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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 Disease related genes Human disease related genes
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
1
Cytoband
q41
Chromosome location (bp)
218345336 - 218444619
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
[Transforming growth factor beta-2 proprotein]: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Growth factor, Mitogen
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 a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000902[cell morphogenesis] GO:0001501[skeletal system development] GO:0001540[amyloid-beta binding] GO:0001654[eye development] GO:0001666[response to hypoxia] GO:0001822[kidney development] GO:0001837[epithelial to mesenchymal transition] GO:0001843[neural tube closure] GO:0001942[hair follicle development] GO:0003007[heart morphogenesis] GO:0003148[outflow tract septum morphogenesis] GO:0003149[membranous septum morphogenesis] GO:0003179[heart valve morphogenesis] GO:0003181[atrioventricular valve morphogenesis] GO:0003184[pulmonary valve morphogenesis] GO:0003203[endocardial cushion morphogenesis] GO:0003215[cardiac right ventricle morphogenesis] GO:0003222[ventricular trabecula myocardium morphogenesis] GO:0003274[endocardial cushion fusion] GO:0003289[atrial septum primum morphogenesis] GO:0003407[neural retina development] GO:0005102[signaling receptor binding] GO:0005114[type II transforming growth factor beta receptor binding] GO:0005125[cytokine activity] GO:0005160[transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0006468[protein phosphorylation] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007435[salivary gland morphogenesis] GO:0007507[heart development] GO:0008083[growth factor activity] GO:0008219[cell death] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0008347[glial cell migration] GO:0008584[male gonad development] GO:0009410[response to xenobiotic stimulus] GO:0009611[response to wounding] GO:0009790[embryo development] GO:0009792[embryo development ending in birth or egg hatching] GO:0009888[tissue development] GO:0010002[cardioblast differentiation] GO:0010629[negative regulation of gene expression] GO:0010634[positive regulation of epithelial cell migration] GO:0010693[negative regulation of alkaline phosphatase activity] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0010936[negative regulation of macrophage cytokine production] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016477[cell migration] GO:0016525[negative regulation of angiogenesis] GO:0030097[hemopoiesis] GO:0030199[collagen fibril organization] GO:0030307[positive regulation of cell growth] GO:0030308[negative regulation of cell growth] GO:0030326[embryonic limb morphogenesis] GO:0030424[axon] GO:0030509[BMP signaling pathway] GO:0030593[neutrophil chemotaxis] GO:0031069[hair follicle morphogenesis] GO:0031093[platelet alpha granule lumen] GO:0032147[activation of protein kinase activity] GO:0032570[response to progesterone] GO:0032874[positive regulation of stress-activated MAPK cascade] GO:0032909[regulation of transforming growth factor beta2 production] GO:0033630[positive regulation of cell adhesion mediated by integrin] GO:0034714[type III transforming growth factor beta receptor binding] GO:0035910[ascending aorta morphogenesis] GO:0042060[wound healing] GO:0042127[regulation of cell population proliferation] GO:0042221[response to chemical] GO:0042416[dopamine biosynthetic process] GO:0042476[odontogenesis] GO:0042704[uterine wall breakdown] GO:0042803[protein homodimerization activity] GO:0043025[neuronal cell body] GO:0043525[positive regulation of neuron apoptotic process] GO:0045216[cell-cell junction organization] GO:0045726[positive regulation of integrin biosynthetic process] GO:0045747[positive regulation of Notch signaling pathway] GO:0045787[positive regulation of cell cycle] GO:0045823[positive regulation of heart contraction] GO:0046580[negative regulation of Ras protein signal transduction] GO:0048103[somatic stem cell division] GO:0048566[embryonic digestive tract development] GO:0048666[neuron development] GO:0048699[generation of neurons] GO:0048839[inner ear development] GO:0050680[negative regulation of epithelial cell proliferation] GO:0050714[positive regulation of protein secretion] GO:0050778[positive regulation of immune response] GO:0051781[positive regulation of cell division] GO:0051794[regulation of timing of catagen] GO:0051795[positive regulation of timing of catagen] GO:0051891[positive regulation of cardioblast differentiation] GO:0060038[cardiac muscle cell proliferation] GO:0060065[uterus development] GO:0060317[cardiac epithelial to mesenchymal transition] GO:0060389[pathway-restricted SMAD protein phosphorylation] GO:0060395[SMAD protein signal transduction] GO:0060412[ventricular septum morphogenesis] GO:0060413[atrial septum morphogenesis] GO:0061626[pharyngeal arch artery morphogenesis] GO:0062009[secondary palate development] GO:0062023[collagen-containing extracellular matrix] GO:0097191[extrinsic apoptotic signaling pathway] GO:1902256[regulation of apoptotic process involved in outflow tract morphogenesis] GO:1902895[positive regulation of miRNA transcription] GO:1903701[substantia propria of cornea development] GO:1904888[cranial skeletal system development] GO:1905006[negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation] GO:1905007[positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation]
MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000902[cell morphogenesis] GO:0001501[skeletal system development] GO:0001540[amyloid-beta binding] GO:0001654[eye development] GO:0001666[response to hypoxia] GO:0001822[kidney development] GO:0001837[epithelial to mesenchymal transition] GO:0001843[neural tube closure] GO:0001942[hair follicle development] GO:0003007[heart morphogenesis] GO:0003148[outflow tract septum morphogenesis] GO:0003149[membranous septum morphogenesis] GO:0003179[heart valve morphogenesis] GO:0003181[atrioventricular valve morphogenesis] GO:0003184[pulmonary valve morphogenesis] GO:0003203[endocardial cushion morphogenesis] GO:0003215[cardiac right ventricle morphogenesis] GO:0003222[ventricular trabecula myocardium morphogenesis] GO:0003274[endocardial cushion fusion] GO:0003289[atrial septum primum morphogenesis] GO:0003407[neural retina development] GO:0005102[signaling receptor binding] GO:0005114[type II transforming growth factor beta receptor binding] GO:0005125[cytokine activity] GO:0005160[transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0006468[protein phosphorylation] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007435[salivary gland morphogenesis] GO:0007507[heart development] GO:0008083[growth factor activity] GO:0008219[cell death] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0008347[glial cell migration] GO:0008584[male gonad development] GO:0009410[response to xenobiotic stimulus] GO:0009611[response to wounding] GO:0009790[embryo development] GO:0009792[embryo development ending in birth or egg hatching] GO:0009888[tissue development] GO:0010002[cardioblast differentiation] GO:0010629[negative regulation of gene expression] GO:0010634[positive regulation of epithelial cell migration] GO:0010693[negative regulation of alkaline phosphatase activity] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0010936[negative regulation of macrophage cytokine production] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016477[cell migration] GO:0016525[negative regulation of angiogenesis] GO:0030097[hemopoiesis] GO:0030199[collagen fibril organization] GO:0030307[positive regulation of cell growth] GO:0030308[negative regulation of cell growth] GO:0030326[embryonic limb morphogenesis] GO:0030424[axon] GO:0030509[BMP signaling pathway] GO:0030593[neutrophil chemotaxis] GO:0031069[hair follicle morphogenesis] GO:0031093[platelet alpha granule lumen] GO:0032147[activation of protein kinase activity] GO:0032570[response to progesterone] GO:0032874[positive regulation of stress-activated MAPK cascade] GO:0032909[regulation of transforming growth factor beta2 production] GO:0033630[positive regulation of cell adhesion mediated by integrin] GO:0034714[type III transforming growth factor beta receptor binding] GO:0035910[ascending aorta morphogenesis] GO:0042060[wound healing] GO:0042127[regulation of cell population proliferation] GO:0042221[response to chemical] GO:0042416[dopamine biosynthetic process] GO:0042476[odontogenesis] GO:0042704[uterine wall breakdown] GO:0042803[protein homodimerization activity] GO:0043025[neuronal cell body] GO:0043525[positive regulation of neuron apoptotic process] GO:0045216[cell-cell junction organization] GO:0045726[positive regulation of integrin biosynthetic process] GO:0045747[positive regulation of Notch signaling pathway] GO:0045787[positive regulation of cell cycle] GO:0045823[positive regulation of heart contraction] GO:0046580[negative regulation of Ras protein signal transduction] GO:0048103[somatic stem cell division] GO:0048566[embryonic digestive tract development] GO:0048666[neuron development] GO:0048699[generation of neurons] GO:0048839[inner ear development] GO:0050680[negative regulation of epithelial cell proliferation] GO:0050714[positive regulation of protein secretion] GO:0050778[positive regulation of immune response] GO:0051781[positive regulation of cell division] GO:0051794[regulation of timing of catagen] GO:0051795[positive regulation of timing of catagen] GO:0051891[positive regulation of cardioblast differentiation] GO:0060038[cardiac muscle cell proliferation] GO:0060065[uterus development] GO:0060317[cardiac epithelial to mesenchymal transition] GO:0060389[pathway-restricted SMAD protein phosphorylation] GO:0060395[SMAD protein signal transduction] GO:0060412[ventricular septum morphogenesis] GO:0060413[atrial septum morphogenesis] GO:0061626[pharyngeal arch artery morphogenesis] GO:0062009[secondary palate development] GO:0062023[collagen-containing extracellular matrix] GO:0097191[extrinsic apoptotic signaling pathway] GO:1902256[regulation of apoptotic process involved in outflow tract morphogenesis] GO:1902895[positive regulation of miRNA transcription] GO:1903701[substantia propria of cornea development] GO:1904888[cranial skeletal system development] GO:1905006[negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation] GO:1905007[positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation]