
HuRef451,919,456 - 51,919,671UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,945,968 - 55,946,110UniSTSGRCh37
Build 36455,640,725 - 55,640,867RGDNCBI36
Celera453,447,883 - 53,448,025RGD
Cytogenetic Map4q11-q12UniSTS
HuRef451,894,555 - 51,894,697UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,946,175 - 55,946,251UniSTSGRCh37
GRCh37455,955,082 - 55,955,574UniSTSGRCh37
Build 36455,640,932 - 55,641,008RGDNCBI36
Celera453,456,997 - 53,457,489UniSTS
Celera453,448,090 - 53,448,166RGD
HuRef451,894,762 - 51,894,838UniSTS
HuRef451,903,669 - 51,904,161UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,945,993 - 55,946,083UniSTSGRCh37
Build 36455,640,750 - 55,640,840RGDNCBI36
Celera453,447,908 - 53,447,998RGD
Cytogenetic Map4q11-q12UniSTS
HuRef451,894,580 - 51,894,670UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,946,150 - 55,946,296UniSTSGRCh37
Build 36455,640,907 - 55,641,053RGDNCBI36
Celera453,448,065 - 53,448,211RGD
Cytogenetic Map4q11-q12UniSTS
HuRef451,894,737 - 51,894,883UniSTS
GeneMap99-GB4 RH Map4329.6UniSTS
NCBI RH Map4580.8UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,944,821 - 55,945,026UniSTSGRCh37
Build 36455,639,578 - 55,639,783RGDNCBI36
Celera453,446,736 - 53,446,941RGD
Cytogenetic Map4q11-q12UniSTS
HuRef451,893,408 - 51,893,613UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,944,821 - 55,945,026UniSTSGRCh37
Build 36455,639,578 - 55,639,783RGDNCBI36
Celera453,446,736 - 53,446,941RGD
Cytogenetic Map4q11-q12UniSTS
HuRef451,893,408 - 51,893,613UniSTS
GeneMap99-GB4 RH Map4316.26UniSTS
NCBI RH Map4580.8UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q11-q12UniSTS
GeneMap99-GB4 RH Map4335.57UniSTS
Whitehead-RH Map4417.1UniSTS
NCBI RH Map4680.6UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,946,175 - 55,946,251UniSTSGRCh37
GRCh37455,955,082 - 55,955,574UniSTSGRCh37
Build 36455,640,932 - 55,641,008RGDNCBI36
Celera453,456,997 - 53,457,489UniSTS
Celera453,448,090 - 53,448,166RGD
HuRef451,894,762 - 51,894,838UniSTS
HuRef451,903,669 - 51,904,161UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR200Bhsa-miR-200b-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI21544626

Predicted Target Of
Summary Value
Count of predictions:1226
Count of miRNA genes:603
Interacting mature miRNAs:671
Transcripts:ENST00000263923, ENST00000509309, ENST00000512566
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
Medium 1342 1320 1280 206 212 154 2582 1015 940 274 721 1347 55 1 1202 1529 4
Low 978 926 410 392 369 281 1747 1132 2734 102 665 109 112 2 1259 2
Below cutoff 18 697 18 13 763 15 20 28 40 11 26 56 3


Nucleotide Sequences
RefSeq Transcripts NG_012004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC111194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF063658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM978033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP280621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP761779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP761780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP761781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP761782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP761783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP761784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP774600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP774601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP774602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT253184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT253185