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FLASH GENE
Symbol ENG contributors: mct - updated : 28-03-2015
HGNC name endoglin
HGNC id 3349
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an extracellular segment, encoded by exons 1
    • 12, with four potential glycosylation sites
  • a RGD motif
  • a transmembrane segment (1TM)
  • a short cytoplasmic tail containing a C terminal S/T(X) Z, three aminoacids sequence of interaction with proteins harboring a PDZ domain
  • an intracellular domain (exons 13 and 14)
    • conjugated GlycoP
    mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Eng
    Homologene
    FAMILY
    CATEGORY antigen , signaling , receptor membrane
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    text type I integral membrane protein; localizing to caveolae
    basic FUNCTION
  • proliferation associated antigen (marker of breast carcinoma), playing an important role in implantation and development of placenta
  • involved in cardiovascular development but also in vascular homeostasis
  • proliferation-associated and hypoxia-inducible protein expressed in endothelial cells
  • may playing a critical role in the binding of
    • endothelial cells to integrins and/or other RGD receptors
  • might undergo conformational adaptations upon TGF-beta binding
  • plays distinct and cell-autonomous roles invascular smooth muscle cell recruitment and arteriovenous specification via NR2F2 in angiogenesis that may contribute to ORW1
  • important role of endoglin in tumor cell plasticity and progression of aggressive tumors
  • essential for angiogenesis/vascular development and a co-receptor of TGFbeta
  • can suppress cell movement out of primary tumor as well as the formation of distant metastasis
  • endothelial-specific transforming growth factor beta (TGFB1) coreceptor essential for angiogenesis and vascular homeostasis
  • modulates the hematopoietic transcriptional network, most likely through regulation of BMP4 signaling
  • endothelial ENG interacts with leukocyte ITGA5B1 via its RGD motif, and this adhesion process is stimulated by the inflammatory chemokine CXCL12, suggesting a regulatory role for endoglin in transendothelial leukocyte trafficking
  • auxiliary receptor for transforming growth factor-beta (TGFB1), with important roles in vascular function
  • importance of ENG in both canonical and non-canonical TGFB1 signaling pathways modulating both the activation and quiescence of the endothelium during angiogenesis
  • ENG and and ACVRL1 contribute to several novel networks, including TGFB1 dependent and independent ones, critical for vascular function and potentially defective in hereditary hemorrhagic telangiectasia
  • has a critical function in the development of the vascular system
  • is required for efficient VEGFA-induced angiogenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    TGFB signaling pathway
    a component
  • homodimeric component of the TGFBR1 complex
  • forming a homodimer composed of disulfide linked subunits
  • forms a heteromeric complex with betaglycan (complex may be of critical significance in the regulation of TGFbeta signaling in chondrocytes)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TGF beta binding
  • suppress invasion by activating the SMAD1 transcription factor and selectively activates specific SMAD1-responsive genes, including JUNB, STAT1, and SOX4
  • GIPC1 is a critical component of endoglin function during developmental angiogenesis
  • PPP2R2B protein interacts with the ACVRL1/TGFBR2/ENG complex and recruits PP2A to nitric oxide synthase 3 (NOS3)
  • ENG is a critical mediator of autophagy, demonstrating a new transcriptional mechanism by which SMAD2 inhibits angiogenesis
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ORW1 , JPS4
    related resource Hemorrhagic Telangiectasia Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    higher in effusions compared to primary breast carcinomas and in post-chemotherapy compared to pre-chemotherapy effusion
    constitutional     --over  
    higher expression in severe preeclampsia or eclampsia than in normal pregnancy
    tumoral     --low  
    in prostate cancer
    constitutional     --low  
    independent predictor of short-term (30 days) cardiovascular mortality, and also predicts overall cardiovascular mortality during the follow-up in acute myocardial infarction
    constitutional     --over  
    in capillary hemangiomas
    Susceptibility to intracranial aneurysm
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
  • powerful tool in the prevention of pre-eclampsia -induced mortality
  • may be an important therapeutic target in metastatic breast cancer
  • targets for therapeutic intervention for patients with brain arteriovenous malformations
    • ANIMAL & CELL MODELS