TGFBR2
TGF-beta receptor type-2
Also known as: MFS2, TBR-ii, TBRII, TGFR2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P37173
- Gene
- TGFBR2
- Ensembl
- ENSG00000163513
- Chromosome
- 3
- Canonical length
- 567 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted membrane proteins, Predicted secreted proteins
- Subcellular location
- Plasma membrane
- Secretome location
- Secreted to blood
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]
Canonical amino-acid sequenceUniProt
567 residues, UniProt reviewed canonical sequence.
>P37173|TGFBR2
1 MGRGLLRGLW PLHIVLWTRI ASTIPPHVQK SVNNDMIVTD NNGAVKFPQL CKFCDVRFST
61 CDNQKSCMSN CSITSICEKP QEVCVAVWRK NDENITLETV CHDPKLPYHD FILEDAASPK
121 CIMKEKKKPG ETFFMCSCSS DECNDNIIFS EEYNTSNPDL LLVIFQVTGI SLLPPLGVAI
181 SVIIIFYCYR VNRQQKLSST WETGKTRKLM EFSEHCAIIL EDDRSDISST CANNINHNTE
241 LLPIELDTLV GKGRFAEVYK AKLKQNTSEQ FETVAVKIFP YEEYASWKTE KDIFSDINLK
301 HENILQFLTA EERKTELGKQ YWLITAFHAK GNLQEYLTRH VISWEDLRKL GSSLARGIAH
361 LHSDHTPCGR PKMPIVHRDL KSSNILVKND LTCCLCDFGL SLRLDPTLSV DDLANSGQVG
421 TARYMAPEVL ESRMNLENVE SFKQTDVYSM ALVLWEMTSR CNAVGEVKDY EPPFGSKVRE
481 HPCVESMKDN VLRDRGRPEI PSFWLNHQGI QMVCETLTEC WDHDPEARLT AQCVAERFSE
541 LEHLDRLSGR SCSEEKIPED GSLNTTKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TGFBR2 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 216 nTPM
Expression across tissuesHPA
Tissue
- adipose tissue: 216 nTPM
- lung: 140 nTPM
- breast: 126 nTPM
- blood vessel: 112 nTPM
- spleen: 105 nTPM
- smooth muscle: 100 nTPM
Single-cell type
- lymphatic endothelial cells: 890 nCPM
- vascular endothelial cells: 806 nCPM
- neutrophils: 767 nCPM
- choroid plexus epithelial cells: 582 nCPM
- microglia: 559 nCPM
- pdcs: 463 nCPM
Immune cell
- naive CD4 T-cell: 17 nTPM
- neutrophil: 13 nTPM
- eosinophil: 12 nTPM
- basophil: 9.1 nTPM
- non-classical monocyte: 8 nTPM
- naive CD8 T-cell: 7.4 nTPM
Brain region
- choroid plexus: 57 nTPM
- thalamus: 38 nTPM
- medulla oblongata: 29 nTPM
- spinal cord: 28 nTPM
- white matter: 27 nTPM
- midbrain: 27 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TGFBR2.
Disease | AllUniProt
Conditions TGFBR2 is implicated in, by any mechanism.
- Hereditary non-polyposis colorectal cancer 6 (HNPCC6) MIM:614331
- Esophageal cancer (ESCR) MIM:133239
- Loeys-Dietz syndrome 2 (LDS2) MIM:610168
Disease | GeneticClinVar
130 pathogenic / likely-pathogenic of 1,381 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 0.52
- gnomAD pLI
- 0.13
- gnomAD missense Z
- 2.24
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- activin receptor signaling pathway
- aorta morphogenesis
- aortic valve morphogenesis
- apoptotic process
- artery morphogenesis
- atrioventricular valve morphogenesis
- blood vessel development
- brain development
- branching involved in blood vessel morphogenesis
- bronchus morphogenesis
- cardiac left ventricle morphogenesis
- cellular response to growth factor stimulus
- embryonic cranial skeleton morphogenesis
- embryonic hemopoiesis
- endocardial cushion fusion
- epithelial to mesenchymal transition
- gastrulation
- growth plate cartilage chondrocyte growth
- heart development
- heart looping
- in utero embryonic development
- Langerhans cell differentiation
- lens development in camera-type eye
- lens fiber cell apoptotic process
- lung lobe morphogenesis
- mammary gland morphogenesis
- membranous septum morphogenesis
- miRNA transport
- myeloid dendritic cell differentiation
- nervous system development
- Notch signaling pathway
- outflow tract morphogenesis
- outflow tract septum morphogenesis
- positive regulation of angiogenesis
- positive regulation of CD4-positive, alpha-beta T cell proliferation
- 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 mesenchymal cell proliferation
- positive regulation of NK T cell differentiation
- positive regulation of reactive oxygen species metabolic process
- positive regulation of SMAD protein signal transduction
- positive regulation of T cell tolerance induction
- regulation of cell population proliferation
- regulation of gene expression
- regulation of stem cell differentiation
- regulation of stem cell proliferation
- response to cholesterol
- response to xenobiotic stimulus
- roof of mouth development
- secondary palate development
- SMAD protein signal transduction
- smoothened signaling pathway
- trachea formation
- transforming growth factor beta receptor signaling pathway
- tricuspid valve morphogenesis
- vasculogenesis
- ventricular septum morphogenesis
- inferior endocardial cushion morphogenesis
- positive regulation of B cell tolerance induction
- positive regulation of tolerance induction to self antigen
Molecular functions
- activin binding
- activin receptor activity, type I
- ATP binding
- glycosaminoglycan binding
- kinase activator activity
- metal ion binding
- molecular adaptor activity
- protein serine/threonine kinase activity
- SMAD binding
- transforming growth factor beta binding
- transforming growth factor beta receptor activity
- transforming growth factor beta receptor activity, type II
- transmembrane receptor protein serine/threonine kinase activity
- type I transforming growth factor beta receptor binding
- type III transforming growth factor beta receptor binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ser/Thr protein kinase, TGFB receptor
- Protein kinase domain
- Serine-threonine/tyrosine-protein kinase, catalytic domain
- Serine/threonine-protein kinase, active site
- Protein kinase-like domain superfamily
- Protein kinase, ATP binding site
- Snake toxin-like superfamily
- Protein tyrosine and serine/threonine kinase
- Transforming growth factor beta receptor 2 ectodomain
- Transforming growth factor-beta receptor, type II
- Transforming growth factor beta receptor 2 ectodomain
KeywordsUniProt
- Aortic aneurysm
- Apoptosis
- ATP-binding
- Cell membrane
- Craniosynostosis
- Differentiation
- Disulfide bond
- Glycoprotein
- Growth regulation
- Hereditary nonpolyposis colorectal cancer
- Kinase
- Magnesium
- Manganese
- Membrane
- Metal-binding
- Nucleotide-binding
- Phosphoprotein
- Receptor
- Secreted
- Serine/threonine-protein kinase
- Signal
- Transferase
- Transmembrane
- Transmembrane helix
InteractionsUniProt · HPA
Protein binding partners of TGFBR2 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 TGFBR2 as an antibody target. Whether an autoantibody or antibody against TGFBR2 could matter depends on whether native TGFBR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TGFBR2 is annotated at the cell surface, where native TGFBR2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label TGFBR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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