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT253186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT253187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT253188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT253189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT253190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT253191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT253192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L04947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X61656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X89776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263923   ⟹   ENSP00000263923
RefSeq Status:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl455,078,481 - 55,125,595 (-)Ensembl
RefSeq Acc Id: ENST00000509309
RefSeq Status:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl455,094,850 - 55,096,720 (-)Ensembl
RefSeq Acc Id: ENST00000512566
RefSeq Status:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl455,104,593 - 55,125,293 (-)Ensembl
RefSeq Acc Id: ENST00000647068
RefSeq Status:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl455,078,531 - 55,122,921 (-)Ensembl
RefSeq Acc Id: NM_002253   ⟹   NP_002244
RefSeq Status: REVIEWED
Human AssemblyChrPosition (strand)Source
GRCh38455,078,481 - 55,125,595 (-)NCBI
GRCh37455,944,426 - 55,991,762 (-)ENTREZGENE
Build 36455,639,406 - 55,686,519 (-)NCBI Archive
HuRef451,893,013 - 51,940,346 (-)ENTREZGENE
CHM1_1455,979,683 - 56,027,015 (-)NCBI
T2T-CHM13v2.0458,566,962 - 58,614,067 (-)NCBI
Protein Sequences
Protein RefSeqs NP_002244 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA59459 (Get FASTA)   NCBI Sequence Viewer  
  AAB88005 (Get FASTA)   NCBI Sequence Viewer  
  AAC16450 (Get FASTA)   NCBI Sequence Viewer  
  AAI31823 (Get FASTA)   NCBI Sequence Viewer  
  ACF47599 (Get FASTA)   NCBI Sequence Viewer  
  ACR78514 (Get FASTA)   NCBI Sequence Viewer  
  AKN45942 (Get FASTA)   NCBI Sequence Viewer  
  AKN45943 (Get FASTA)   NCBI Sequence Viewer  
  AKN45944 (Get FASTA)   NCBI Sequence Viewer  
  AKN45945 (Get FASTA)   NCBI Sequence Viewer  
  AKN45946 (Get FASTA)   NCBI Sequence Viewer  
  AKN45947 (Get FASTA)   NCBI Sequence Viewer  
  AKN45948 (Get FASTA)   NCBI Sequence Viewer  
  AKN45949 (Get FASTA)   NCBI Sequence Viewer  
  AKN45950 (Get FASTA)   NCBI Sequence Viewer  
  ALS54733 (Get FASTA)   NCBI Sequence Viewer  
  ALS54734 (Get FASTA)   NCBI Sequence Viewer  
  ALS54735 (Get FASTA)   NCBI Sequence Viewer  
  ALS54736 (Get FASTA)   NCBI Sequence Viewer  
  ALS54737 (Get FASTA)   NCBI Sequence Viewer  
  ALS54738 (Get FASTA)   NCBI Sequence Viewer  
  ALS54739 (Get FASTA)   NCBI Sequence Viewer  
  ALS54740 (Get FASTA)   NCBI Sequence Viewer  
  ALS54741 (Get FASTA)   NCBI Sequence Viewer  
  BAD93138 (Get FASTA)   NCBI Sequence Viewer  
  BAG57114 (Get FASTA)   NCBI Sequence Viewer  
  CAA43837 (Get FASTA)   NCBI Sequence Viewer  
  CAA61916 (Get FASTA)   NCBI Sequence Viewer  
  EAX05462 (Get FASTA)   NCBI Sequence Viewer  
  EAX05463 (Get FASTA)   NCBI Sequence Viewer  
  EAX05464 (Get FASTA)   NCBI Sequence Viewer  
  P35968 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002244   ⟸   NM_002253
- Peptide Label: precursor
- UniProtKB: P35968 (UniProtKB/Swiss-Prot),   A0A024RD88 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000263923   ⟸   ENST00000263923
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P35968-F1-model_v2 AlphaFold P35968 1-1356 view protein structure

RGD ID:6867474
Promoter ID:EPDNEW_H6902
Type:initiation region
