| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 2022 |
Name | ENG |
Synonym | CD105|END|HHT1|ORW|ORW1;endoglin;ENG;endoglin |
Definition | CD105 antigen |
Position | 9q34.11 |
Gene Type | protein-coding |
|
PAH Type |
Description |
PAH | Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. |
PAH | Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension. |
PAH | Potential biomarkers for detecting pulmonary arterial hypertension in patients with systemic sclerosis. |
PAH | A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. |
PAH | "Some pathways in our model showed the same expression patterns in IPAH, which included bone morphogenetic protein (BMP) signaling with down-regulation of BMP receptor type 2, activin-like kinase type 1, and endoglin." |
PAH | "Five mutations in the bone morphogenetic protein type II receptor (BMPR2) gene, 2 Activin A receptor type II-like kinase-1 (ACVRL1) mutations and one Endoglin (ENG) mutation were found in the 29 I/HPAH children. Two mutations in BMPR2 and one mutation in ACVRL1 and ENG, respectively, are described for the first time." |
PH | Spontaneous adult-onset pulmonary arterial hypertension attributable to increased endothelial oxidative stress in a murine model of hereditary hemorrhagic telangiectasia. |
| More detail of all Human literatures about ENG | |
|
Pathways and Diseases |
|
Pathway | HIF-1-alpha transcription factor network;PID Curated;200172 |
Pathway | ALK1 signaling events;PID Curated;200126 |
Disease | Scleroderma;FunDO |
Disease | Hepatitis C;FunDO |
Disease | Cancer;FunDO |
Disease | Psoriasis;FunDO |
Disease | Hypertension, Pulmonary;FunDO |
Disease | Amyotrophic lateral sclerosis;FunDO |
Disease | Pancreatitis;FunDO |
Disease | Systemic scleroderma;FunDO |
Disease | pulmonary arterial hypertension sclerosis, systemic;GAD |
Disease | Metabolic syndrome;NHGRI |
Disease | Pre-Eclampsia;FunDO |
Disease | Hereditary hemorrhagic telangiectasia-1;OMIM |
Disease | Capillaries disease;FunDO |
Disease | Diabetes mellitus;FunDO |
Disease | Moyamoya disease;FunDO |
Disease | Intracranial aneurysm;FunDO |
Disease | CARDIOVASCULAR;GAD |
Disease | Endometriosis;FunDO |
Disease | Growth retardation;FunDO |
Disease | arteriovenous dysplasias brain hemorrhage;GAD |
Disease | Intracranial Aneurysm;GAD |
Disease | Atherosclerosis;FunDO |
|
External Links |
|
Links to Entrez Gene | 2022 |
Links to all GeneRIF Items | 2022 |
Links to iHOP | 2022 |
|
Sequence Information |
|
Nucleotide Sequence |
>2022 : length: 1878 atggaccgcggcacgctccctctggctgttgccctgctgctggccagctgcagcctcagc cccacaagtcttgcagaaacagtccattgtgaccttcagcctgtgggccccgagaggggc gaggtgacatataccactagccaggtctcgaagggctgcgtggctcaggcccccaatgcc atccttgaagtccatgtcctcttcctggagttcccaacgggcccgtcacagctggagctg actctccaggcatccaagcaaaatggcacctggccccgagaggtgcttctggtcctcagt gtaaacagcagtgtcttcctgcatctccaggccctgggaatcccactgcacttggcctac aattccagcctggtcaccttccaagagcccccgggggtcaacaccacagagctgccatcc ttccccaagacccagatccttgagtgggcagctgagaggggccccatcacctctgctgct gagctgaatgacccccagagcatcctcctccgactgggccaagcccaggggtcactgtcc ttctgcatgctggaagccagccaggacatgggccgcacgctcgagtggcggccgcgtact ccagccttggtccggggctgccacttggaaggcgtggccggccacaaggaggcgcacatc ctgagggtcctgccgggccactcggccgggccccggacggtgacggtgaaggtggaactg agctgcgcacccggggatctcgatgccgtcctcatcctgcagggtcccccctacgtgtcc tggctcatcgacgccaaccacaacatgcagatctggaccactggagaatactccttcaag atctttccagagaaaaacattcgtggcttcaagctcccagacacacctcaaggcctcctg ggggaggcccggatgctcaatgccagcattgtggcatccttcgtggagctaccgctggcc agcattgtctcacttcatgcctccagctgcggtggtaggctgcagacctcacccgcaccg atccagaccactcctcccaaggacacttgtagcccggagctgctcatgtccttgatccag acaaagtgtgccgacgacgccatgaccctggtactaaagaaagagcttgttgcgcatttg aagtgcaccatcacgggcctgaccttctgggaccccagctgtgaggcagaggacaggggt gacaagtttgtcttgcgcagtgcttactccagctgtggcatgcaggtgtcagcaagtatg atcagcaatgaggcggtggtcaatatcctgtcgagctcatcaccacagcggaaaaaggtg cactgcctcaacatggacagcctctctttccagctgggcctctacctcagcccacacttc ctccaggcctccaacaccatcgagccggggcagcagagctttgtgcaggtcagagtgtcc ccatccgtctccgagttcctgctccagttagacagctgccacctggacttggggcctgag ggaggcaccgtggaactcatccagggccgggcggccaagggcaactgtgtgagcctgctg tccccaagccccgagggtgacccgcgcttcagcttcctcctccacttctacacagtaccc atacccaaaaccggcaccctcagctgcacggtagccctgcgtcccaagaccgggtctcaa gaccaggaagtccataggactgtcttcatgcgcttgaacatcatcagccctgacctgtct ggttgcacaagcaaaggcctcgtcctgcccgccgtgctgggcatcacctttggtgccttc ctcatcggggccctgctcactgctgcactctggtacatctactcgcacacgcgtgagtac cccaggcccccacagtga |
Protein Sequence |
>2022 : length: 625 MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNA ILEVHVLFLEFPTGPSQLELTLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAY NSSLVTFQEPPGVNTTELPSFPKTQILEWAAERGPITSAAELNDPQSILLRLGQAQGSLS FCMLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVEL SCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLL GEARMLNASIVASFVELPLASIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQ TKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASM ISNEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVS PSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVP IPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAF LIGALLTAALWYIYSHTREYPRPPQ |