Gene Symbol:	ENG ( CD105,END,FLJ41744,HHT1,ORW,ORW1 )
Gene Full Name:	endoglin
Band:	9q34.11
Quick Links	Entrez ID:2022; OMIM: 131195; Uniprot ID:EGLN_HUMAN; ENSEMBL ID: ENSG00000106991; HGNC ID: 3349
Relate to Another Database:	SFARIGene; denovo-db

GO ID	Evidence	Qualifier	GO_term	References
GO:0005615	IDA	-	extracellular space	19004009
GO:0005925	IDA	-	focal adhesion	21423176
GO:0009897	IDA	-	external side of plasma membrane	1537377
GO:0043235	IPI	-	receptor complex	9872992
GO:0070022	IC	-	transforming growth factor beta receptor complex	1326540
GO:0072563	IEA	-	endothelial microparticle	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0004888	NAS	-	transmembrane signaling receptor activity	18974388
GO:0005072	IDA	-	transforming growth factor beta receptor, cytoplasmic mediator activity	12015308
GO:0005114	IPI	-	type II transforming growth factor beta receptor binding	12015308
GO:0005114	ISS	-	type II transforming growth factor beta receptor binding	8294451
GO:0005515	IPI	-	protein binding	9872992
GO:0005534	IDA	-	galactose binding	3262645
GO:0005539	IDA	-	glycosaminoglycan binding	3262645
GO:0005539	ISS	-	glycosaminoglycan binding	8294451
GO:0034713	IPI	-	type I transforming growth factor beta receptor binding	12015308
GO:0034713	ISS	-	type I transforming growth factor beta receptor binding	8294451
GO:0036122	IPI	contributes_to	BMP binding	9872992
GO:0042803	IEA	-	protein homodimerization activity	-
GO:0048185	TAS	-	activin binding	11382917
GO:0050431	IPI	-	transforming growth factor beta binding	1326540
GO:0050431	IPI	contributes_to	transforming growth factor beta binding	9872992

GO ID	Evidence	Qualifier	GO_term	References
GO:0001300	IEA	-	chronological cell aging	-
GO:0001569	ISS	-	branching involved in blood vessel morphogenesis	8194490
GO:0001570	IMP	-	vasculogenesis	7894484
GO:0001934	IDA	-	positive regulation of protein phosphorylation	12015308
GO:0001947	ISS	-	heart looping	8194490
GO:0002040	ISS	NOT	sprouting angiogenesis	-
GO:0003148	ISS	-	outflow tract septum morphogenesis	-
GO:0003198	ISS	-	epithelial to mesenchymal transition involved in endocardial cushion formation	-
GO:0003203	ISS	-	endocardial cushion morphogenesis	-
GO:0003208	ISS	-	cardiac ventricle morphogenesis	-
GO:0003209	ISS	-	cardiac atrium morphogenesis	-
GO:0003222	ISS	-	ventricular trabecula myocardium morphogenesis	-
GO:0003273	IEA	-	cell migration involved in endocardial cushion formation	-
GO:0006355	IMP	-	regulation of transcription, DNA-templated	15702480
GO:0007155	IEA	-	cell adhesion	-
GO:0010629	ISS	-	negative regulation of gene expression	-
GO:0010665	ISS	NOT	regulation of cardiac muscle cell apoptotic process	-
GO:0010862	IDA	-	positive regulation of pathway-restricted SMAD protein phosphorylation	12015308
GO:0017015	IDA	-	regulation of transforming growth factor beta receptor signaling pathway	15702480
GO:0022009	IMP	-	central nervous system vasculogenesis	7894484
GO:0030336	IDA	-	negative regulation of cell migration	19736306
GO:0030509	TAS	-	BMP signaling pathway	11382917
GO:0030513	IDA	-	positive regulation of BMP signaling pathway	17068149
GO:0031953	IDA	-	negative regulation of protein autophosphorylation	12015308
GO:0031960	IEA	-	response to corticosteroid	-
GO:0032967	IEA	-	positive regulation of collagen biosynthetic process	-
GO:0035912	ISS	-	dorsal aorta morphogenesis	-
GO:0042493	IEA	-	response to drug	-
GO:0045766	IEA	-	positive regulation of angiogenesis	-
GO:0045944	ISS	-	positive regulation of transcription from RNA polymerase II promoter	-
GO:0048745	ISS	-	smooth muscle tissue development	8194490
GO:0048844	ISS	-	artery morphogenesis	8194490
GO:0048845	ISS	-	venous blood vessel morphogenesis	8194490
GO:0055009	ISS	-	atrial cardiac muscle tissue morphogenesis	-
GO:0060348	IEA	-	bone development	-
GO:0070278	IEA	-	extracellular matrix constituent secretion	-
GO:0071260	IEA	-	cellular response to mechanical stimulus	-
GO:0071559	IEA	-	response to transforming growth factor beta	-
GO:0090500	ISS	NOT	endocardial cushion to mesenchymal transition	-
GO:0097084	ISS	-	vascular smooth muscle cell development	-
GO:1905007	ISS	-	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	-
GO:1905065	ISS	-	positive regulation of vascular smooth muscle cell differentiation	-
GO:1905222	ISS	-	atrioventricular canal morphogenesis	-
GO:1905310	ISS	NOT	regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis	-
GO:2000136	ISS	NOT	regulation of cell proliferation involved in heart morphogenesis	-

Gene Symbol	Interactant	Interaction ID	References	Description
ENG	ACVR1	106605	9872992	Affinity Capture-Western
ENG	ACVR1	108337	9872992	Affinity Capture-Western
ENG	ACVR2A	106607	9872992	Affinity Capture-Western
ENG	ACVR2A	108337	9872992	Affinity Capture-Western
ENG	ACVR2B	106608	9872992	Affinity Capture-Western
ENG	ACVR2B	108337	9872992	Affinity Capture-Western
ENG	BMP2	107118	9872992	Affinity Capture-Western
ENG	BMP2	108337	9872992	Affinity Capture-Western
ENG	BMP7	107123	9872992	Affinity Capture-Western
ENG	BMP7	108337	9872992	Affinity Capture-Western
TGFBR1	ENG	108337	9872992 12015308	Affinity Capture-Western; Biochemical Activity
TGFBR1	ENG	112904	9872992 12015308	Affinity Capture-Western; Biochemical Activity
TGFBR2	ENG	112906	9872992 12015308	Affinity Capture-Western; Biochemical Activity
TGFBR2	ENG	108337	9872992 12015308	Affinity Capture-Western; Biochemical Activity

AutismKB 2.0

Annotation Details for ENG

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics