AlphaFold predicted structure
ENG · P17813
Mean pLDDT
80.1/ 100
Confident
658 residues
Confidence breakdown
- Very high(≥ 90)39%
- Confident(70–90)41%
- Low(50–70)8%
- Very low(< 50)13%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ENG
Chr 9q34.11endoglin
- Aliases:
- END, HHT1, CD105
- MANE:
- ENST00000373203.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bleeding and platelet disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCerebral vascular malformations
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHereditary haemorrhagic telangiectasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedInherited bleeding disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPulmonary arterial hypertension
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownVascular skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFamilial pulmonary fibrosis
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Disease associations (Open Targets)
telangiectasia, hereditary hemorrhagic, type 1
0.86hereditary hemorrhagic telangiectasia
0.84vascular disorder
0.60arteriovenous hemangioma/malformation
0.59capillary disorder
0.58capillary malformation
0.57congenital anomaly of the great arteries
0.57Abnormality of the cardiovascular system
0.56Abnormality of the vasculature
0.55Abnormal cardiovascular system morphology
0.55
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Endoglin
Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as a TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:21737454, PubMed:22347366, PubMed:23300529, PubMed:8370410). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529)
Diseases associated with ENG
Curated MONDO disease pages that list ENG among their top associated genes.