Details for: ENG

Gene ID: 2022

Symbol: ENG

Ensembl ID: ENSG00000106991

Description: endoglin

Associated with

  • Activin binding
    (GO:0048185)
  • Artery morphogenesis
    (GO:0048844)
  • Atrial cardiac muscle tissue morphogenesis
    (GO:0055009)
  • Atrioventricular canal morphogenesis
    (GO:1905222)
  • Bmp binding
    (GO:0036122)
  • Bmp signaling pathway
    (GO:0030509)
  • Bone development
    (GO:0060348)
  • Branching involved in blood vessel morphogenesis
    (GO:0001569)
  • Cardiac atrium morphogenesis
    (GO:0003209)
  • Cardiac ventricle morphogenesis
    (GO:0003208)
  • Cell adhesion
    (GO:0007155)
  • Cell chemotaxis
    (GO:0060326)
  • Cell migration
    (GO:0016477)
  • Cell migration involved in endocardial cushion formation
    (GO:0003273)
  • Cell motility
    (GO:0048870)
  • Cell surface
    (GO:0009986)
  • Cellular response to mechanical stimulus
    (GO:0071260)
  • Central nervous system vasculogenesis
    (GO:0022009)
  • Coreceptor activity
    (GO:0015026)
  • Detection of hypoxia
    (GO:0070483)
  • Dorsal aorta morphogenesis
    (GO:0035912)
  • Endocardial cushion morphogenesis
    (GO:0003203)
  • Endocardial cushion to mesenchymal transition
    (GO:0090500)
  • Endothelial microparticle
    (GO:0072563)
  • Epithelial to mesenchymal transition
    (GO:0001837)
  • Epithelial to mesenchymal transition involved in endocardial cushion formation
    (GO:0003198)
  • External side of plasma membrane
    (GO:0009897)
  • Extracellular matrix constituent secretion
    (GO:0070278)
  • Extracellular matrix disassembly
    (GO:0022617)
  • Extracellular space
    (GO:0005615)
  • Focal adhesion
    (GO:0005925)
  • Galactose binding
    (GO:0005534)
  • Glycosaminoglycan binding
    (GO:0005539)
  • Heart looping
    (GO:0001947)
  • Identical protein binding
    (GO:0042802)
  • Negative regulation of cell migration
    (GO:0030336)
  • Negative regulation of endothelial cell proliferation
    (GO:0001937)
  • Negative regulation of gene expression
    (GO:0010629)
  • Negative regulation of nitric-oxide synthase activity
    (GO:0051001)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Negative regulation of transforming growth factor beta receptor signaling pathway
    (GO:0030512)
  • Nuclear body
    (GO:0016604)
  • Outflow tract septum morphogenesis
    (GO:0003148)
  • Plasma membrane
    (GO:0005886)
  • Positive regulation of angiogenesis
    (GO:0045766)
  • Positive regulation of bmp signaling pathway
    (GO:0030513)
  • Positive regulation of collagen biosynthetic process
    (GO:0032967)
  • Positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation
    (GO:1905007)
  • Positive regulation of gene expression
    (GO:0010628)
  • Positive regulation of phosphatidylinositol 3-kinase/protein kinase b signal transduction
    (GO:0051897)
  • Positive regulation of smad protein signal transduction
    (GO:0060391)
  • Positive regulation of systemic arterial blood pressure
    (GO:0003084)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Positive regulation of vascular associated smooth muscle cell differentiation
    (GO:1905065)
  • Protein binding
    (GO:0005515)
  • Protein homodimerization activity
    (GO:0042803)
  • Receptor complex
    (GO:0043235)
  • Regulation of cardiac muscle cell apoptotic process
    (GO:0010665)
  • Regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis
    (GO:1905310)
  • Regulation of cell adhesion
    (GO:0030155)
  • Regulation of cell population proliferation
    (GO:0042127)
  • Regulation of cell proliferation involved in heart morphogenesis
    (GO:2000136)
  • Regulation of dna-templated transcription
    (GO:0006355)
  • Regulation of phosphorylation
    (GO:0042325)
  • Regulation of transforming growth factor beta receptor signaling pathway
    (GO:0017015)
  • Response to hypoxia
    (GO:0001666)
  • Response to xenobiotic stimulus
    (GO:0009410)
  • Signaling receptor activator activity
    (GO:0030546)
  • Smooth muscle tissue development
    (GO:0048745)
  • Sprouting angiogenesis
    (GO:0002040)
  • Transforming growth factor beta binding
    (GO:0050431)
  • Transforming growth factor beta receptor activity
    (GO:0005024)
  • Transforming growth factor beta receptor signaling pathway
    (GO:0007179)
  • Transmembrane signaling receptor activity
    (GO:0004888)
  • Type ii transforming growth factor beta receptor binding
    (GO:0005114)
  • Type i transforming growth factor beta receptor binding
    (GO:0034713)
  • Vascular associated smooth muscle cell development
    (GO:0097084)
  • Vasculogenesis
    (GO:0001570)
  • Venous blood vessel morphogenesis
    (GO:0048845)
  • Ventricular trabecula myocardium morphogenesis
    (GO:0003222)
  • Wound healing
    (GO:0042060)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 169.2755
    Cell Significance Index: -26.3300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 113.5847
    Cell Significance Index: -28.8100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 81.2603
    Cell Significance Index: -33.4800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 69.2419
    Cell Significance Index: -28.1300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 66.1269
    Cell Significance Index: -31.2200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 61.8408
    Cell Significance Index: -31.8100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 46.5558
    Cell Significance Index: -31.2400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 25.1753
    Cell Significance Index: -31.0400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 15.8413
    Cell Significance Index: -34.6700
