TISIDB

Summary
Symbol	ENG
Name	endoglin
Aliases	END; HHT1; CD105; ORW1; ORW; Osler-Rendu-Weber syndrome 1; CD105 antigen; CD antigen CD105
Chromosomal Location	9q34.11
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway

> Subcellular Location, Domain and Function [ TOP ]
Subcellular Location	Cell membrane Single-pass type I membrane protein
Domain	PF00100 Zona pellucida-like domain
Function	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 play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:8370410, PubMed:21737454, PubMed:22347366, PubMed:23300529). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529).

> Gene Ontology [ TOP ]
Biological Process	GO:0001300 chronological cell aging GO:0001501 skeletal system development GO:0001525 angiogenesis GO:0001569 patterning of blood vessels GO:0001570 vasculogenesis GO:0001763 morphogenesis of a branching structure GO:0001837 epithelial to mesenchymal transition GO:0001885 endothelial cell development GO:0001933 negative regulation of protein phosphorylation GO:0001947 heart looping GO:0002064 epithelial cell development GO:0003007 heart morphogenesis GO:0003143 embryonic heart tube morphogenesis GO:0003148 outflow tract septum morphogenesis GO:0003151 outflow tract morphogenesis GO:0003158 endothelium development GO:0003197 endocardial cushion development GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003203 endocardial cushion morphogenesis GO:0003205 cardiac chamber development GO:0003206 cardiac chamber morphogenesis GO:0003208 cardiac ventricle morphogenesis GO:0003209 cardiac atrium morphogenesis GO:0003222 ventricular trabecula myocardium morphogenesis GO:0003228 atrial cardiac muscle tissue development GO:0003229 ventricular cardiac muscle tissue development GO:0003230 cardiac atrium development GO:0003231 cardiac ventricle development GO:0003272 endocardial cushion formation GO:0003273 cell migration involved in endocardial cushion formation GO:0003279 cardiac septum development GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007179 transforming growth factor beta receptor signaling pathway GO:0007368 determination of left/right symmetry GO:0007389 pattern specification process GO:0007507 heart development GO:0007517 muscle organ development GO:0007568 aging GO:0007569 cell aging GO:0009612 response to mechanical stimulus GO:0009799 specification of symmetry GO:0009855 determination of bilateral symmetry GO:0010712 regulation of collagen metabolic process GO:0010714 positive regulation of collagen metabolic process GO:0010717 regulation of epithelial to mesenchymal transition GO:0010718 positive regulation of epithelial to mesenchymal transition GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0014045 establishment of endothelial blood-brain barrier GO:0014706 striated muscle tissue development GO:0017015 regulation of transforming growth factor beta receptor signaling pathway GO:0022009 central nervous system vasculogenesis GO:0030198 extracellular matrix organization GO:0030336 negative regulation of cell migration GO:0030509 BMP signaling pathway GO:0030510 regulation of BMP signaling pathway GO:0030513 positive regulation of BMP signaling pathway GO:0031952 regulation of protein autophosphorylation GO:0031953 negative regulation of protein autophosphorylation GO:0031960 response to corticosteroid GO:0032963 collagen metabolic process GO:0032964 collagen biosynthetic process GO:0032965 regulation of collagen biosynthetic process GO:0032967 positive regulation of collagen biosynthetic process GO:0035050 embryonic heart tube development GO:0035239 tube morphogenesis GO:0035886 vascular smooth muscle cell differentiation GO:0035904 aorta development GO:0035907 dorsal aorta development GO:0035909 aorta morphogenesis GO:0035912 dorsal aorta morphogenesis GO:0040013 negative regulation of locomotion GO:0042326 negative regulation of phosphorylation GO:0042692 muscle cell differentiation GO:0043062 extracellular structure organization GO:0044236 multicellular organism metabolic process GO:0044246 regulation of multicellular organismal metabolic process GO:0044253 positive regulation of multicellular organismal metabolic process GO:0044259 multicellular organismal macromolecule metabolic process GO:0045446 endothelial cell differentiation GO:0045765 regulation of angiogenesis GO:0045766 positive regulation of angiogenesis GO:0046777 protein autophosphorylation GO:0048514 