Description:kinase insert domain receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Human AssemblyChrPosition (strand)Source
GRCh38455,125,595 - 55,125,655EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser) single nucleotide variant Capillary infantile hemangioma [RCV000013110]|not specified [RCV000121300] Chr4:55088939 [GRCh38]
Chr4:55955106 [GRCh37]
pathogenic|other|not provided
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg) single nucleotide variant Capillary infantile hemangioma [RCV000013111]|not provided [RCV001355593]|not specified [RCV000121295] Chr4:55106779 [GRCh38]
Chr4:55972946 [GRCh37]
risk factor|likely benign|not provided
GRCh38/hg38 4q12(chr4:51870025-55102392)x1 copy number loss See cases [RCV000050988] Chr4:51870025..55102392 [GRCh38]
Chr4:52736191..55968559 [GRCh37]
Chr4:52430948..55663316 [NCBI36]
GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3 copy number gain See cases [RCV000050683] Chr4:44356201..62245882 [GRCh38]
Chr4:44358218..63111600 [GRCh37]
Chr4:44052975..62794195 [NCBI36]
GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3 copy number gain See cases [RCV000051771] Chr4:51831622..66991489 [GRCh38]
Chr4:52697788..67857207 [GRCh37]
Chr4:52392545..67539802 [NCBI36]
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3 copy number gain See cases [RCV000051773] Chr4:51899860..59984479 [GRCh38]
Chr4:52766026..60850197 [GRCh37]
Chr4:52460783..60532792 [NCBI36]
GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1 copy number loss See cases [RCV000053265] Chr4:52639018..59984479 [GRCh38]
Chr4:53505185..60850197 [GRCh37]
Chr4:53199942..60532792 [NCBI36]
GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1 copy number loss See cases [RCV000053266] Chr4:54198601..62270115 [GRCh38]
Chr4:55064768..63135833 [GRCh37]
Chr4:54759525..62818428 [NCBI36]
NM_002253.2(KDR):c.3357G>A (p.Leu1119=) single nucleotide variant Malignant melanoma [RCV000066459] Chr4:55089421 [GRCh38]
Chr4:55955588 [GRCh37]
Chr4:55650345 [NCBI36]
not provided
NM_002253.2(KDR):c.3728C>T (p.Pro1243Leu) single nucleotide variant Malignant melanoma [RCV000061012] Chr4:55082570 [GRCh38]
Chr4:55948737 [GRCh37]
Chr4:55643494 [NCBI36]
not provided
NM_002253.2(KDR):c.1338G>A (p.Thr446=) single nucleotide variant Malignant melanoma [RCV000061013] Chr4:55107811 [GRCh38]
Chr4:55973978 [GRCh37]
Chr4:55668735 [NCBI36]
not provided
NM_002253.4(KDR):c.1384T>G (p.Leu462Val) single nucleotide variant not provided [RCV000861138]|not specified [RCV000121292] Chr4:55107765 [GRCh38]
Chr4:55973932 [GRCh37]
benign|not provided
NM_002253.4(KDR):c.1416A>T (p.Gln472His) single nucleotide variant not specified [RCV000121293] Chr4:55106807 [GRCh38]
Chr4:55972974 [GRCh37]
not provided
NM_002253.4(KDR):c.1493A>T (p.Glu498Val) single nucleotide variant not specified [RCV000121294] Chr4:55106730 [GRCh38]
Chr4:55972897 [GRCh37]
not provided
NM_002253.4(KDR):c.1615G>A (p.Gly539Arg) single nucleotide variant not provided [RCV000862412]|not specified [RCV000121296] Chr4:55105862 [GRCh38]
Chr4:55972029 [GRCh37]
likely benign|not provided
NM_002253.4(KDR):c.2066C>T (p.Thr689Met) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000201301]|not provided [RCV000861134]|not specified [RCV000121297] Chr4:55102430 [GRCh38]
Chr4:55968597 [GRCh37]
benign|uncertain significance|not provided
NM_002253.4(KDR):c.3808A>C (p.Lys1270Gln) single nucleotide variant not specified [RCV000121301] Chr4:55081996 [GRCh38]
Chr4:55948163 [GRCh37]
not provided
NM_002253.4(KDR):c.2305G>A (p.Val769Ile) single nucleotide variant not specified [RCV000121298] Chr4:55098765 [GRCh38]