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 12.0929
    Cell Significance Index: 71.4000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.7102
    Cell Significance Index: -31.3700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.0283
    Cell Significance Index: -31.6800
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 7.7945
    Cell Significance Index: 29.0500
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 7.7316
    Cell Significance Index: 111.2000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 5.5772
    Cell Significance Index: 63.3600
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 4.4288
    Cell Significance Index: 68.5200
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 4.1855
    Cell Significance Index: 73.9600
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 3.7957
    Cell Significance Index: 13.2100
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 3.0388
    Cell Significance Index: 15.1600
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 2.2857
    Cell Significance Index: 18.0500
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 2.2024
    Cell Significance Index: 13.7900
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 2.0053
    Cell Significance Index: 12.4600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.4732
    Cell Significance Index: 202.3100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.4351
    Cell Significance Index: 38.3200
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.1687
    Cell Significance Index: 12.1100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.9593
    Cell Significance Index: 12.2900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6360
    Cell Significance Index: 574.2900
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.5445
    Cell Significance Index: 3.2900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.5239
    Cell Significance Index: 33.8000
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.5216
    Cell Significance Index: 7.4900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.4126
    Cell Significance Index: 10.5400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3619
    Cell Significance Index: 58.8600
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.3319
    Cell Significance Index: 1.9500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2236
    Cell Significance Index: 24.3200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2035
    Cell Significance Index: 40.3900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1954
    Cell Significance Index: 19.3300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1431
    Cell Significance Index: 27.2300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0708
    Cell Significance Index: 5.4300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0413
    Cell Significance Index: 2.8600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0333
    Cell Significance Index: 6.0000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0296
    Cell Significance Index: 0.7400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0149
    Cell Significance Index: 23.0100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0097
    Cell Significance Index: 1.2400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0068
    Cell Significance Index: 0.8300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0066
    Cell Significance Index: 12.1200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0017
    Cell Significance Index: -3.1300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0086
    Cell Significance Index: -0.5300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0097
    Cell Significance Index: -0.2800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0104
    Cell Significance Index: -14.1100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0180
    Cell Significance Index: -0.9400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0192
    Cell Significance Index: -10.4700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0325
    Cell Significance Index: -24.6200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0332
    Cell Significance Index: -22.9700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0369
    Cell Significance Index: -23.4100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0373
    Cell Significance Index: -27.3800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0405
    Cell Significance Index: -2.4300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0423
    Cell Significance Index: -18.7100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0465
    Cell Significance Index: -34.4100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0516
    Cell Significance Index: -2.3400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0530
    Cell Significance Index: -19.0200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0532
    Cell Significance Index: -5.4300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0535
    Cell Significance Index: -33.4300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0543
    Cell Significance Index: -24.6300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0584
    Cell Significance Index: -32.9200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0661
    Cell Significance Index: -13.2600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0807
    Cell Significance Index: -23.2300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0947
    Cell Significance Index: -4.7800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0948
    Cell Significance Index: -3.3300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0948
