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FLASH GENE

Symbol

ENG

contributors: mct - updated : 28-03-2015

HGNC name	endoglin
HGNC id	3349

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant ENGs - - - isoform ENGs 65 587 produced by the placenta 2006 16751767 soluble, present in pregnant women, elevated in preeclampsia and increased with disease severity interfering with TGFB1 signaling and NOS3 activation in endothelial cells, disrupting maintenance of vascular health NM_000118 14 - 3142 NP_000109 67.5 625 - 1998 9845534 overexpressed in preeclampsia NM_001114753 15 - 3072 NP_001108225 - 658 - 1998 9845534 NM_001278138 15 - 2817 NP_001265067 - 476 - 1998 9845534

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessel         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective cartilage

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic monocyte Cardiovascular endothelial cell Homo sapiens Lymphoid/Immune macrophage not specific chondrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	highly in syncytiotrophoblast and trophoblast cells

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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