Chr4:55964932 [GRCh37]
not provided
NM_002253.4(KDR):c.2674A>G (p.Ile892Val) single nucleotide variant not specified [RCV000121299] Chr4:55096283 [GRCh38]
Chr4:55962450 [GRCh37]
not provided
NM_002253.4(KDR):c.170G>C (p.Arg57Thr) single nucleotide variant not provided [RCV001356648]|not specified [RCV000121302] Chr4:55118792 [GRCh38]
Chr4:55984959 [GRCh37]
uncertain significance|not provided
NM_002253.4(KDR):c.406G>A (p.Val136Met) single nucleotide variant not provided [RCV000861192]|not specified [RCV000121303] Chr4:55115364 [GRCh38]
Chr4:55981531 [GRCh37]
benign|not provided
NM_002253.4(KDR):c.724C>T (p.Leu242Phe) single nucleotide variant Premature ovarian failure [RCV001270196]|not specified [RCV000121304] Chr4:55114200 [GRCh38]
Chr4:55980367 [GRCh37]
likely pathogenic|not provided
NM_002253.4(KDR):c.787C>T (p.Pro263Ser) single nucleotide variant not specified [RCV000121305] Chr4:55114137 [GRCh38]
Chr4:55980304 [GRCh37]
not provided
NM_002253.4(KDR):c.794C>T (p.Ser265Leu) single nucleotide variant not specified [RCV000121306] Chr4:55114130 [GRCh38]
Chr4:55980297 [GRCh37]
not provided
NM_002253.4(KDR):c.895C>T (p.Arg299Trp) single nucleotide variant not specified [RCV000121307] Chr4:55113385 [GRCh38]
Chr4:55979552 [GRCh37]
not provided
NM_002253.4(KDR):c.889G>A (p.Val297Ile) single nucleotide variant not specified [RCV000121308] Chr4:55113391 [GRCh38]
Chr4:55979558 [GRCh37]
not provided
NM_002253.4(KDR):c.1055C>T (p.Ala352Val) single nucleotide variant not provided [RCV000865154]|not specified [RCV000121309] Chr4:55110690 [GRCh38]
Chr4:55976857 [GRCh37]
benign|not provided
NM_002253.4(KDR):c.1151C>T (p.Thr384Met) single nucleotide variant not provided [RCV001460346]|not specified [RCV000121310] Chr4:55110507 [GRCh38]
Chr4:55976674 [GRCh37]
likely benign|not provided
NM_002253.4(KDR):c.1116G>C (p.Glu372Asp) single nucleotide variant not provided [RCV000861936]|not specified [RCV000121311] Chr4:55110542 [GRCh38]
Chr4:55976709 [GRCh37]
benign|not provided
NM_002253.4(KDR):c.1192G>A (p.Val398Ile) single nucleotide variant not specified [RCV000121312] Chr4:55110466 [GRCh38]
Chr4:55976633 [GRCh37]
not provided
NM_002253.4(KDR):c.3848+15T>C single nucleotide variant Capillary infantile hemangioma [RCV000612206]|not specified [RCV001701117] Chr4:55081941 [GRCh38]
Chr4:55948108 [GRCh37]
NM_002253.4(KDR):c.2360G>A (p.Arg787Gln) single nucleotide variant Malignant tumor of prostate [RCV000149129] Chr4:55098710 [GRCh38]
Chr4:55964877 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.2615-23C>T single nucleotide variant Carcinoma of colon [RCV000186516] Chr4:55096365 [GRCh38]
Chr4:55962532 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.2656C>A (p.Leu886Ile) single nucleotide variant Carcinoma of colon [RCV000186517] Chr4:55096301 [GRCh38]
Chr4:55962468 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.2676T>A (p.Ile892=) single nucleotide variant Carcinoma of colon [RCV000186518] Chr4:55096281 [GRCh38]
Chr4:55962448 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.2705T>A (p.Leu902Gln) single nucleotide variant Carcinoma of colon [RCV000186519] Chr4:55096252 [GRCh38]
Chr4:55962419 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.2721G>C (p.Lys907Asn) single nucleotide variant Carcinoma of colon [RCV000186520] Chr4:55096236 [GRCh38]
Chr4:55962403 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.2380G>A (p.Gly794Arg) single nucleotide variant Carcinoma of colon [RCV000186521] Chr4:55098266 [GRCh38]