    Cell Significance Index: -1.8500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1129
    Cell Significance Index: -1.8900
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.1267
    Cell Significance Index: -0.9100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1673
    Cell Significance Index: -35.2500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1694
    Cell Significance Index: -3.6700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1735
    Cell Significance Index: -25.2200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1822
    Cell Significance Index: -31.1200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1847
    Cell Significance Index: -23.8700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1911
    Cell Significance Index: -4.0700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2023
    Cell Significance Index: -6.4800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2062
    Cell Significance Index: -14.5800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2181
    Cell Significance Index: -25.7200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2331
    Cell Significance Index: -10.9600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2370
    Cell Significance Index: -27.6200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2379
    Cell Significance Index: -27.2600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2812
    Cell Significance Index: -20.9600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2973
    Cell Significance Index: -30.9600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3126
    Cell Significance Index: -8.9600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3211
    Cell Significance Index: -6.6600
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.3453
    Cell Significance Index: -3.2800
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.3681
    Cell Significance Index: -5.0400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3746
    Cell Significance Index: -10.0200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3788
    Cell Significance Index: -30.0000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.4182
    Cell Significance Index: -3.4100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4344
    Cell Significance Index: -29.2100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4568
    Cell Significance Index: -28.0800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4911
    Cell Significance Index: -30.9500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4915
    Cell Significance Index: -27.5800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.4956
    Cell Significance Index: -9.1600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.5011
    Cell Significance Index: -21.7900
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: -0.5435
    Cell Significance Index: -6.6800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5681
    Cell Significance Index: -9.7400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Structural organization**: The ENG gene consists of 10 exons that encode a 504-amino acid protein with a single transmembrane domain. 2. **Function**: Endoglin acts as a type II receptor for TGF-β, binding to the TGF-β ligand and recruiting Smad proteins to activate downstream signaling pathways. 3. **Expression**: ENG is highly expressed in endothelial cells, including those of blood vessels, lymphatic vessels, and the placenta. 4. **Regulation**: Endoglin is negatively regulated by TGF-β, which can downregulate its expression, while positive regulation by other signaling pathways can enhance its expression. **Pathways and Functions** 1. **TGF-β signaling pathway**: Endoglin acts as a coreceptor for TGF-β, regulating the activity of Smad proteins, which are key mediators of TGF-β signaling. 2. **Angiogenesis**: Endoglin plays a crucial role in regulating angiogenesis, the formation of new blood vessels, by modulating the activity of endothelial cells. 3. **Endothelial cell migration**: Endoglin regulates the migration of endothelial cells, which is essential for vascular development and remodeling. 4. **Cell differentiation**: Endoglin is involved in regulating the differentiation of vascular smooth muscle cells and endothelial cells. 5. **Cardiac development**: ENG is essential for cardiac development, particularly in the formation of the outflow tract septum and the regulation of cardiac muscle cell apoptosis. **Clinical Significance** 1. **Vascular disorders**: Mutations in the ENG gene have been associated with vascular disorders, such as hemophilia C, a rare bleeding disorder characterized by defective blood clotting. 2. **Angiogenesis-related cancers**: Endoglin has been implicated in the pathogenesis of various cancers, including renal cell carcinoma, breast cancer, and lung cancer, where it promotes angiogenesis and tumor growth. 3. **Cardiovascular diseases**: ENG has been linked to cardiovascular diseases, such as atherosclerosis and cardiac fibrosis, where it regulates endothelial cell function and vascular remodeling. 4. **Pregnancy and placental development**: Endoglin plays a crucial role in placental development and function, and its dysregulation has been associated with pregnancy complications, such as preeclampsia. In conclusion, the ENG gene is a critical component of the TGF-β signaling pathway, regulating endothelial cell function, angiogenesis, and vascular development. Its dysregulation has been implicated in various diseases, including vascular disorders, cancers, and cardiovascular diseases. Further studies are needed to fully understand the role of endoglin in human health and disease.

