TGFB2
Transforming growth factor beta-2 proprotein
Also known as: TGFB2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P61812
- Gene
- TGFB2
- Ensembl
- ENSG00000092969
- Chromosome
- 1
- Canonical length
- 414 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted secreted proteins
- Subcellular location
- Vesicles
- Secretome location
- Secreted to blood
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
414 residues, UniProt reviewed canonical sequence.
>P61812|TGFB2
1 MHYCVLSAFL ILHLVTVALS LSTCSTLDMD QFMRKRIEAI RGQILSKLKL TSPPEDYPEP
61 EEVPPEVISI YNSTRDLLQE KASRRAAACE RERSDEEYYA KEVYKIDMPP FFPSENAIPP
121 TFYRPYFRIV RFDVSAMEKN ASNLVKAEFR VFRLQNPKAR VPEQRIELYQ ILKSKDLTSP
181 TQRYIDSKVV KTRAEGEWLS FDVTDAVHEW LHHKDRNLGF KISLHCPCCT FVPSNNYIIP
241 NKSEELEARF AGIDGTSTYT SGDQKTIKST RKKNSGKTPH LLLMLLPSYR LESQQTNRRK
301 KRALDAAYCF RNVQDNCCLR PLYIDFKRDL GWKWIHEPKG YNANFCAGAC PYLWSSDTQH
361 SRVLSLYNTI NPEASASPCC VSQDLEPLTI LYYIGKTPKI EQLSNMIVKS CKCSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TGFB2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- prostate: 16 nTPM
- placenta: 12 nTPM
- seminal vesicle: 11 nTPM
- retina: 9.7 nTPM
- salivary gland: 7.6 nTPM
- lung: 7.4 nTPM
Single-cell type
- salivary duct cells: 514 nCPM
- pituicytes/fscs: 196 nCPM
- salivary basal cells: 173 nCPM
- müller glia: 152 nCPM
- ependymal cells: 146 nCPM
- choroid plexus epithelial cells: 139 nCPM
Immune cell
- naive B-cell: 0.4 nTPM
- memory B-cell: 0.2 nTPM
- myeloid DC: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
Brain region
- medulla oblongata: 37 nTPM
- midbrain: 26 nTPM
- cerebral cortex: 25 nTPM
- basal ganglia: 22 nTPM
- hippocampal formation: 22 nTPM
- hypothalamus: 22 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TGFB2.
Disease | AllUniProt
Conditions TGFB2 is implicated in, by any mechanism.
- Loeys-Dietz syndrome 4 (LDS4) MIM:614816
- Camurati-Engelmann disease 2 (CAEND2) MIM:606631
Disease | GeneticClinVar
111 pathogenic / likely-pathogenic of 847 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Loeys-Dietz syndrome 4
- Familial thoracic aortic aneurysm and aortic dissection
- Familial aortopathy
- TGFB2-related disorder
- Loeys-Dietz syndrome
Disease | ImmuneIEDB
Conditions an epitope on TGFB2 was assayed in.
- glioblastoma T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.15
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.13
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- activation-induced cell death of T cells
- ascending aorta morphogenesis
- atrial septum morphogenesis
- atrial septum primum morphogenesis
- atrioventricular valve morphogenesis
- axon guidance
- blood vessel remodeling
- cardiac epithelial to mesenchymal transition
- cardiac muscle cell proliferation
- cardiac right ventricle morphogenesis
- cardioblast differentiation
- cartilage condensation
- cell migration
- cell morphogenesis
- cell-cell junction organization
- collagen fibril organization
- cranial skeletal system development
- dopamine biosynthetic process
- embryo development ending in birth or egg hatching
- embryonic digestive tract development
- embryonic limb morphogenesis
- endocardial cushion fusion
- endocardial cushion morphogenesis
- epithelial cell differentiation
- epithelial to mesenchymal transition
- extrinsic apoptotic signaling pathway
- extrinsic apoptotic signaling pathway in absence of ligand
- eye development
- face morphogenesis
- generation of neurons
- glial cell migration
- hair follicle development
- hair follicle morphogenesis
- heart development
- heart morphogenesis
- heart valve morphogenesis
- hemopoiesis
- inner ear development
- kidney development
- male gonad development
- membranous septum morphogenesis
- negative regulation of angiogenesis
- negative regulation of cartilage development
- negative regulation of cell growth
- negative regulation of cell population proliferation
- negative regulation of epithelial cell proliferation
- negative regulation of gene expression
- negative regulation of macrophage cytokine production
- negative regulation of Ras protein signal transduction
- neural retina development
- neural tube closure
- neuron development
- neuron fate commitment
- neutrophil chemotaxis
- odontogenesis
- outflow tract septum morphogenesis
- pericyte cell differentiation
- pharyngeal arch artery morphogenesis
- positive regulation of cardioblast differentiation
- positive regulation of cell adhesion mediated by integrin
- positive regulation of cell cycle
- positive regulation of cell division
- positive regulation of cell growth
- positive regulation of cell population proliferation
- positive regulation of epithelial cell migration
- positive regulation of epithelial to mesenchymal transition
- positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation
- positive regulation of extracellular matrix disassembly
- positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
- positive regulation of gene expression
- positive regulation of heart contraction
- positive regulation of immune response
- positive regulation of integrin biosynthetic process
- positive regulation of miRNA transcription
- positive regulation of neuron apoptotic process
- positive regulation of Notch signaling pathway
- positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- positive regulation of protein localization to nucleus
- positive regulation of protein secretion
- positive regulation of SMAD protein signal transduction
- positive regulation of stress-activated MAPK cascade
- positive regulation of timing of catagen
- pulmonary valve morphogenesis
- regulation of actin cytoskeleton organization
- regulation of cell population proliferation
- regulation of transforming growth factor beta2 production
- response to hypoxia
- response to progesterone
- response to wounding
- salivary gland morphogenesis
- secondary palate development
- signaling
- skeletal system development
- somatic stem cell division
- substantia propria of cornea development
- transforming growth factor beta receptor signaling pathway
- uterine wall breakdown
- uterus development
- ventricular septum morphogenesis
- ventricular trabecula myocardium morphogenesis
- wound healing
- negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation
- positive regulation of activation-induced cell death of T cells
- regulation of apoptotic process involved in outflow tract morphogenesis
- regulation of timing of catagen
Molecular functions
- amyloid-beta binding
- cytokine activity
- growth factor activity
- protein homodimerization activity
- signaling receptor binding
- transforming growth factor beta receptor binding
- type II transforming growth factor beta receptor binding
- type III transforming growth factor beta receptor binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- TGF-beta, propeptide
- Transforming growth factor-beta, C-terminal
- Transforming growth factor-beta-like
- Transforming growth factor-beta
- Transforming growth factor beta, conserved site
- Cystine-knot cytokine
- Transforming growth factor beta like domain
- TGF-beta propeptide
- Transforming growth factor beta-2 proprotein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TGFB2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TGFB2 as an antibody target. Whether an autoantibody or antibody against TGFB2 could matter depends on whether native TGFB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TGFB2 is annotated as secreted, so native TGFB2 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label TGFB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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