|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CD105
gptkb:ORW
END
|
|
gptkbp:associatedWith
|
gptkb:hereditary_hemorrhagic_telangiectasia_type_1
|
|
gptkbp:biologicalProcess
|
signal transduction
wound healing
cell adhesion
inflammatory response
receptor activity
vascular development
blood vessel morphogenesis
|
|
gptkbp:cellularComponent
|
gptkb:plasma_membrane
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:encodes
|
endoglin protein
|
|
gptkbp:Entrez_Gene_ID
|
2022
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:skin
gptkb:skeletal_muscle
gptkb:kidney
gptkb:placenta
gptkb:prostate
gptkb:small_intestine
gptkb:testis
gptkb:thymus
brain
embryonic development
heart
retina
liver
spleen
adipose tissue
bone marrow
colon
lymph node
pancreas
uterus
endothelial cells
placental villi
tumor vasculature
umbilical vein endothelial cells
|
|
gptkbp:function
|
TGF-beta receptor complex component
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
3348
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ENG gene
|
|
gptkbp:interactsWith
|
gptkb:ALK1
gptkb:BMP9
gptkb:BMP10
gptkb:TGF-beta1
gptkb:TGF-beta3
|
|
gptkbp:length
|
15 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_9
9q34.11
|
|
gptkbp:marking
|
tumor angiogenesis
endothelial cell proliferation
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
vascular malformations
splice site
|
|
gptkbp:mutationInheritance
|
autosomal dominant
|
|
gptkbp:OMIM
|
131195
|
|
gptkbp:orthologInMouse
|
gptkb:Eng
|
|
gptkbp:product
|
gptkb:endoglin
|
|
gptkbp:proteinFamily
|
gptkb:TGF-beta_superfamily_receptors
|
|
gptkbp:referenceGenome
|
gptkb:NM_000118
|
|
gptkbp:referenceSequenceProtein
|
gptkb:NP_000109
|
|
gptkbp:regulates
|
angiogenesis
|
|
gptkbp:significance
|
benign
pathogenic
likely pathogenic
uncertain significance
|
|
gptkbp:studiedBy
|
cancer research
vascular biology
cardiovascular disease research
|
|
gptkbp:UniProtID
|
P17813
|
|
gptkbp:usedInTherapy
|
anti-angiogenic therapy
|
|
gptkbp:bfsParent
|
gptkb:HHT
gptkb:hereditary_hemorrhagic_telangiectasia
|
|
gptkbp:bfsLayer
|
6
|