blood vessel morphogenesis GO:0048545 response to steroid hormone GO:0048562 embryonic organ morphogenesis GO:0048568 embryonic organ development GO:0048644 muscle organ morphogenesis GO:0048738 cardiac muscle tissue development GO:0048745 smooth muscle tissue development GO:0048754 branching morphogenesis of an epithelial tube GO:0048762 mesenchymal cell differentiation GO:0048844 artery morphogenesis GO:0048845 venous blood vessel morphogenesis GO:0051145 smooth muscle cell differentiation GO:0051147 regulation of muscle cell differentiation GO:0051149 positive regulation of muscle cell differentiation GO:0051150 regulation of smooth muscle cell differentiation GO:0051152 positive regulation of smooth muscle cell differentiation GO:0051271 negative regulation of cellular component movement GO:0055001 muscle cell development GO:0055008 cardiac muscle tissue morphogenesis GO:0055009 atrial cardiac muscle tissue morphogenesis GO:0055010 ventricular cardiac muscle tissue morphogenesis GO:0060317 cardiac epithelial to mesenchymal transition GO:0060348 bone development GO:0060389 pathway-restricted SMAD protein phosphorylation GO:0060393 regulation of pathway-restricted SMAD protein phosphorylation GO:0060411 cardiac septum morphogenesis GO:0060415 muscle tissue morphogenesis GO:0060485 mesenchyme development GO:0060537 muscle tissue development GO:0060562 epithelial tube morphogenesis GO:0060840 artery development GO:0060841 venous blood vessel development GO:0060856 establishment of blood-brain barrier GO:0060973 cell migration involved in heart development GO:0061028 establishment of endothelial barrier GO:0061138 morphogenesis of a branching epithelium GO:0061371 determination of heart left/right asymmetry GO:0061383 trabecula morphogenesis GO:0061384 heart trabecula morphogenesis GO:0070278 extracellular matrix constituent secretion GO:0071214 cellular response to abiotic stimulus GO:0071260 cellular response to mechanical stimulus GO:0071496 cellular response to external stimulus GO:0071559 response to transforming growth factor beta GO:0071560 cellular response to transforming growth factor beta stimulus GO:0071772 response to BMP GO:0071773 cellular response to BMP stimulus GO:0072132 mesenchyme morphogenesis GO:0090092 regulation of transmembrane receptor protein serine/threonine kinase signaling pathway GO:0090100 positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway GO:0090287 regulation of cellular response to growth factor stimulus GO:0097084 vascular smooth muscle cell development GO:1901342 regulation of vasculature development GO:1903844 regulation of cellular response to transforming growth factor beta stimulus GO:1904018 positive regulation of vasculature development GO:1905005 regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905063 regulation of vascular smooth muscle cell differentiation GO:1905065 positive regulation of vascular smooth muscle cell differentiation GO:1905222 atrioventricular canal morphogenesis GO:2000027 regulation of organ morphogenesis GO:2000146 negative regulation of cell motility GO:2000826 regulation of heart morphogenesis
Molecular Function	GO:0005057 receptor signaling protein activity GO:0005072 transforming growth factor beta receptor, cytoplasmic mediator activity GO:0005114 type II transforming growth factor beta receptor binding GO:0005126 cytokine receptor binding GO:0005160 transforming growth factor beta receptor binding GO:0005534 galactose binding GO:0005539 glycosaminoglycan binding GO:0019838 growth factor binding GO:0019955 cytokine binding GO:0030246 carbohydrate binding GO:0034713 type I transforming growth factor beta receptor binding GO:0036122 BMP binding GO:0048029 monosaccharide binding GO:0048185 activin binding GO:0050431 transforming growth factor beta binding
Cellular Component	GO:0005924 cell-substrate adherens junction GO:0005925 focal adhesion GO:0009897 external side of plasma membrane GO:0030055 cell-substrate junction GO:0043235 receptor complex GO:0061695 transferase complex, transferring phosphorus-containing groups GO:0070022 transforming growth factor beta receptor homodimeric complex GO:0072562 blood microparticle GO:0072563 endothelial microparticle GO:0098552 side of membrane GO:0098802 plasma membrane receptor complex GO:1902554 serine/threonine protein kinase complex GO:1902911 protein kinase complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	-

