TGFB2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TGFB2 |
| Official Name | transforming growth factor beta 2 [Source:HGNC Symbol;Acc:HGNC:11768] |
| Ensembl ID | ENSG00000092969 |
| Bio databases IDs | |
| Aliases | transforming growth factor beta 2, prepro-transforming growth factor beta-2 |
| Synonyms | Cetermin, G-TSF, LDS4, Polyergin, Tgfb, TGFBETA2, transforming growth factor beta 2, transforming growth factor, beta 2, transforming growth factor β 2, transforming growth factor, β 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TGFB2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- punt binding
- binding protein
- transforming growth factor-beta receptor binding
- TGF_beta_SF
- protein homodimerization
- Transforming growth factor beta like domain
- protein binding
- receptor binding
- beta-amyloid binding
- identical protein binding
- growth factor
- TGF-beta propeptide
Pathways
Biological processes and signaling networks where the TGFB2 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Airway Inflammation in Asthma
- Antiproliferative Role of TOB in T Cell Signaling
- Apelin Cardiac Fibroblast Signaling Pathway
- Aryl Hydrocarbon Receptor Signaling
- Cyclins and Cell Cycle Regulation
- Ephrin A Signaling
- Factors Promoting Cardiogenesis in Vertebrates
- GADD45 Signaling
- Glucocorticoid Receptor Signaling
- Hepatic Cholestasis
- Hepatic Fibrosis / Hepatic Stellate Cell Activation
- Human Embryonic Stem Cell Pluripotency
- IL-12 Signaling and Production in Macrophages
- IL-17 Signaling
- p38 MAPK Signaling
- Pancreatic Adenocarcinoma Signaling
- Regulation of IL-2 Expression in Activated and Anergic T Lymphocytes
- Role of JAK family kinases in IL-6-type Cytokine Signaling
- Role of Pattern Recognition Receptors in Recognition of Bacteria and Viruses
- Role of Tissue Factor in Cancer
- STAT3 Pathway
- TGF-β Signaling
- VDR/RXR Activation
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic obstructive pulmonary disease
- rheumatoid arthritis
- neoplasia
- Loeys-Dietz syndrome type 4
- teratozoospermia
- inguinal hernia
- epithelial cancer
- spina bifida occulta
- cyanosis
- neutropenia
role in cell
- binding in
- apoptosis
- expression in
- proliferation
- activation in
- phosphorylation in
- quantity
- growth
- binding
- number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cell surface
- intracellular space
- perinuclear region
- membrane surface
- Plasma Membrane
- endosomes
- trans Golgi network
- alpha granules
- secretory granules
- extracellular matrix
- perikaryon
- axons
- plasma
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TGFB2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of angiogenesis
- dopamine biosynthetic process
- positive regulation of integrin biosynthetic process
- inner ear development
- male gonad development
- embryo development ending in birth or egg hatching
- response to progesterone stimulus
- transforming growth factor beta receptor signaling pathway
- heart valve morphogenesis
- glial cell migration
- endocardial cushion morphogenesis
- wound healing
- positive regulation of cell growth
- heart morphogenesis
- skeletal system development
- response to hypoxia
- negative regulation of Ras protein signal transduction
- hair follicle development
- embryonic digestive tract development
- kidney development
- negative regulation of cell growth
- negative regulation of macrophage cytokine production
- neural retina development
- ascending aorta morphogenesis
- positive regulation of protein secretion
- uterine wall breakdown
- atrioventricular valve morphogenesis
- cell morphogenesis
- pulmonary valve morphogenesis
- cardiac epithelial to mesenchymal transition
- ventricular trabecula myocardium morphogenesis
- cardiac muscle cell proliferation
- cell-cell junction organization
- epithelial cell differentiation
- negative regulation of gene expression
- cardiac right ventricle morphogenesis
- positive regulation of cardioblast differentiation
- negative regulation of epithelial cell proliferation
- signaling
- hair follicle morphogenesis
- epithelial to mesenchymal transition
- positive regulation of stress-activated MAPK cascade
- positive regulation of protein kinase B signaling cascade
- hemopoiesis
- negative regulation of cell proliferation
- positive regulation of cell proliferation
- uterus development
- extrinsic apoptotic signaling pathway
- response to wounding
- positive regulation of cell cycle
- endocardial cushion fusion
- odontogenesis
- regulation of transforming growth factor beta2 production
- generation of neurons
- positive regulation of heart contraction
- positive regulation of Notch signaling pathway
- positive regulation of neuron apoptotic process
- salivary gland morphogenesis
- outflow tract septum morphogenesis
- positive regulation of epithelial to mesenchymal transition
- membranous septum morphogenesis
- heart development
- embryonic limb morphogenesis
- positive regulation of cell division
- neural tube closure
- somatic stem cell division
- activation of protein kinase activity
- positive regulation of cell adhesion mediated by integrin
- positive regulation of epithelial cell migration
- positive regulation of SMAD protein import into nucleus
- cell migration
- positive regulation of immune response
- neuron development
- ventricular septum morphogenesis
- regulation of cell proliferation
- atrial septum morphogenesis
- atrial septum primum morphogenesis
- eye development
- regulation of catagen
- positive regulation of catagen
- neutrophil chemotaxis
- collagen fibril organization
- cardioblast differentiation
Cellular Component
Where in the cell the gene product is active
- platelet alpha granule lumen
- extracellular space
- neuronal cell body
- extracellular region
- axon
Molecular Function
What the gene product does at the molecular level
- growth factor activity
- protein homodimerization activity
- protein binding
- transforming growth factor beta receptor binding
- type III transforming growth factor beta receptor binding
- type II transforming growth factor beta receptor binding
- cytokine activity
- receptor binding
- beta-amyloid binding