Homo sapiens Gene: TGFBR2
Summary
InnateDB Gene IDBG-23359.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TGFBR2
Gene Name transforming growth factor, beta receptor II (70/80kDa)
Synonyms AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC; TAAD2; TGFbeta-RII; TGFR-2;
Species Homo sapiens
Ensembl Gene ENSG00000163513
Encoded Proteins
transforming growth factor, beta receptor II (70/80kDa)
transforming growth factor, beta receptor II (70/80kDa)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. 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, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:30606502-30694142
Strand Forward strand
Band p24.1
Transcripts
ENST00000359013 ENSP00000351905
ENST00000295754 ENSP00000295754
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 98 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.
Experimentally validated
Total 98 [view]
Protein-Protein 84 [view]
Protein-DNA 12 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 1 [view]
DNA-RNA 0
Predicted by orthology
Total 12 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0004702 receptor signaling protein serine/threonine kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004872 receptor activity
GO:0005024 transforming growth factor beta-activated receptor activity
GO:0005026 transforming growth factor beta receptor activity, type II
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005539 glycosaminoglycan binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0031435 mitogen-activated protein kinase kinase kinase binding
GO:0034713 type I transforming growth factor beta receptor binding
GO:0034714 type III transforming growth factor beta receptor binding
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0050431 transforming growth factor beta binding
Biological Process
GO:0001568 blood vessel development
GO:0001569 patterning of blood vessels
GO:0001570 vasculogenesis
GO:0001701 in utero embryonic development
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0002088 lens development in camera-type eye
GO:0002651 positive regulation of tolerance induction to self antigen
GO:0002663 positive regulation of B cell tolerance induction
GO:0002666 positive regulation of T cell tolerance induction
GO:0006468 protein phosphorylation
GO:0006898 receptor-mediated endocytosis
GO:0006915 apoptotic process
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007182 common-partner SMAD protein phosphorylation
GO:0007224 smoothened signaling pathway
GO:0007369 gastrulation
GO:0007420 brain development
GO:0007507 heart development
GO:0007566 embryo implantation
GO:0007568 aging
GO:0007584 response to nutrient
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0009612 response to mechanical stimulus
GO:0009749 response to glucose
GO:0009887 organ morphogenesis
GO:0010033 response to organic substance
GO:0010634 positive regulation of epithelial cell migration
GO:0014070 response to organic cyclic compound
GO:0018105 peptidyl-serine phosphorylation
GO:0018107 peptidyl-threonine phosphorylation
GO:0023014 signal transduction by phosphorylation
GO:0030324 lung development
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0031100 organ regeneration
GO:0032147 activation of protein kinase activity
GO:0035162 embryonic hemopoiesis
GO:0042060 wound healing
GO:0042127 regulation of cell proliferation
GO:0042493 response to drug
GO:0043011 myeloid dendritic cell differentiation
GO:0043415 positive regulation of skeletal muscle tissue regeneration
GO:0043627 response to estrogen
GO:0045766 positive regulation of angiogenesis
GO:0048545 response to steroid hormone
GO:0048565 digestive tract development
GO:0048661 positive regulation of smooth muscle cell proliferation
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0051138 positive regulation of NK T cell differentiation
GO:0051216 cartilage development
GO:0060021 palate development
GO:0060044 negative regulation of cardiac muscle cell proliferation
GO:0060389 pathway-restricted SMAD protein phosphorylation
GO:0060425 lung morphogenesis
GO:0060433 bronchus development
GO:0060434 bronchus morphogenesis
GO:0060439 trachea morphogenesis
GO:0060440 trachea formation
GO:0060443 mammary gland morphogenesis
GO:0060463 lung lobe morphogenesis
GO:0070723 response to cholesterol
GO:1990086 lens fiber cell apoptotic process
GO:2000379 positive regulation of reactive oxygen species metabolic process
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005901 caveola
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043235 receptor complex
GO:0045121 membrane raft
GO:0070022 transforming growth factor beta receptor homodimeric complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
TGF_beta_Receptor pathway
REACTOME
SMAD4 MH2 Domain Mutants in Cancer pathway
Loss of Function of SMAD4 in Cancer pathway
Loss of Function of SMAD2/3 in Cancer pathway
Signaling by TGF-beta Receptor Complex in Cancer pathway
TGFBR2 MSI Frameshift Mutants in Cancer pathway
Signal Transduction pathway
SMAD2/3 MH2 Domain Mutants in Cancer pathway
Loss of Function of TGFBR2 in Cancer pathway
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
Downregulation of TGF-beta receptor signaling pathway
TGFBR1 KD Mutants in Cancer pathway
Loss of Function of TGFBR1 in Cancer pathway
TGFBR1 LBD Mutants in Cancer pathway
TGFBR2 Kinase Domain Mutants in Cancer pathway
TGF-beta receptor signaling activates SMADs pathway
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) pathway
Disease pathway
Signaling by TGF-beta Receptor Complex pathway
KEGG
MAPK signaling pathway pathway
Cytokine-cytokine receptor interaction pathway
Endocytosis pathway
TGF-beta signaling pathway pathway
Osteoclast differentiation pathway
Adherens junction pathway
Chagas disease (American trypanosomiasis) pathway
Pathways in cancer pathway
Colorectal cancer pathway
Pancreatic cancer pathway
Chronic myeloid leukemia pathway
INOH
TGF-beta signaling pathway
BMP2 signaling pathway
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
PID BIOCARTA
Tgf beta signaling pathway [Biocarta view]
Ctcf: first multivalent nuclear factor [Biocarta view]
Alk in cardiac myocytes [Biocarta view]
Nfkb activation by nontypeable hemophilus influenzae [Biocarta view]
PID NCI
Integrins in angiogenesis
Glypican 1 network
ALK1 signaling events
TGF-beta receptor signaling
Beta3 integrin cell surface interactions
Cross-References
SwissProt P37173
TrEMBL A3QNQ0
UniProt Splice Variant
Entrez Gene 7048
UniGene Hs.682303
RefSeq NM_003242 NM_001024847
HUGO HGNC:11773
OMIM 190182
CCDS CCDS2648 CCDS33727
HPRD 01823
IMGT
EMBL AK300383 AK314102 AY675319 CH471055 D28131 D50683 DQ377553 DQ377554 DQ377555 DQ377556 DQ377557 DQ377558 DQ377559 GU143402 M85079 U52240 U52241 U52242 U52244 U52245 U52246 U69146 U69147 U69148 U69149 U69150 U69151 U69152
GenPept AAA61164 AAB17553 AAB40916 AAT70724 ABG65632 ACZ58376 BAA05673 BAA09332 BAG36796 BAG62117 EAW64410 EAW64412
RNA Seq Atlas 7048