ENG (endoglin) - Rat Genome Database

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Gene: ENG (endoglin) Homo sapiens
Symbol: ENG
Name: endoglin
RGD ID: 1351093
HGNC Page HGNC:3349
Description: Enables several functions, including galactose binding activity; protein homodimerization activity; and transforming growth factor beta receptor binding activity. Contributes to BMP binding activity and transforming growth factor beta binding activity. Involved in several processes, including central nervous system vasculogenesis; regulation of transcription by RNA polymerase II; and regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Located in external side of plasma membrane; extracellular space; and nuclear body. Part of receptor complex. Implicated in arteriovenous malformation; arteriovenous malformations of the brain; breast cancer; hereditary hemorrhagic telangiectasia; and intracranial aneurysm. Biomarker of several diseases, including artery disease (multiple); clear cell renal cell carcinoma; diabetic retinopathy; hematologic cancer (multiple); and secondary hyperparathyroidism.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD105; CD105 antigen; END; FLJ41744; HHT1; ORW; ORW1; soluble endoglin
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
GRCh389127,815,012 - 127,854,773 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9127,815,013 - 127,854,658 (-)EnsemblGRCh38hg38GRCh38
GRCh379130,577,291 - 130,617,052 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,617,115 - 129,656,805 (-)NCBINCBI36hg18NCBI36
Build 349127,656,849 - 127,696,538NCBI
Celera9101,228,133 - 101,267,888 (-)NCBI
Cytogenetic Map9q34.11NCBI
HuRef9100,194,111 - 100,234,515 (-)NCBIHuRef
CHM1_19130,728,823 - 130,768,983 (-)NCBICHM1_1
T2T-CHM13v2.09140,022,431 - 140,062,187 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
acute lymphoblastic leukemia  (IEP)
arteriovenous malformation  (IAGP,IEA,ISO)
arteriovenous malformations of the brain  (IAGP,IEA,ISO,ISS)
breast cancer  (IEA,IMP)
Breast Neoplasms  (ISO)
Chemical and Drug Induced Liver Injury  (ISO)
cholestasis  (ISO)
clear cell renal cell carcinoma  (IEP)
congenital disorder of glycosylation Iu  (IAGP)
congestive heart failure  (ISO)
coronary artery disease  (IEP)
cystic fibrosis  (EXP)
developmental and epileptic encephalopathy  (IAGP)
developmental and epileptic encephalopathy 31  (IAGP)
Diabetic Nephropathies  (IEP)
diabetic retinopathy  (IEP)
early infantile epileptic encephalopathy  (IAGP)
Epistaxis  (IAGP,ISO)
Fractures, Stress  (ISO)
Galloway-Mowat syndrome 1  (IAGP)
genetic disease  (IAGP)
hepatocellular carcinoma  (ISO)
hereditary hemorrhagic telangiectasia  (EXP,IAGP,IDA,ISO)
Hereditary Hemorrhagic Telangiectasia, Type 1  (IAGP,IDA)
Hereditary Hemorrhagic Telangiectasia, Type 2  (IAGP)
Hypercholesterolemia  (ISO)
hypertension  (ISO)
intracranial aneurysm  (IAGP,IEA)
juvenile polyposis syndrome  (IAGP)
Kidney Reperfusion Injury  (ISO)
lymphoid leukemia  (IEP)
melanoma  (ISO)
middle cerebral artery infarction  (ISO)
multiple myeloma  (IEP)
pre-eclampsia  (IEP,ISO)
Pregnancy in Diabetics  (IEP)
primary coenzyme Q10 deficiency 7  (IAGP)
Primary Pulmonary Hypertension, 1  (IAGP)
prostate cancer  (IEP)
Pulmonary Arterial Hypertension  (IAGP)
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related  (IAGP)
pulmonary hypertension  (ISO)
Radiation Injuries, Experimental  (ISO)
renal fibrosis  (ISO)
Right Ventricular Hypertrophy  (ISO)
secondary hyperparathyroidism  (IEP)
systemic lupus erythematosus  (IAGP)
Wounds and Injuries  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
C60 fullerene  (ISO)
candesartan  (ISO)
cannabidiol  (ISO)
carbon nanotube  (ISO)
chromium(3+) trichloride  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
daunorubicin  (ISO)
deoxynivalenol  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (EXP)
dopamine  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
enalapril  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
fenoldopam  (ISO)
fenthion  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
