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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).
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
10
Cytoband
q11.22
Chromosome location (bp)
47322454 - 47327588
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Cytokine, Growth factor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Angiogenesis
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016]...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.
MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0001503[ossification] GO:0001525[angiogenesis] GO:0001569[branching involved in blood vessel morphogenesis] GO:0001570[vasculogenesis] GO:0001649[osteoblast differentiation] GO:0001937[negative regulation of endothelial cell proliferation] GO:0001938[positive regulation of endothelial cell proliferation] GO:0005125[cytokine activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0006366[transcription by RNA polymerase II] GO:0006879[cellular iron ion homeostasis] GO:0008083[growth factor activity] GO:0008156[negative regulation of DNA replication] GO:0010596[negative regulation of endothelial cell migration] GO:0010628[positive regulation of gene expression] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0016525[negative regulation of angiogenesis] GO:0030308[negative regulation of cell growth] GO:0030509[BMP signaling pathway] GO:0030513[positive regulation of BMP signaling pathway] GO:0032757[positive regulation of interleukin-8 production] GO:0032924[activin receptor signaling pathway] GO:0043537[negative regulation of blood vessel endothelial cell migration] GO:0045603[positive regulation of endothelial cell differentiation] GO:0045766[positive regulation of angiogenesis] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048514[blood vessel morphogenesis] GO:0051216[cartilage development] GO:0060389[pathway-restricted SMAD protein phosphorylation] GO:0060395[SMAD protein signal transduction] GO:0061036[positive regulation of cartilage development] GO:0070062[extracellular exosome] GO:0071773[cellular response to BMP stimulus] GO:2000279[negative regulation of DNA biosynthetic process]
The Human Protein Atlas project is funded