Chr4:55964433 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.2509+20T>A single nucleotide variant Carcinoma of colon [RCV000186522] Chr4:55098117 [GRCh38]
Chr4:55964284 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.2510-27del deletion Carcinoma of colon [RCV000186523] Chr4:55097793 [GRCh38]
Chr4:55963960 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.2544G>T (p.Val848=) single nucleotide variant Carcinoma of colon [RCV000186524] Chr4:55097732 [GRCh38]
Chr4:55963899 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.2598A>C (p.Ala866=) single nucleotide variant Carcinoma of colon [RCV000186525] Chr4:55097678 [GRCh38]
Chr4:55963845 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.3405-4C>T single nucleotide variant Carcinoma of colon [RCV000186526] Chr4:55088977 [GRCh38]
Chr4:55955144 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.3441C>G (p.Pro1147=) single nucleotide variant Carcinoma of colon [RCV000186527] Chr4:55088937 [GRCh38]
Chr4:55955104 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.3465G>A (p.Glu1155=) single nucleotide variant Carcinoma of colon [RCV000186528] Chr4:55088913 [GRCh38]
Chr4:55955080 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.3487C>T (p.Leu1163Phe) single nucleotide variant Carcinoma of colon [RCV000186529] Chr4:55088891 [GRCh38]
Chr4:55955058 [GRCh37]
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
NM_002253.4(KDR):c.2266+1G>T single nucleotide variant not provided [RCV000426580] Chr4:55101896 [GRCh38]
Chr4:55968063 [GRCh37]
uncertain significance
NM_002253.4(KDR):c.2971+3A>G single nucleotide variant not provided [RCV000483185] Chr4:55094799 [GRCh38]
Chr4:55960966 [GRCh37]
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
NM_002253.4(KDR):c.2743A>G (p.Ile915Val) single nucleotide variant not provided [RCV000861318] Chr4:55095651 [GRCh38]
Chr4:55961818 [GRCh37]
likely benign
NM_002253.4(KDR):c.1137G>A (p.Ala379=) single nucleotide variant not provided [RCV000866539] Chr4:55110521 [GRCh38]
Chr4:55976688 [GRCh37]
likely benign
NM_002253.4(KDR):c.2022G>C (p.Glu674Asp) single nucleotide variant not provided [RCV000868619] Chr4:55102474 [GRCh38]
Chr4:55968641 [GRCh37]
likely benign
NM_002253.4(KDR):c.2556T>C (p.Asp852=) single nucleotide variant not provided [RCV000867925] Chr4:55097720 [GRCh38]
Chr4:55963887 [GRCh37]
likely benign
NM_002253.4(KDR):c.837C>T (p.Thr279=) single nucleotide variant not provided [RCV000926263] Chr4:55113443 [GRCh38]
Chr4:55979610 [GRCh37]
NM_002253.4(KDR):c.1092-6T>C single nucleotide variant not provided [RCV000864481] Chr4:55110572 [GRCh38]
Chr4:55976739 [GRCh37]
NM_002253.4(KDR):c.1440C>T (p.Tyr480=) single nucleotide variant not provided [RCV000943497] Chr4:55106783 [GRCh38]
Chr4:55972950 [GRCh37]
likely benign
NM_002253.4(KDR):c.1593A>G (p.Glu531=) single nucleotide variant not provided [RCV000924663] Chr4:55105884 [GRCh38]
Chr4:55972051 [GRCh37]
likely benign
NM_002253.4(KDR):c.3132C>A (p.Ile1044=) single nucleotide variant not provided [RCV000862377] Chr4:55090016 [GRCh38]
Chr4:55956183 [GRCh37]
NM_002253.4(KDR):c.1256-10C>T single nucleotide variant not provided [RCV000860953] Chr4:55107903 [GRCh38]
Chr4:55974070 [GRCh37]
NM_002253.4(KDR):c.1638C>T (p.His546=) single nucleotide variant not provided [RCV000863804] Chr4:55105839 [GRCh38]
Chr4:55972006 [GRCh37]
NM_002253.4(KDR):c.1987+28C>T single nucleotide variant not specified [RCV000122411] Chr4:55104615 [GRCh38]
Chr4:55970782 [GRCh37]
not provided
NM_002253.4(KDR):c.-1G>T single nucleotide variant not specified [RCV000122412] Chr4:55125294 [GRCh38]
Chr4:55991461 [GRCh37]
not provided
NM_002253.4(KDR):c.3888T>A (p.Ser1296=) single nucleotide variant not provided [RCV000869240] Chr4:55080124 [GRCh38]
Chr4:55946291 [GRCh37]
likely benign
NM_002253.4(KDR):c.3090G>A (p.Ala1030=) single nucleotide variant not provided [RCV000861204] Chr4:55090058 [GRCh38]
Chr4:55956225 [GRCh37]
NM_002253.4(KDR):c.204T>C (p.Ser68=) single nucleotide variant not provided [RCV000861467] Chr4:55118758 [GRCh38]
Chr4:55984925 [GRCh37]
NM_002253.4(KDR):c.1029G>A (p.Thr343=) single nucleotide variant not provided [RCV000863943] Chr4:55110716 [GRCh38]
Chr4:55976883 [GRCh37]
NM_002253.4(KDR):c.2012G>A (p.Gly671Glu) single nucleotide variant not provided [RCV001200283] Chr4:55102484 [GRCh38]
Chr4:55968651 [GRCh37]
conflicting interpretations of pathogenicity|uncertain significance
NM_002253.4(KDR):c.1326G>A (p.Thr442=) single nucleotide variant not provided [RCV000865952] Chr4:55107823 [GRCh38]
Chr4:55973990 [GRCh37]
likely benign
NM_002253.4(KDR):c.1575A>G (p.Ser525=) single nucleotide variant not provided [RCV000867420] Chr4:55105902 [GRCh38]
Chr4:55972069 [GRCh37]
NM_002253.4(KDR):c.1834T>C (p.Leu612=) single nucleotide variant not provided [RCV000861395] Chr4:55104796 [GRCh38]
Chr4:55970963 [GRCh37]
NM_002253.4(KDR):c.1596G>A (p.Ala532=) single nucleotide variant not provided [RCV000861466] Chr4:55105881 [GRCh38]
Chr4:55972048 [GRCh37]
NM_002253.4(KDR):c.2312C>T (p.Thr771Met) single nucleotide variant High myopia [RCV000785688]|Tufted angioma of skin [RCV001849436]|not provided [RCV000862978] Chr4:55098758 [GRCh38]
Chr4:55964925 [GRCh37]
likely pathogenic|likely benign|uncertain significance
NM_002253.4(KDR):c.3445C>G (p.Gln1149Glu) single nucleotide variant not provided [RCV001357814] Chr4:55088933 [GRCh38]
Chr4:55955100 [GRCh37]
uncertain significance
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Partial albinism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
NM_002253.4(KDR):c.2525G>A (p.Arg842His) single nucleotide variant Hepatoblastoma [RCV001843588]|not provided [RCV001437104] Chr4:55097751 [GRCh38]
Chr4:55963918 [GRCh37]
likely benign|uncertain significance
GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1 copy number loss not provided [RCV001829079] Chr4:52685685..58104722 [GRCh37]
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
NC_000004.11:g.(?_55124936)_(57798318_?)dup duplication not provided [RCV001944395] Chr4:55124936..57798318 [GRCh37]
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6307 AgrOrtholog
Ensembl Genes ENSG00000128052 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000263923 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263923 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH UniProtKB/Swiss-Prot
GTEx ENSG00000128052 GTEx
Human Proteome Map KDR Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_I-set UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Tyr_kinase_rcpt_3_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VEGFR-2_TMD UniProtKB/Swiss-Prot
  VEGFR2_rcpt UniProtKB/Swiss-Prot
KEGG Report hsa:3791 UniProtKB/Swiss-Prot
OMIM 191306 OMIM
  602089 OMIM
Pfam I-set UniProtKB/Swiss-Prot
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VEGFR-2_TMD UniProtKB/Swiss-Prot
SMART IGc2 UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
  TyrKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P35968 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A2RRS0 UniProtKB/Swiss-Prot
  B5A925 UniProtKB/Swiss-Prot
  C5IFA0 UniProtKB/Swiss-Prot
  O60723 UniProtKB/Swiss-Prot
  Q14178 UniProtKB/Swiss-Prot