• Gene id: 2022

Gene Summary

• Gene Symbol: ENG   Gene   UCSC   Ensembl
• Aliases: END, HHT1, ORW1
• Gene name: endoglin
• Alternate names: endoglin, CD105 antigen,
• Gene location: 9q34.11 (127854772: 127815011)     Exons: 15     NC_000009.12
• Gene summary(Entrez): This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high aff
• OMIM: 614999

Protein Summary

• Protein general information: P17813  
  • Name: Endoglin (CD antigen CD105)
  • Length: 658  
  • Mass: 70578
  • Tissue specificity: Detected on umbilical veil endothelial cells (PubMed
• Sequence:

  MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNAILEVHVLFLEFPTGP
  SQLELTLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAYNSSLVTFQEPPGVNTTELPSFPKTQILEWA
  AERGPITSAAELNDPQSILLRLGQAQGSLSFCMLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEAHILRVLP
  GHSAGPRTVTVKVELSCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLL
  GEARMLNASIVASFVELPLASIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQTKCADDAMTLVLKKE
  LVAHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSF
  QLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPE
  GDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAF
  LIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA

• Structural information:
  • Protein Domains: (363..53-)
    (/note="ZP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00375,-ECO:0000305|PubMed:28564608")
  • Interpro: IPR001507  
  • PDB: 5HZV 5HZW 5I04
  • PDBsum: 5HZV 5HZW 5I04
  • DIP: 6246
  • STRING: ENSP00000362299
• Other Databases: GeneCards:  ENG  Malacards:  ENG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IBA	contributes to
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0001570	vasculogenesis	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0005539	glycosaminoglycan binding	IBA	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IBA	molecular function
GO:0005024	transforming growth factor beta-activated receptor activity	IBA	molecular function
GO:0001837	epithelial to mesenchymal transition	IBA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0070278	extracellular matrix constituent secretion	IEA	biological process
GO:0071559	response to transforming growth factor beta	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0001570	vasculogenesis	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0003148	outflow tract septum morphogenesis	IEA	biological process
GO:0003208	cardiac ventricle morphogenesis	IEA	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	IEA	biological process
GO:0003273	cell migration involved in endocardial cushion formation	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0048745	smooth muscle tissue development	IEA	biological process
GO:0048845	venous blood vessel morphogenesis	IEA	biological process
GO:0050431	transforming growth factor beta binding	IEA	molecular function
GO:0055009	atrial cardiac muscle tissue morphogenesis	IEA	biological process
GO:1905222	atrioventricular canal morphogenesis	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0005114	type II transforming growth factor beta receptor binding	IEA	molecular function
GO:0009986	cell surface	IEA	cellular component
GO:0031960	response to corticosteroid	IEA	biological process
GO:0032967	positive regulation of collagen biosynthetic process	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0001300	chronological cell aging	IEA	biological process
GO:0001569	branching involved in blood vessel morphogenesis	IEA	biological process
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	IEA	biological process
GO:0003203	endocardial cushion morphogenesis	IEA	biological process
GO:0003209	cardiac atrium morphogenesis	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0035912	dorsal aorta morphogenesis	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0072563	endothelial microparticle	IEA	cellular component
GO:0097084	vascular smooth muscle cell development	IEA	biological process
GO:1905007	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IEA	biological process
GO:1905065	positive regulation of vascular smooth muscle cell differentiation	IEA	biological process
GO:0050431	transforming growth factor beta binding	IPI	contributes to
GO:0050431	transforming growth factor beta binding	IPI	contributes to
GO:0036122	BMP binding	IPI	contributes to
GO:0034713	type I transforming growth factor beta receptor binding	ISS	molecular function
GO:0034713	type I transforming growth factor beta receptor binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0005534	galactose binding	IDA	molecular function
GO:0005539	glycosaminoglycan binding	IDA	molecular function
GO:0004888	transmembrane signaling receptor activity	NAS	molecular function
GO:0015026	coreceptor activity	IPI	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	ISS	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IPI	molecular function
GO:0005539	glycosaminoglycan binding	ISS	molecular function
GO:0048185	activin binding	TAS	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0030513	positive regulation of BMP signaling pathway	IDA	biological process
GO:0031953	negative regulation of protein autophosphorylation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001570	vasculogenesis	IMP	biological process
GO:0001947	heart looping	ISS	biological process
GO:0022009	central nervous system vasculogenesis	IMP	biological process
GO:0048745	smooth muscle tissue development	ISS	biological process
GO:0048845	venous blood vessel morphogenesis	ISS	biological process
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0043235	receptor complex	IPI	cellular component
GO:0043235	receptor complex	IPI	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0003148	outflow tract septum morphogenesis	ISS	biological process
GO:0055009	atrial cardiac muscle tissue morphogenesis	ISS	biological process
GO:1905310	regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis	ISS	NOT|biological process
GO:0002040	sprouting angiogenesis	ISS	NOT|biological process
GO:0001947	heart looping	ISS	biological process
GO:0003208	cardiac ventricle morphogenesis	ISS	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	ISS	biological process
GO:1905222	atrioventricular canal morphogenesis	ISS	biological process
GO:0001569	branching involved in blood vessel morphogenesis	ISS	biological process
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0048844	artery morphogenesis	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0035912	dorsal aorta morphogenesis	ISS	biological process
GO:0090500	endocardial cushion to mesenchymal transition	ISS	NOT|biological process
GO:0010665	regulation of cardiac muscle cell apoptotic process	ISS	NOT|biological process
GO:0097084	vascular smooth muscle cell development	ISS	biological process
GO:1905065	positive regulation of vascular smooth muscle cell differentiation	ISS	biological process
GO:2000136	regulation of cell proliferation involved in heart morphogenesis	ISS	NOT|biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	ISS	biological process
GO:1905007	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0003209	cardiac atrium morphogenesis	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0051897	positive regulation of protein kinase B signaling	IGI	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
Pulmonary arterial hypertension	KEGG:H01621
Hereditary hemorrhagic telangiectasia	KEGG:H00533
Pulmonary arterial hypertension	KEGG:H01621
Hereditary hemorrhagic telangiectasia	KEGG:H00533
Arteriovenous malformations of the brain	PMID:16179574
Prostate cancer	PMID:23262399
Lymphocytic leukemia	PMID:25030442
Pre-eclampsia	PMID:23460287
Intracranial aneurysm	PMID:10223461
Arteriovenous malformation	PMID:8728706
secondary hyperparathyroidism	PMID:18398016
hereditary hemorrhagic telangiectasia	PMID:15907823
hereditary hemorrhagic telangiectasia	PMID:15375013
hereditary hemorrhagic telangiectasia	PMID:16542389
hereditary hemorrhagic telangiectasia	PMID:15024723
hereditary hemorrhagic telangiectasia	PMID:16752392
hereditary hemorrhagic telangiectasia	PMID:7894484
hereditary hemorrhagic telangiectasia	PMID:9245986
Breast cancer	PMID:11691802
Coronary artery disease	PMID:21667051
clear cell renal cell carcinoma	PMID:22204709
clear cell renal cell carcinoma	PMID:16536758
Diabetic retinopathy	PMID:16202216
multiple myeloma	PMID:23576184
acute lymphocytic leukemia	PMID:17572488
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq