Gene table of ENG : endoglin

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ENG	OMIM link	Number of associated genes	genes
PS187300	TELANGIECTASIA, HEREDITARY HEMORRHAGIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	GDF2, ENG, ACVRL1

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Annotation of the gene ENG

Associated genes in ENSEMBL

ENSG00000106991

Associated proteins - SwissProt Accession ID

P17813

Associated PDB IDs

Cytogenetic Band

9q34.11

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cytokine receptor binding	GO:0005126	4.14
signaling receptor activity	GO:0038023	2.49
transforming growth factor beta receptor binding	GO:0005160	5.81
cytokine binding	GO:0019955	5.21
carbohydrate binding	GO:0030246	4.17
molecular transducer activity	GO:0060089	2.32
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
transforming growth factor beta-activated receptor activity	GO:0005024	7.44
transforming growth factor beta binding	GO:0050431	6.97
transforming growth factor beta receptor, cytoplasmic mediator activity	GO:0005072	7.44
receptor signaling protein activity	GO:0005057	4.76
growth factor binding	GO:0019838	4.89
BMP binding	GO:0036122	7.54
transmembrane receptor protein serine/threonine kinase activity	GO:0004675	6.91
protein serine/threonine kinase activity	GO:0004674	3.64
transferase activity	GO:0016740	1.95
protein kinase activity	GO:0004672	3.27
receptor activity	GO:0004872	2.32
type II transforming growth factor beta receptor binding	GO:0005114	7.79
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
kinase activity	GO:0016301	2.93
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
type I transforming growth factor beta receptor binding	GO:0034713	7.44
receptor binding	GO:0005102	2.43
carbohydrate derivative binding	GO:0097367	2.03
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
protein complex binding	GO:0032403	3.09
glycosaminoglycan binding	GO:0005539	4.42
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
transmembrane signaling receptor activity	GO:0004888	2.57
activin binding	GO:0048185	7.25
protein binding	GO:0005515	0.46
protein dimerization activity	GO:0046983	2.72
transmembrane receptor protein kinase activity	GO:0019199	5.32
galactose binding	GO:0005534	8.35
transmembrane receptor activity	GO:0099600	2.53
monosaccharide binding	GO:0048029	5.85