Genular Protein ID: 1620781284

Symbol: EGLN_HUMAN

Name: Endoglin

UniProtKB Accession Codes:

P17813 Q14248 Q14926 Q5T9C0

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 14 Ensembl 2 ExpressionAtlas 1 GO 75 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 3 SASBDB 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8370410

Title: Identification and expression of two forms of the human transforming growth factor-beta-binding protein endoglin with distinct cytoplasmic regions.

PubMed ID: 8370410

DOI: 10.1002/eji.1830230943

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 1692830

Title: Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells.

PubMed ID: 1692830

DOI: 10.1016/s0021-9258(19)38892-1

PubMed ID: 7894484

Title: Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

PubMed ID: 7894484

DOI: 10.1038/ng1294-345

PubMed ID: 1326540

Title: Endoglin is a component of the transforming growth factor-beta receptor system in human endothelial cells.

PubMed ID: 1326540

DOI: 10.1016/s0021-9258(18)41732-2

PubMed ID: 16982625

Title: Identification of Tctex2beta, a novel dynein light chain family member that interacts with different transforming growth factor-beta receptors.

PubMed ID: 16982625

DOI: 10.1074/jbc.m608614200

PubMed ID: 17540773

Title: The interaction of endoglin with beta-arrestin2 regulates transforming growth factor-beta-mediated ERK activation and migration in endothelial cells.

PubMed ID: 17540773

DOI: 10.1074/jbc.m700176200

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21737454

Title: Soluble endoglin specifically binds bone morphogenetic proteins 9 and 10 via its orphan domain, inhibits blood vessel formation, and suppresses tumor growth.

PubMed ID: 21737454

DOI: 10.1074/jbc.m111.260133

PubMed ID: 22347366

Title: Structural and functional insights into endoglin ligand recognition and binding.

PubMed ID: 22347366

DOI: 10.1371/journal.pone.0029948

PubMed ID: 23300529

Title: Endoglin requirement for BMP9 signaling in endothelial cells reveals new mechanism of action for selective anti-endoglin antibodies.

PubMed ID: 23300529

DOI: 10.1371/journal.pone.0050920

PubMed ID: 28564608

Title: Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1.

PubMed ID: 28564608

DOI: 10.1016/j.celrep.2017.05.011

PubMed ID: 9245986

Title: Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.

PubMed ID: 9245986

DOI: 10.1086/513906

PubMed ID: 9157574

Title: A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia.

PubMed ID: 9157574

PubMed ID: 9554745

Title: Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

PubMed ID: 9554745

DOI: 10.1002/(sici)1098-1004(1998)11:4<286::aid-humu6>3.0.co;2-b

PubMed ID: 10545596

Title: Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

PubMed ID: 10545596

DOI: 10.1093/hmg/8.12.2171

PubMed ID: 10982033

Title: Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

PubMed ID: 10982033

DOI: 10.1007/s004390000326

PubMed ID: 10625079

Title: Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.

PubMed ID: 10625079

DOI: 10.1203/00006450-200001000-00008

PubMed ID: 15024723

Title: Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

PubMed ID: 15024723

DOI: 10.1002/humu.20017

PubMed ID: 15712270

Title: Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.

PubMed ID: 15712270

DOI: 10.1002/humu.9311

PubMed ID: 16752392

Title: Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.

PubMed ID: 16752392

DOI: 10.1002/humu.20342

PubMed ID: 16525724

Title: Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.

PubMed ID: 16525724

PubMed ID: 20414677

Title: Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

PubMed ID: 20414677

DOI: 10.1007/s00439-010-0825-4

Sequence Information:

  • Length: 658
  • Mass: 70578
  • Checksum: 49CA2CE013298D17
  • Sequence:
    • MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA 
ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY 
NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS 
FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL 
SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL 
GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ 
TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM 
ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS 
PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP 
IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF 
LIGALLTAAL WYIYSHTRSP SKREPVVAVA APASSESSST NHSIGSTQST PCSTSSMA

Genular Protein ID: 1249722324

Symbol: Q5T9B9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5T9B9

Database IDs:

