ENG - endoglin Gene
Also Known as END; HHT1; ORW1
Species: Homo sapiens
About ENG
This gene has 5 transcripts (splice variants), 159 orthologues, 2 paralogues and is associated with 6 phenotypes. Broad expression in spleen (RPKM 69.2), lung (RPKM 66.7) and 24 other tissues.
Summary
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 affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of Cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
ENG Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_000118.4 | NP_000109.1 | endoglin isoform 2 precursor |
| NM_001114753.3 | NP_001108225.1 | endoglin isoform 1 precursor |
| NM_001278138.2 | NP_001265067.1 | endoglin isoform 3 |
| NM_001406715.1 | NP_001393644.1 | endoglin isoform 4 precursor |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
18223685 | GOA |
| located in external side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
1537377 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
19004009 | GOA |
| part of receptor complex |
IPI
IPI: Inferred from physical interaction
|
9872992 | GOA |
ENG Protein Structure
Zona_pellucida: Zona pellucida-like domain (362 - 436)
Zona_pellucida: Zona pellucida-like domain (444 - 558)
- 0
- 200
- 400
- 600
- 658 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
endoglin |
|
ENG Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ENG | P17813 | LGALS3 | Homo sapiens | P17931 | 31540324 | |
|
Intra
|
ENG | P17813 | LGALS3 | Homo sapiens | P17931 | 31540324 | |
|
Intra
|
ENG | P17813 | LGALS3 | Homo sapiens | P17931 | 31540324 | |
|
Intra
|
ENG | P17813 | LGALS3 | Homo sapiens | P17931 | 31540324 | |
|
Intra
|
ENG | P17813 | ITGA5 | Homo sapiens | P08648 | 22940691 | |
|
Intra
|
ENG | P17813 | ITGA5 | Homo sapiens | P08648 | 22940691 | |
|
Intra
|
ENG | P17813 | Q9UK05-PRO_0000033903 | Homo sapiens | Q9UK05-PRO_0000033903 | 28564608 | |
|
Intra
|
ENG | P17813 | TRIM21 | Homo sapiens | P19474 | 31540324 | |
|
Intra
|
ENG | P17813 | TRIM21 | Homo sapiens | P19474 | 31540324 | |
|
Intra
|
ENG | P17813 | TRIM21 | Homo sapiens | P19474 | 31540324 | |
|
Intra
|
ENG | P17813 | ITGB1 | Homo sapiens | P05556 | 22940691 | |
|
Intra
|
ENG | P17813 | ITGB1 | Homo sapiens | P05556 | 22940691 | |
|
Intra
|
ENG | P17813 | TGFB1 | Homo sapiens | P01137 | 20856203 |
Recombinant ENG Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7776 | CD105/Endoglin Protein, Human (Trx-His) | AAH14271.1 (E26-Q176) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P78431 | CD105/Endoglin Protein, Human (HEK293, His-Avi) | P17813-1 (E26-G586) | ≥ 95%, as determined by Bis-Tris PAGE. |
ENG Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80591 | CD105 Antibody (YA547) | WB, IHC-P, IP | Human |
| HY-P80591A | CD105 Antibody (YA547)(PBS only) | WB, IHC-P, IP | Human |
| HY-P84140 | CD105 Antibody (YA3837) | IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P84140A | CD105 Antibody (YA3837)(PBS only) | IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P85081 | CD105 Antibody (YA4773) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P86706 | CD105 Antibody (YA6398) | WB | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
|
| Pulmonary Arteriovenous Malformation |
|
|
| Pulmonary Arteriovenous Fistulas |
|
|
| Arteriovenous Malformations Of The Brain |
|
|
| Pulmonary Hypertension, Primary, 1 |
|
|
| Systemic Lupus Erythematosus |
|
|
| Weber Syndrome |
|
|
| Telangiectasis |
|
|
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
|
| Familial Cerebral Saccular Aneurysm |
|
|
| Heritable Pulmonary Arterial Hypertension |
|
|
| Arteriovenous Malformation |
|
|
| Angiodysplasia |
|
|
| Pre-Eclampsia |
|
|
| Placental Insufficiency |
|
|
| Trachoma |
|
|
| Vascular Cancer |
|
|
| Eclampsia |
|
|
| Renal Fibrosis |
|
|
| Oral Submucous Fibrosis |
|
|
| Hellp Syndrome |
|
|
| Hepatopulmonary Syndrome |
|
|
| Epiglottis Cancer |
|
|
| Ureteral Obstruction |
|
|
| Hemangioma |
|
|
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
|
| Congenital Granular Cell Tumor |
|
|
| Osteonecrosis |
|
|
| Pulmonary Hypertension |
|
|
| Cardiovascular Organ Benign Neoplasm |
|
|
| Bone Squamous Cell Carcinoma |
|
|
| Twin-To-Twin Transfusion Syndrome |
|
|
| Vascular Disease |
|
|
| Nerve Fibre Bundle Defect |
|
|
| Dental Pulp Necrosis |
|
|
| Colorectal Cancer |
|
|
| Severe Pre-Eclampsia |
|
|
| Dental Pulp Disease |
|
|
| Mild Pre-Eclampsia |
|
|
| Sexual Masochism |
|
|
| Limb Ischemia |
|
|
| Anal Fistula |
|
|
| Neural Tube Defects |
|
|
| Heart Disease |
|
|
| Adhesions Of Uterus |
|
|
| Tibial Nerve Palsy |
|
|
| Bone Cancer |
|
|
| Myocardial Infarction |
|
|
| Placental Abruption |
|
|
| Oligodendroglioma |
|
|
| Early Congenital Syphilis |
|
|
| Peripheral Vascular Disease |
|
|
| Pulmonary Venoocclusive Disease |
|
|
| Kidney Disease |
|
|
| Myelofibrosis |
|
|
| Polycystic Kidney Disease |
|
|
| Chronic Pulmonary Heart Disease |
|
|
| Maxillonasal Dysplasia, Binder Type |
|
|
| Germ Cell And Embryonal Cancer |
|
|
| Malaria |
|
|
| Cartilage Disease |
|
|
| Ovarian Cancer |
|
|
| Adult Teratoma |
|
|
| Late Congenital Syphilis |
|
|
| Gastric Cancer |
|
|
| Capillary Lymphangioma |
|
|
| Pancreatic Cancer |
|
|
| Germ Cell Cancer |
|
|
| Thrombocytopenia |
|
|
| Brittle Bone Disorder |
|
|
| Prostate Cancer |
|
|
| Hepatocellular Carcinoma |
|
|
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
|
| Retinitis Pigmentosa 44 |
|
|
| Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
|
| Hypertension, Essential |
|
|
| Petrous Apex Meningioma |
|
|
| Stroke, Ischemic |
|
|
| Familiar Ovarian Carcinoma |
|
|
| Deficiency Anemia |
|
|
| Diabetes Mellitus |
|
|
| Intracranial Cavernous Angioma |
|
|
| Intracranial Structure Hemangioma |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Breast Cancer |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Melanoma, Uveal |
|
|
| Leukemia, Chronic Myeloid |
|
|
| Osteochondrodysplasia |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | ENG | VGNC | VGNC:40362 |
| Macaca mulatta | ENG | VGNC | VGNC:103259 |
| Felis catus | ENG | VGNC | VGNC:61861 |
| Bos taurus | ENG | VGNC | VGNC:102821 |
| Mus musculus | ENG | MGD | MGI:95392 |
| Rattus norvegicus | ENG | RGD | RGD:1593188 |
| Others | ENG | NCBI |