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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Candidate cardiovascular disease genes CD markers Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
9
Cytoband
q34.11
Chromosome location (bp)
127815013 - 127854658
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis 1,2. Required for normal structure and integrity of adult vasculature 3. Regulates the migration of vascular endothelial cells 4. Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors 5. Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors 6,7,8,9. Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 10,11,12....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Angiogenesis, Cell adhesion
Gene summary (Entrez)i
Useful information about the gene from 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 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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
CD markers Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Cancer-related genes Candidate cancer biomarkers Candidate cardiovascular disease genes Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001525[angiogenesis] GO:0001569[branching involved in blood vessel morphogenesis] GO:0001570[vasculogenesis] GO:0001666[response to hypoxia] GO:0001837[epithelial to mesenchymal transition] GO:0001934[positive regulation of protein phosphorylation] GO:0001937[negative regulation of endothelial cell proliferation] GO:0001947[heart looping] GO:0003084[positive regulation of systemic arterial blood pressure] GO:0003148[outflow tract septum morphogenesis] GO:0003198[epithelial to mesenchymal transition involved in endocardial cushion formation] GO:0003203[endocardial cushion morphogenesis] GO:0003208[cardiac ventricle morphogenesis] GO:0003209[cardiac atrium morphogenesis] GO:0003222[ventricular trabecula myocardium morphogenesis] GO:0004888[transmembrane signaling receptor activity] GO:0005024[transforming growth factor beta receptor activity] GO:0005114[type II transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005534[galactose binding] GO:0005539[glycosaminoglycan binding] GO:0005615[extracellular space] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0006355[regulation of DNA-templated transcription] GO:0007155[cell adhesion] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0009897[external side of plasma membrane] GO:0009986[cell surface] GO:0010629[negative regulation of gene expression] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0015026[coreceptor activity] GO:0016020[membrane] GO:0016477[cell migration] GO:0016604[nuclear body] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0022009[central nervous system vasculogenesis] GO:0030155[regulation of cell adhesion] GO:0030336[negative regulation of cell migration] GO:0030509[BMP signaling pathway] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030513[positive regulation of BMP signaling pathway] GO:0031953[negative regulation of protein autophosphorylation] GO:0034713[type I transforming growth factor beta receptor binding] GO:0035912[dorsal aorta morphogenesis] GO:0036122[BMP binding] GO:0042127[regulation of cell population proliferation] GO:0042325[regulation of phosphorylation] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043235[receptor complex] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048185[activin binding] GO:0048745[smooth muscle tissue development] GO:0048844[artery morphogenesis] GO:0048845[venous blood vessel morphogenesis] GO:0050431[transforming growth factor beta binding] GO:0051001[negative regulation of nitric-oxide synthase activity] GO:0051897[positive regulation of protein kinase B signaling] GO:0055009[atrial cardiac muscle tissue morphogenesis] GO:0070483[detection of hypoxia] GO:0097084[vascular associated smooth muscle cell development] GO:1905007[positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation] GO:1905065[positive regulation of vascular associated smooth muscle cell differentiation] GO:1905222[atrioventricular canal morphogenesis]
CD markers Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Cancer-related genes Candidate cancer biomarkers Candidate cardiovascular disease genes Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001525[angiogenesis] GO:0001569[branching involved in blood vessel morphogenesis] GO:0001570[vasculogenesis] GO:0001666[response to hypoxia] GO:0001837[epithelial to mesenchymal transition] GO:0001934[positive regulation of protein phosphorylation] GO:0001947[heart looping] GO:0003148[outflow tract septum morphogenesis] GO:0003198[epithelial to mesenchymal transition involved in endocardial cushion formation] GO:0003203[endocardial cushion morphogenesis] GO:0003208[cardiac ventricle morphogenesis] GO:0003209[cardiac atrium morphogenesis] GO:0003222[ventricular trabecula myocardium morphogenesis] GO:0003273[cell migration involved in endocardial cushion formation] GO:0004888[transmembrane signaling receptor activity] GO:0005024[transforming growth factor beta receptor activity] GO:0005114[type II transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005534[galactose binding] GO:0005539[glycosaminoglycan binding] GO:0005615[extracellular space] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0006355[regulation of DNA-templated transcription] GO:0007155[cell adhesion] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007507[heart development] GO:0009410[response to xenobiotic stimulus] GO:0009897[external side of plasma membrane] GO:0009986[cell surface] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0015026[coreceptor activity] GO:0016020[membrane] GO:0016477[cell migration] GO:0016604[nuclear body] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0022009[central nervous system vasculogenesis] GO:0022617[extracellular matrix disassembly] GO:0030155[regulation of cell adhesion] GO:0030336[negative regulation of cell migration] GO:0030509[BMP signaling pathway] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030513[positive regulation of BMP signaling pathway] GO:0031953[negative regulation of protein autophosphorylation] GO:0031960[response to corticosteroid] GO:0032967[positive regulation of collagen biosynthetic process] GO:0034713[type I transforming growth factor beta receptor binding] GO:0035912[dorsal aorta morphogenesis] GO:0036122[BMP binding] GO:0042060[wound healing] GO:0042127[regulation of cell population proliferation] GO:0042325[regulation of phosphorylation] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043235[receptor complex] GO:0045766[positive regulation of angiogenesis] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048185[activin binding] GO:0048745[smooth muscle tissue development] GO:0048844[artery morphogenesis] GO:0048845[venous blood vessel morphogenesis] GO:0048870[cell motility] GO:0050431[transforming growth factor beta binding] GO:0051897[positive regulation of protein kinase B signaling] GO:0055009[atrial cardiac muscle tissue morphogenesis] GO:0060326[cell chemotaxis] GO:0060348[bone development] GO:0060394[negative regulation of pathway-restricted SMAD protein phosphorylation] GO:0070278[extracellular matrix constituent secretion] GO:0070483[detection of hypoxia] GO:0071260[cellular response to mechanical stimulus] GO:0071559[response to transforming growth factor beta] GO:0072563[endothelial microparticle] GO:0097084[vascular associated smooth muscle cell development] GO:1905007[positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation] GO:1905065[positive regulation of vascular associated smooth muscle cell differentiation] GO:1905222[atrioventricular canal morphogenesis]
The Human Protein Atlas project is funded