ARBA 2 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 ExpressionAtlas 1 GO 13 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 1 Pfam 2 PharmGKB 1 RefSeq 1 SAM 2 SMR 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

Sequence Information:

  • Length: 625
  • Mass: 67542
  • Checksum: 8D8E510E5CB05812
  • Sequence:
    • MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA 
ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY 
NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS 
FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL 
SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL 
GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ 
TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM 
ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS 
PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP 
IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF 
LIGALLTAAL WYIYSHTREY PRPPQ

Genular Protein ID: 3861710801

Symbol: Q96CG0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q96CG0

Database IDs:

ARBA 2 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 GO 12 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 RefSeq 2 SAM 3 SMR 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 658
  • Mass: 70636
  • Checksum: 724C2EE4981E2F9D
  • Sequence:
    • MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERD EVTYTTSQVS KGCVAQAPNA 
ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY 
NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS 
FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL 
SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL 
GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ 
TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM 
ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS 
PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP 
IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF 
LIGALLTAAL WYIYSHTRSP SKREPVVAVA APASSESSST NHSIGSTQST PCSTSSMA

Genular Protein ID: 1165298801

Symbol: F5GX88_HUMAN

Name: N/A

UniProtKB Accession Codes:

F5GX88

Database IDs:

ARBA 2 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 3 ExpressionAtlas 1 GO 2 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 2 SMR 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 476
  • Mass: 51140
  • Checksum: B4D81866E71F35F9
  • Sequence:
    • MLEASQDMGR TLEWRPRTPA LVRGCHLEGV AGHKEAHILR VLPGHSAGPR TVTVKVELSC 
APGDLDAVLI LQGPPYVSWL IDANHNMQIW TTGEYSFKIF PEKNIRGFKL PDTPQGLLGE 
ARMLNASIVA SFVELPLASI VSLHASSCGG RLQTSPAPIQ TTPPKDTCSP ELLMSLIQTK 
CADDAMTLVL KKELVAHLKC TITGLTFWDP SCEAEDRGDK FVLRSAYSSC GMQVSASMIS 
NEAVVNILSS SSPQRKKVHC LNMDSLSFQL GLYLSPHFLQ ASNTIEPGQQ SFVQVRVSPS 
VSEFLLQLDS CHLDLGPEGG TVELIQGRAA KGNCVSLLSP SPEGDPRFSF LLHFYTVPIP 
KTGTLSCTVA LRPKTGSQDQ EVHRTVFMRL NIISPDLSGC TSKGLVLPAV LGITFGAFLI 
GALLTAALWY IYSHTRSPSK REPVVAVAAP ASSESSSTNH SIGSTQSTPC STSSMA

Genular Protein ID: 2216601677

Symbol: B7Z6Y5_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z6Y5

Database IDs:

ARBA 2 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 12 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 RefSeq 1 SAM 2

Sequence Information:

  • Length: 476
  • Mass: 51154
  • Checksum: 6486B720226BF90C
  • Sequence:
    • MLEASQDMGR TLEWRPRTPA LVRGCHLEGV AGHKEAHILR VLPGHSAGPR TVTVKVELSC 
APGDLDAVLI LQGPPYVSWL IDANHNMQIW TTGEYSFKIF PEKNIRGFKL PDTPQGLLGE 
ARMLNASIVA SFLELPLASI VSLHASSCGG RLQTSPAPIQ TTPPKDTCSP ELLMSLIQTK 
CADDAMTLVL KKELVAHLKC TITGLTFWDP SCEAEDRGDK FVLRSAYSSC GMQVSASMIS 
NEAVVNILSS SSPQRKKVHC LNMDSLSFQL GLYLSPHFLQ ASNTIEPGQQ SFVQVRVSPS 
VSEFLLQLDS CHLDLGPEGG TVELIQGRAA KGNCVSLLSP SPEGDPRFSF LLHFYTVPIP 
KTGTLSCTVA LRPKTGSQDQ EVHRTVFMRL NIISPDLSGC TSKGLVLPAV LGITFGAFLI 
GALLTAALWY IYSHTRSPSK REPVVAVAAP ASSESSSTNH SIGSTQSTPC STSSMA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.