iohexol  (EXP)
iopamidol  (EXP)
losartan  (ISO)
manganese(II) chloride  (ISO)
methapyrilene  (EXP)
methidathion  (ISO)
mifepristone  (ISO)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N-nitrosodiethylamine  (ISO)
nicotine  (ISO)
nitrofen  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paricalcitol  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
progesterone  (ISO)
raloxifene  (EXP)
retinyl acetate  (ISO)
rotenone  (ISO)
Salinomycin  (EXP)
selenium atom  (EXP)
serpentine asbestos  (ISO)
sodium dichromate  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
triclosan  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
valsartan  (ISO)
vinclozolin  (ISO)
Y-27632  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IEA,ISO)
artery morphogenesis  (IEA,ISS)
atrial cardiac muscle tissue morphogenesis  (IEA,ISS)
atrioventricular canal morphogenesis  (IEA,ISS)
BMP signaling pathway  (TAS)
bone development  (IEA,ISO)
branching involved in blood vessel morphogenesis  (IEA,ISS)
cardiac atrium morphogenesis  (IEA,ISS)
cardiac jelly development  (ISO)
cardiac ventricle morphogenesis  (IEA,ISS)
cell adhesion  (IEA)
cell chemotaxis  (IMP)
cell migration  (IBA,IMP)
cell migration involved in endocardial cushion formation  (IEA,ISO)
cell motility  (IMP)
cellular response to mechanical stimulus  (IEA,ISO)
central nervous system vasculogenesis  (IMP)
detection of hypoxia  (IDA)
dorsal aorta morphogenesis  (IEA,ISS)
endocardial cushion morphogenesis  (IEA,ISS)
endocardial cushion to mesenchymal transition  (ISS)
epithelial to mesenchymal transition  (IBA)
epithelial to mesenchymal transition involved in endocardial cushion formation  (IEA,ISS)
extracellular matrix constituent secretion  (IEA,ISO)
extracellular matrix disassembly  (IMP)
heart development  (IEA,ISO)
heart looping  (IEA,ISS)
negative regulation of cell migration  (IDA)
negative regulation of endothelial cell proliferation  (IMP)
negative regulation of gene expression  (IEA,ISS)
negative regulation of nitric-oxide synthase activity  (IMP)
negative regulation of pathway-restricted SMAD protein phosphorylation  (IMP)
negative regulation of protein autophosphorylation  (IDA)
negative regulation of transcription by RNA polymerase II  (IDA)
negative regulation of transforming growth factor beta receptor signaling pathway  (TAS)
outflow tract septum morphogenesis  (IEA,ISS)
positive regulation of angiogenesis  (IEA,ISO)
positive regulation of BMP signaling pathway  (IDA)
positive regulation of collagen biosynthetic process  (IEA,ISO)
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation  (IEA,ISS)
positive regulation of gene expression  (IEA,ISO)
positive regulation of pathway-restricted SMAD protein phosphorylation  (IDA,IMP)
positive regulation of protein kinase B signaling  (IGI)
positive regulation of protein phosphorylation  (IDA,IEA,ISO)
positive regulation of systemic arterial blood pressure  (IMP)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,ISS)
positive regulation of vascular associated smooth muscle cell differentiation  (IEA,ISS)
regulation of cardiac muscle cell apoptotic process  (ISS)
regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis  (ISS)
regulation of cell adhesion  (TAS)
regulation of cell population proliferation  (TAS)
regulation of cell proliferation involved in heart morphogenesis  (ISS)
regulation of DNA-templated transcription  (IMP)
regulation of phosphorylation  (TAS)
regulation of transforming growth factor beta receptor signaling pathway  (IBA,IDA,IEA,ISO)
response to corticosteroid  (IEA,ISO)
response to hypoxia  (IDA)
response to transforming growth factor beta  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISO)
smooth muscle tissue development  (IEA,ISS)
sprouting angiogenesis  (ISS)
transforming growth factor beta receptor signaling pathway  (IBA,IDA)
vascular associated smooth muscle cell development  (IEA,ISS)
vasculogenesis  (IBA,IEA,IMP,ISO)
venous blood vessel morphogenesis  (IEA,ISS)
ventricular trabecula myocardium morphogenesis  (IEA,ISS)
wound healing  (IMP)