Summary
Symbol	ENG
Name	endoglin
Aliases	END; HHT1; CD105; ORW1; ORW; Osler-Rendu-Weber syndrome 1; CD105 antigen; CD antigen CD105
Chromosomal Location	9q34.11
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between ENG and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.

> Text Mining

[ TOP ]

Literatures describing the relation between ENG and anti-tumor immunity in human cancer.

PMID	Cancer type	Relation to immunity	Evidence sentences
25092771	colon carcinoma	Promote immunity	This combination therapy also increased TILs, including tumor antigen-specific CD8 T cells, and elevated the expression of activation markers FAS-L, CXCL-9, CD31, and CD105 in MDSCs and TAMs, leading to reduced tumor volumes and an increase in the number of tumor-free animals.

Summary
Symbol	ENG
Name	endoglin
Aliases	END; HHT1; CD105; ORW1; ORW; Osler-Rendu-Weber syndrome 1; CD105 antigen; CD antigen CD105
Chromosomal Location	9q34.11
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.

> High-throughput Screening

[ TOP ]

Statistical results of ENG in screening data sets for detecting immune reponses.

PMID	Screening System	Cancer Type	Cell Line	Data Set	Statistical Results	Relation to immunity
29301958	CRISPR-Cas9	melanoma	B16F10	Pmel-1 T cell	NA/NS	NA/NS
29301958	CRISPR-Cas9	melanoma	B16F10	OT-1 T cell	NA/NS	NA/NS
28783722	CRISPR-Cas9	melanoma	Mel624	2CT-CRISPR	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX	NA/NS	NA/NS
25691366	RNAi	Breast cancer	MCF7	Luc-CTL assay	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Primary screen	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Secondary screen	NA/NS	NA/NS

Summary
Symbol	ENG
Name	endoglin
Aliases	END; HHT1; CD105; ORW1; ORW; Osler-Rendu-Weber syndrome 1; CD105 antigen; CD antigen CD105
Chromosomal Location	9q34.11
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders

> Expression difference between responders and non-responders

[ TOP ]

Points in the above scatter plot represent the expression difference of ENG in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	Log2 (Fold Change)	P value
1	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	14	12	-0.411	0.186
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	-0.862	0.748
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	-0.08	0.967
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0.322	0.425
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	-0.072	0.978
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0.825	0.814
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.209	0.658
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.167	0.925
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	0.197	0.924
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	1.383	0.524
11	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	2	0	0	1
12	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	2	8	2.35	0.455
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	-0.297	0.00601

> Mutation difference between responders and non-responders

[ TOP ]

Points in the above scatter plot represent the mutation difference of ENG in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	% Mut/Res	% Mut/NRes	% Diff (R vs NR)	Pval
1	25765070	Non-small cell lung cancer (NSCLC)	all	Anti-PD-1 (pembrolizumab)	14	17	0	0	0	1
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	0	0	0	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	0	0	0	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	3.7	4.1	-0.4	1
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	0	0	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	3.7	5.1	-1.4	1
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	4.8	0	4.8	1
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	0	0	0	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	7.7	0	7.7	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	11.1	6.2	4.9	1
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0	11.1	-11.1	1
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	25	0	25	0.364
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	0	0	0	1
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	0	0	0	1
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	0	0	0	1
16	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	11	13	0	0	0	1
17	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	6	1	0	0	0	1
18	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	5	12	0	0	0	1

Summary
Symbol	ENG
Name	endoglin
Aliases	END; HHT1; CD105; ORW1; ORW; Osler-Rendu-Weber syndrome 1; CD105 antigen; CD antigen CD105
Chromosomal Location	9q34.11
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of ENG. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.

> Lymphocyte [ TOP ]

Summary
Symbol	ENG
Name	endoglin
Aliases	END; HHT1; CD105; ORW1; ORW; Osler-Rendu-Weber syndrome 1; CD105 antigen; CD antigen CD105
Chromosomal Location	9q34.11
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of ENG. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by ENG. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	ENG
Name	endoglin
Aliases	END; HHT1; CD105; ORW1; ORW; Osler-Rendu-Weber syndrome 1; CD105 antigen; CD antigen CD105
Chromosomal Location	9q34.11
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of ENG. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor

> Chemokine [ TOP ]

> Receptor [ TOP ]

Summary
Symbol	ENG
Name	endoglin
Aliases	END; HHT1; CD105; ORW1; ORW; Osler-Rendu-Weber syndrome 1; CD105 antigen; CD antigen CD105
Chromosomal Location	9q34.11
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of ENG expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	ENG
Name	endoglin
Aliases	END; HHT1; CD105; ORW1; ORW; Osler-Rendu-Weber syndrome 1; CD105 antigen; CD antigen CD105
Chromosomal Location	9q34.11
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between ENG and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	ENG
Name	endoglin
Aliases	END; HHT1; CD105; ORW1; ORW; Osler-Rendu-Weber syndrome 1; CD105 antigen; CD antigen CD105
Chromosomal Location	9q34.11
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting ENG collected from DrugBank database.

> Drugs from DrugBank database [ TOP ]
There is no record.

Browse ENG