Cellular Component

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

Human Phenotype
Abnormal brainstem morphology  (IAGP)
Abnormal circle of Willis morphology  (IAGP)
Adenomatous colonic polyposis  (IAGP)
Amblyopia  (IAGP)
Anemia  (IAGP)
Anemic pallor  (IAGP)
Aortic dissection  (IAGP)
Aortic root aneurysm  (IAGP)
Arteriovenous fistulas of celiac and mesenteric vessels  (IAGP)
Atherosclerosis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Brain abscess  (IAGP)
Cavernous hemangioma  (IAGP)
Cerebral arteriovenous malformation  (IAGP)
Cerebral berry aneurysm  (IAGP)
Cerebral hemorrhage  (IAGP)
Chest pain  (IAGP)
Cholecystitis  (IAGP)
Cholelithiasis  (IAGP)
Cirrhosis  (IAGP)
Clubbing  (IAGP)
Congestive heart failure  (IAGP)
Conjunctival telangiectasia  (IAGP)
Cyanosis  (IAGP)
Dilatation of celiac artery  (IAGP)
Dilatation of mesenteric artery  (IAGP)
Duodenal polyposis  (IAGP)
Dyspnea  (IAGP)
Edema  (IAGP)
Encephalomalacia  (IAGP)
Epistaxis  (IAGP)
Esophageal varix  (IAGP)
Exacerbated by pregnancy  (IAGP)
Exertional dyspnea  (IAGP)
Fingerpad telangiectases  (IAGP)
Gastrointestinal angiodysplasia  (IAGP)
Gastrointestinal arteriovenous malformation  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Gastrointestinal telangiectasia  (IAGP)
Growth delay  (IAGP)
Hematemesis  (IAGP)
Hematochezia  (IAGP)
Hematuria  (IAGP)
Hemiparesis  (IAGP)
Hemoptysis  (IAGP)
Hemothorax  (IAGP)
Hepatic arteriovenous malformation  (IAGP)
Hepatic failure  (IAGP)
High-output congestive heart failure  (IAGP)
Hypertension  (IAGP)
Hypoxemia  (IAGP)
Intermediate young adult onset  (IAGP)
Intestinal polyposis  (IAGP)
Ischemic stroke  (IAGP)
Lip telangiectasia  (IAGP)
Melena  (IAGP)
Microcytic anemia  (IAGP)
Migraine  (IAGP)
Miscarriage  (IAGP)
Multiple gastric polyps  (IAGP)
Nail bed telangiectasia  (IAGP)
Nasal mucosa telangiectasia  (IAGP)
Nephrolithiasis  (IAGP)
Oculomotor nerve palsy  (IAGP)
Oral cavity telangiectasia  (IAGP)
Palate telangiectasia  (IAGP)
Peripheral arteriovenous fistula  (IAGP)
Polycythemia  (IAGP)
Portal hypertension  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary arteriovenous malformation  (IAGP)
Pulmonary embolism  (IAGP)
Pulmonary hemorrhage  (IAGP)
Rectal polyposis  (IAGP)
Reduced FEV1/FVC ratio  (IAGP)
Restrictive ventilatory defect  (IAGP)
Retinal telangiectasia  (IAGP)
Right-to-left shunt  (IAGP)
Seizure  (IAGP)
Spinal arteriovenous malformation  (IAGP)
Spontaneous hematomas  (IAGP)
Spontaneous, recurrent epistaxis  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Systemic lupus erythematosus  (IAGP)
Telangiectasia  (IAGP)
Telangiectasia of the skin  (IAGP)
Tongue telangiectasia  (IAGP)
Transient ischemic attack  (IAGP)
Venous thrombosis  (IAGP)
Venous varicosities of celiac and mesenteric vessels  (IAGP)
Visceral angiomatosis  (IAGP)
Visual field defect  (IAGP)

References - curated